Progressive Neurological Conditions (Version 22.267)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 4545 Entitiess
Green Green List (high evidence)	A4GALT Congenital Disorders of Glycosylation v2.2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations A4GALT-congenital disorder of glycosylation MONDO:0100587 Tags
Green Green List (high evidence)	AAAS Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Achalasia-addisonianism-alacrimia syndrome MIM#231550 complicated hereditary spastic paraplegia Tags
Green Green List (high evidence)	AAAS Ataxia v2.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Victorian Clinical Genetics Services Disease associations Achalasia-addisonianism-alacrimia syndrome MIM#231550 Tags
Green Green List (high evidence)	AAAS Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations HMSN Glucocorticoid deficiency with achalasia Achalasia-addisonianism-alacrimia syndrome, MIM# 231550 Tags
Green Green List (high evidence)	AARS1 Genetic Epilepsy v2.60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Epileptic encephalopathy, early infantile, 29, MIM# 616339 Tags
Green Green List (high evidence)	AARS1 Hereditary Neuropathy v3.0	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Disease associations Charcot-Marie-Tooth disease, axonal, type 2N, MIM# 613287 Tags
Green Green List (high evidence)	AARS1 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Epileptic encephalopathy, early infantile, 29, MIM#616339 Tags
Green Green List (high evidence)	AARS2 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Leukoencephalopathy, progressive, with ovarian failure, 615889 Tags
Green Green List (high evidence)	AARS2 Rhabdomyolysis and Metabolic Myopathy v2.0	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Expert Review Disease associations Combined oxidative phosphorylation deficiency 8 MIM#614096 Tags
Green Green List (high evidence)	AARS2 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Combined oxidative phosphorylation deficiency 8 MIM#614096 Leukoencephalopathy, progressive, with ovarian failure MIM#615889 MONDO:0013570 Tags
Green Green List (high evidence)	AARS2 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Mitochondrial disease, MONDO:0044970 ovarioleukodystrophy, MONDO:0020506 Tags
Green Green List (high evidence)	AARS2 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Mitochondrial disease, MONDO:0044970 hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia, MONDO:0009096 ovarioleukodystrophy, MONDO:0020506 Tags
Green Green List (high evidence)	AARS2 Early-onset Dementia v2.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations leukoencephalopathy, progressive, with ovarian failure, MONDO:0014387 Tags
Green Green List (high evidence)	ABAT Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations GABA-transaminase deficiency, MIM#613163 Tags
Green Green List (high evidence)	ABAT Neurotransmitter Defects v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations GABA-transaminase deficiency, MIM# 613163 Tags
Green Green List (high evidence)	ABAT Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations mtDNA depletion syndrome (MDS) Tags
Green Green List (high evidence)	ABCA1 Hereditary Neuropathy v3.0	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Tangier Disease (MONDO:0008783 MIM#205400) Tags
Green Green List (high evidence)	ABCA2 Genetic Epilepsy v2.60	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Green Literature Disease associations Intellectual developmental disorder with poor growth and with or without seizures or ataxia, 618808 Tags
Green Green List (high evidence)	ABCA2 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations intellectual developmental disorder with poor growth and with or without seizures or ataxia, MONDO:0032930 Tags
Green Green List (high evidence)	ABCB11 Miscellaneous Metabolic Disorders v2.3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Disease associations Cholestasis, progressive familial intrahepatic 2 MIM#601847 disorder of bile acid metabolism Tags
Green Green List (high evidence)	ABCB4 Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Progressive familial intrahepatic cholestasis type 3, MONDO:0011214 Tags
Green Green List (high evidence)	ABCB7 Ataxia v2.272	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Anaemia, sideroblastic, with ataxia, MIM# 301310 Tags
Green Green List (high evidence)	ABCB7 Metal Metabolism Disorders v1.1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS Genomic Medicine Service Expert Review Green Genomics England PanelApp Disease associations 301310 Anemia, sideroblastic, with ataxia Tags
Green Green List (high evidence)	ABCB7 Mitochondrial disease v2.12	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Anaemia, sideroblastic, with ataxia, MIM# 301310 Tags
Green Green List (high evidence)	ABCC9 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations intellectual disability and myopathy syndrome, MONDO:0859224 Tags
Green Green List (high evidence)	ABCD1 Early-onset Dementia v2.14	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Disease associations X-linked cerebral adrenoleukodystrophy, MONDO:0010247 Tags
Green Green List (high evidence)	ABCD1 Ataxia v2.272	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Royal Melbourne Hospital Expert list Expert list Disease associations Adrenoleukodystrophy MIM# 300100, XLR Tags
Green Green List (high evidence)	ABCD1 Peroxisomal Disorders v1.8	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations adrenoleukodystrophy (MONDO:0018544) Tags
Green Green List (high evidence)	ABCD1 Hereditary Spastic Paraplegia v2.111	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Disease associations Adrenoleukodystrophy, MIM# 300100 Tags
Green Green List (high evidence)	ABCD1 Hereditary Neuropathy v3.0	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Royal Melbourne Hospital Disease associations Adrenomyeloneuropathy, adult (MIM#300100) Adrenomyeloneuropathy, spastic paraparesis, adrenal insufficiency, axonal sensory-motor neuropathy, sphincter disturbance Tags
Green Green List (high evidence)	ABCD1 Leukodystrophy v1.12	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Disease associations Adrenoleukodystrophy, MIM# 300100 Tags
Green Green List (high evidence)	ABCD3_OPDM_GCC STR Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Oculopharyngodistal myopathy 5, MIM# 621446 Tags
Green Green List (high evidence)	ABHD12 Hereditary Neuropathy v3.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674 Tags
Green Green List (high evidence)	ABHD12 Miscellaneous Metabolic Disorders v2.3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Disease associations Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674 disorder of of endocannabinoid metabolism Tags
Green Green List (high evidence)	ABHD12 Ataxia v2.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674 Tags
Green Green List (high evidence)	ABHD16A Hereditary Spastic Paraplegia v2.111	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Spastic paraplegia 86, autosomal recessive, MIM# 619735 Intellectual Disability Corpus callosum abnormalities Tags
Green Green List (high evidence)	ABHD16A Leukodystrophy v1.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Spastic paraplegia 86, autosomal recessive, MIM# 619735 Intellectual Disability Corpus callosum abnormalities Tags
Green Green List (high evidence)	ABHD5 Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Dorfman-Chanarin disease MONDO:0010155 Tags
Green Green List (high evidence)	ABHD5 Miscellaneous Metabolic Disorders v2.3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Disease associations Chanarin-Dorfman syndrome MIM#275630 neutral lipid storage disease with ichthyosis lipid metabolism Tags
Green Green List (high evidence)	ACAD9 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex I deficiency, nuclear type 20 MIM#611126 Tags treatable
Green Green List (high evidence)	ACAD9 Fatty Acid Oxidation Defects v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Mitochondrial complex I deficiency, nuclear type 20, MIM# 611126 Tags treatable
Green Green List (high evidence)	ACAD9 Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Mitochondrial complex I deficiency due to ACAD9 deficiency 611126 Tags treatable
Green Green List (high evidence)	ACADM Fatty Acid Oxidation Defects v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450 Tags treatable
Green Green List (high evidence)	ACADM Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Disease associations Acyl-CoA dehydrogenase, medium chain, deficiency of MIM#201450 Tags treatable
Green Green List (high evidence)	ACADM Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Acyl-CoA dehydrogenase, medium chain, deficiency of 201450 Rhabdomyolysis Tags treatable
Green Green List (high evidence)	ACADSB Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature NHS GMS Disease associations 2-methylbutyrylglycinuria MIM#610006 Tags
Green Green List (high evidence)	ACADSB Fatty Acid Oxidation Defects v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations 2-methylbutyrylglycinuria MIM#610006 Tags
Green Green List (high evidence)	ACADVL Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Disease associations VLCAD deficiency MIM#201475 Tags treatable
Green Green List (high evidence)	ACADVL Fatty Acid Oxidation Defects v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations VLCAD deficiency, MIM# 201475 Tags treatable
Green Green List (high evidence)	ACADVL Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations VLCAD deficiency 201475 Tags treatable
Green Green List (high evidence)	ACAT1 Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Disease associations Alpha-methylacetoacetic aciduria MIM#203750 Tags treatable
Green Green List (high evidence)	ACAT1 Fatty Acid Oxidation Defects v2.0	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Alpha-methylacetoacetic aciduria, MIM#203750 Deficiency of acetyl-CoA acetyltransferase Beta-ketothiolase deficiency MONDO:0008760 Tags treatable
Green Green List (high evidence)	ACBD5 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Progressive leukodystrophy syndromic cleft palate ataxia retinal dystrophy Tags
Green Green List (high evidence)	ACBD5 Peroxisomal Disorders v1.8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Retinal dystrophy with leukodystrophy (MIM#618863) Tags
Green Green List (high evidence)	ACBD5 Ataxia v2.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations Leukodystrophy syndromic cleft palate ataxia retinal dystrophy Tags
Green Green List (high evidence)	ACBD6 Dystonia and Chorea v1.13	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with progressive movement abnormalities, MIM# 620785 Tags
Green Green List (high evidence)	ACBD6 Ataxia v2.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with progressive movement abnormalities, MIM# 620785 Tags
Green Green List (high evidence)	ACBD6 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder with progressive movement abnormalities, MONDO:0968976 Tags
Green Green List (high evidence)	ACER3 Leukodystrophy v1.12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Leukodystrophy, progressive, early childhood-onset, OMIM:617762 Tags
Green Green List (high evidence)	ACO2 Mitochondrial disease v2.12	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Infantile cerebellar-retinal degeneration, MIM#614559 Optic atrophy 9, MIM# 616289 Tags
Green Green List (high evidence)	ACO2 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital GeneReviews Disease associations Infantile cerebellar-retinal degeneration, MIM#614559 Tags
Green Green List (high evidence)	ACO2 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Mitochondrial disease, MONDO:0044970 Tags
Green Green List (high evidence)	ACOX1 Hereditary Neuropathy v3.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Mitchell syndrome, MIM# 618960 Tags
Green Green List (high evidence)	ACOX1 Peroxisomal Disorders v1.8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470 Tags
Green Green List (high evidence)	ACOX1 Leukodystrophy v1.12	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470 Mitchell syndrome, MIM# 618960 Tags
Green Green List (high evidence)	ACOX1 Genetic Epilepsy v2.60	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470 Mitchell syndrome, MIM# 618960 Tags
Green Green List (high evidence)	ACOX2 Peroxisomal Disorders v1.8	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Bile acid synthesis defect, congenital, 6, 617308 Tags
Green Green List (high evidence)	ACP5 Brain Calcification v3.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Spondyloenchondrodysplasia with immune dysregulation, MIM# 607944 Tags
Green Green List (high evidence)	ACP5 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Spondyloenchondrodysplasia with immune dysregulation, MONDO:0011939 Tags
Green Green List (high evidence)	ACTA1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Disease associations Myopathy, scapulohumeroperoneal 616852 Tags
Green Green List (high evidence)	ACTA2 Leukodystrophy v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations multisystemic smooth muscle dysfunction syndrome MONDO:0013452 Tags
Green Green List (high evidence)	ACTA2 Cerebral vascular malformations v2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Genomics England PanelApp Expert Review Green Disease associations Multisystemic smooth muscle dysfunction syndrome,613834 Aortic aneurysm familial thoracic 6,611788 Moyamoya Disease Moyamoya disease 5 Moyamoya disease 5,614042 Tags
Green Green List (high evidence)	ACTB Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Literature Disease associations Baraitser-Winter syndrome 1 243310 Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475 Tags
Green Green List (high evidence)	ACTB Dystonia and Chorea v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Disease associations Baraitser-Winter syndrome 1, 243310 Dystonia, juvenile-onset, 607371 Tags
Green Green List (high evidence)	ACTG1 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert Review Disease associations Baraitser-Winter syndrome 2, MIM# 614583 Tags
Green Green List (high evidence)	ACTL6B Genetic Epilepsy v2.60	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Epileptic encephalopathy, early infantile, 76, MIM# 618468 Intellectual developmental disorder with severe speech and ambulation defects, MIM# 618470 Tags
Green Green List (high evidence)	ACTL6B Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations developmental and epileptic encephalopathy, 76, MONDO:0032768 Tags
Green Green List (high evidence)	ACTN2 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Amber Disease associations Myopathy, distal, 6, adult onset MIM#618655 ACTN2-related cardiac and skeletal myopathy, MONDO:0700349 Tags
Green Green List (high evidence)	ACVR1 Brain Calcification v3.0	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Fibrodysplasia ossificans progressiva, MIM# 135100 Tags
Green Green List (high evidence)	ACVRL1 Cerebral vascular malformations v2.0	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Expert Review Green Disease associations Telangiectasia, hereditary hemorrhagic, type 2 600376 Tags
Green Green List (high evidence)	ACY1 Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Aminoacylase 1 deficiency MIM#609924 disorder of amino acid metabolism Tags
Green Green List (high evidence)	ACY1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Aminoacylase 1 deficiency, MIM# 609924 Tags
Green Green List (high evidence)	ADA Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Adenosine deaminase deficiency, partial MIM#102700 Severe combined immunodeficiency due to ADA deficiency MIM#102700 disorder of purine metabolism Tags
Green Green List (high evidence)	ADAM22 Genetic Epilepsy v2.60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Developmental and epileptic encephalopathy 61 (MIM#617933) Tags
Green Green List (high evidence)	ADAR Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations dystonia Aicardi-Goutieres syndrome 6, 615010 Tags
Green Green List (high evidence)	ADAR Brain Calcification v3.0	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Aicardi-Goutieres syndrome 6, MIM#615010 Tags
Green Green List (high evidence)	ADAR Genetic Epilepsy v2.60	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Aicardi-Goutieres syndrome 6, MIM# 615010 Dyschromatosis symmetrica hereditaria, MIM# 127400 Tags
Green Green List (high evidence)	ADAR Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Aicardi-Goutieres syndrome 6, MIM# 615010 Tags
Green Green List (high evidence)	ADAR Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Aicardi-Goutieres syndrome 6, 615010 autosomal recessive Tags
Green Green List (high evidence)	ADAR Early-onset Parkinson disease v3.33	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Aicardi-Goutieres syndrome 6 neuroinflammatory disorder with cerebral calcification progressive loss of cognition spasticity dystonia parkinsonism OMIM 615010 Tags
Green Green List (high evidence)	ADARB1 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862 Intellectual disability microcephaly seizures Tags
Green Green List (high evidence)	ADCY5 Brain Channelopathies v2.0	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Dyskinesia, familial, with facial myokymia, MIM# 606703 MONDO:0011707 Hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2), MIM#619647 Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651 Tags
Green Green List (high evidence)	ADCY5 Dystonia and Chorea v1.13	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Disease associations Dyskinesia, familial, with facial myokymia, MIM# 606703 MONDO:0011707 Hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2), MIM#619647 Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651 Tags
Green Green List (high evidence)	ADGRG1 Ataxia v2.272	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Polymicrogyria, Frontoparietal, 606854 Polymicrogyria, perisylvian type, 615752 Tags
Green Green List (high evidence)	ADGRG1 Genetic Epilepsy v2.60	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Polymicrogyria, bilateral frontoparietal, MIM#606854 Tags 5'UTR
Green Green List (high evidence)	ADGRV1 Genetic Epilepsy v2.60	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Expert Review Disease associations Epilepsy, MONDO:0005027, ADGRV1-related Tags
Green Green List (high evidence)	ADNP Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Literature Disease associations Helsmoortel-van der Aa syndrome MIM#615873 Tags
Green Green List (high evidence)	ADPRS Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Disease associations Neurodegeneration, childhood-onset, stress-induced with variable ataxia and seizures, 618170 Tags new gene name
Green Green List (high evidence)	ADPRS Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (MIM#618170) Tags new gene name
Green Green List (high evidence)	ADPRS Hereditary Neuropathy v3.0	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (MIM#618170) Tags new gene name
Green Green List (high evidence)	ADSL Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Adenylosuccinase deficiency MIM#103050 Tags
Green Green List (high evidence)	ADSL Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Adenylosuccinase deficiency MIM#103050 disorder of purine metabolism Tags
Green Green List (high evidence)	ADSS1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations adenylosuccinate synthetase-like 1-related distal myopathy MONDO:0018834 Tags
Green Green List (high evidence)	AFF3 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations KINSSHIP syndrome, MIM# 619297 Intellectual disability seizures hypertrichosis Tags
Green Green List (high evidence)	AFG2A Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Epilepsy, hearing loss, and mental retardation syndrome, MIM# 616577 Tags new gene name
Green Green List (high evidence)	AFG2A Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Epilepsy, hearing loss, and mental retardation syndrome MIM#616577 Tags new gene name
Green Green List (high evidence)	AFG2A Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, MONDO:0014698 Tags
Green Green List (high evidence)	AFG2B Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder with hearing loss and spasticity, MONDO:0859206 Tags
Green Green List (high evidence)	AFG2B Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616 Tags
Green Green List (high evidence)	AFG2B Dystonia and Chorea v1.13	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616 Tags
Green Green List (high evidence)	AFG3L2 Mitochondrial disease v2.12	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Disease associations Spastic ataxia 5, autosomal recessive (MIM#614487) Spinocerebellar ataxia 28 (MIM#610246) Optic atrophy 12, MIM# 618977 Tags
Green Green List (high evidence)	AFG3L2 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Spastic ataxia 5, autosomal recessive, MIM# 614487 Spinocerebellar ataxia 28, MIM# 610246 Tags
Green Green List (high evidence)	AFG3L2 Hereditary Neuropathy v3.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Spastic ataxia 5, autosomal recessive, MIM# 614487, MONDO:0013776 Early-onset spastic paraplegia, later myoclonic epilepsy, sensory-motor axonal neuropathy, ataxia, dystonia Tags
Green Green List (high evidence)	AFG3L2 Ataxia v2.272	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations Spastic ataxia 5, autosomal recessive MIM#614487 Spinocerebellar ataxia 28 MIM#610246 Tags
Green Green List (high evidence)	AGA Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Aspartylglucosaminuria, MIM# 208400 MONDO:0008830 Tags
Green Green List (high evidence)	AGA Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Aspartylglucosaminuria, MIM# 208400 Tags
Green Green List (high evidence)	AGK Rhabdomyolysis and Metabolic Myopathy v2.0	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Disease associations Sengers Syndrome (MIM#212350 MONDO:0008922) Tags
Green Green List (high evidence)	AGK Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Sengers syndrome, MIM#212350 Cataract 38 MIM#614691 Tags
Green Green List (high evidence)	AGL Glycogen Storage Diseases v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Glycogen storage disease IIIa and IIIb, MIM# 232400 Tags
Green Green List (high evidence)	AGL Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Disease associations Glycogen storage disease IIIa 232400 Glycogen storage disease IIIb 232400 Tags
Green Green List (high evidence)	AGMO Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, AGMO-related Tags
Green Green List (high evidence)	AGO1 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures, MIM# 620292 Tags
Green Green List (high evidence)	AGPS Peroxisomal Disorders v1.8	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	AGTPBP1 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Neurodegeneration, childhood-onset, with cerebellar atrophy, MONDO:0032650 Tags
Green Green List (high evidence)	AGTPBP1 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Neurodegeneration, childhood-onset, with cerebellar atrophy, MONDO:0032650 Tags
Green Green List (high evidence)	AGXT Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Hyperoxaluria, primary, type 1, MIM#259900 Tags clinical trial treatable
Green Green List (high evidence)	AGXT Peroxisomal Disorders v1.8	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	AHCY Miscellaneous Metabolic Disorders v2.3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Expert list Victorian Clinical Genetics Services Expert Review Green Disease associations Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MIM#613752 disorder of methionine metabolism Tags treatable
Green Green List (high evidence)	AHCY Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Expert list Expert list Victorian Clinical Genetics Services Disease associations Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MIM#613752 Tags
Green Green List (high evidence)	AHI1 Ataxia v2.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Joubert syndrome 3 Tags
Green Green List (high evidence)	AIFM1 Rhabdomyolysis and Metabolic Myopathy v2.0	4 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Other Expert Review Green Expert Review Disease associations Combined oxidative phosphorylation deficiency 6 (COXPD6) (MIM#300816) Encephalamyopathy, Mitochondrial, X-Linked Tags
Green Green List (high evidence)	AIFM1 Leukodystrophy v1.12	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Disease associations Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, MIM# 300232 Tags
Green Green List (high evidence)	AIFM1 Mitochondrial disease v2.12	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Combined oxidative phosphorylation deficiency 6, 300816 Cowchock syndrome, 310490 Deafness, X-linked 5, 300614 Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232 Tags
Green Green List (high evidence)	AIFM1 Hereditary Neuropathy v3.0	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Disease associations Combined oxidative phosphorylation deficiency 6 Cowchock syndrome HMSN Tags
Green Green List (high evidence)	AIFM1 Hereditary Spastic Paraplegia v2.111	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations X-linked hereditary sensory and autonomic neuropathy with hearing loss, MONDO:0010378 spondyloepimetaphyseal dysplasia, Bieganski type, MONDO:0010275 Tags
Green Green List (high evidence)	AIFM1 Ataxia v2.272	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations Charcot-Marie-Tooth disease X-linked recessive 4, MONDO:0010689 X-linked hereditary sensory and autonomic neuropathy with hearing loss, MONDO:0010378 severe X-linked mitochondrial encephalomyopathy, MONDO:0010437 spondyloepimetaphyseal dysplasia, Bieganski type, MONDO:0010275 Tags
Green Green List (high evidence)	AIMP1 Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Leukodystrophy, hypomyelinating, 3 260600 Tags
Green Green List (high evidence)	AIMP1 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Leukodystrophy, hypomyelinating, 3, MIM#260600 Tags
Green Green List (high evidence)	AIMP1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Leukodystrophy, hypomyelinating, 3, MIM# 260600 Tags
Green Green List (high evidence)	AIRIM Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, C1orf109-related Tags
Green Green List (high evidence)	AJAP1 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder, MONDO:0700092, AJAP1-related Tags
Green Green List (high evidence)	AKR1D1 Miscellaneous Metabolic Disorders v2.3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Disease associations Bile acid synthesis defect, congenital, 2 MIM#235555 disorder of bile acid metabolism Tags treatable
Green Green List (high evidence)	AKT1 Genetic Epilepsy v2.60	3 reviews 1 green	Other	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Proteus syndrome, somatic, MIM# 176920 Tags somatic
Green Green List (high evidence)	AKT3 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 MIM#615937 Tags
Green Green List (high evidence)	ALAS2 Metal Metabolism Disorders v1.1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS Genomic Medicine Service Expert Review Green Genomics England PanelApp Disease associations 300752 Protoporphyria, erythropoietic, X-linked Sideroblastic anaemia - increased serum ferritin 300751 Anemia, sideroblastic, 1 Tags
Green Green List (high evidence)	ALDH18A1 Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Cutis laxa, autosomal recessive, type IIIA MIM#219150 Spastic paraplegia 9A, autosomal dominant MIM#601162 Spastic paraplegia 9B, autosomal recessive MIM#616586 Cutis laxa, autosomal dominant 3 MIM#616603 disorders of ornithine or proline metabolism Tags
Green Green List (high evidence)	ALDH18A1 Hereditary Neuropathy v3.0	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Royal Melbourne Hospital Disease associations Spastic paraplegia 9A, autosomal dominant MIM#601162 Tags
Green Green List (high evidence)	ALDH18A1 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Spastic paraplegia 9B, autosomal recessive, MIM# 616586 Spastic paraplegia 9A, autosomal dominant, MIM# 601162 Tags
Green Green List (high evidence)	ALDH3A2 Miscellaneous Metabolic Disorders v2.3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Disease associations Sjogren-Larsson syndrome MIM#270200 disorder of lipid metabolism Tags
Green Green List (high evidence)	ALDH3A2 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Sjögren-Larsson syndrome Tags
Green Green List (high evidence)	ALDH3A2 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Disease associations Sjogren-Larsson syndrome, MIM# 270200 Tags
Green Green List (high evidence)	ALDH3A2 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Sjogren-Larsson syndrome, MIM# 270200 Tags
Green Green List (high evidence)	ALDH4A1 Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Hyperprolinemia, type II MIM#239510 disorders of ornithine or proline metabolism Tags
Green Green List (high evidence)	ALDH4A1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Hyperprolinaemia, type II, MIM#239510 Tags
Green Green List (high evidence)	ALDH5A1 Neurotransmitter Defects v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Succinic semialdehyde dehydrogenase deficiency, MIM# 271980 Tags
Green Green List (high evidence)	ALDH5A1 Miscellaneous Metabolic Disorders v2.3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Disease associations Succinic semialdehyde dehydrogenase deficiency MIM#271980 disorder of neurotransmitter metabolism Tags
Green Green List (high evidence)	ALDH5A1 Ataxia v2.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Royal Melbourne Hospital Disease associations Succinic semialdehyde dehydrogenase deficiency, MIM# 271980 Tags
Green Green List (high evidence)	ALDH5A1 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Succinic semialdehyde dehydrogenase deficiency, MIM# 271980 Tags
Green Green List (high evidence)	ALDH6A1 Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Methylmalonate semialdehyde dehydrogenase deficiency MIM#614105 disorder of valine and pyrimidine metabolism Tags
Green Green List (high evidence)	ALDH7A1 Neurotransmitter Defects v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Epilepsy, pyridoxine-dependent, MIM# 266100 Tags treatable
Green Green List (high evidence)	ALDH7A1 Miscellaneous Metabolic Disorders v2.3	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Disease associations Epilepsy, pyridoxine-dependent MM#266100 disorder of lysine metabolism Tags treatable
Green Green List (high evidence)	ALDH7A1 Genetic Epilepsy v2.60	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Epilepsy, pyridoxine-dependent, MIM# 266100 Tags treatable
Green Green List (high evidence)	ALDOA Glycogen Storage Diseases v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Glycogen storage disease XII , MIM#611881 Tags
Green Green List (high evidence)	ALDOA Rhabdomyolysis and Metabolic Myopathy v2.0	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Glycogen storage disease XII 611881 Tags
Green Green List (high evidence)	ALDOB Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Fructose intolerance, hereditary, MIM# 229600 Tags
Green Green List (high evidence)	ALG1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Congenital disorder of glycosylation, type Ik, MIM# 608540 Tags
Green Green List (high evidence)	ALG1 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type Ik 608540 Tags
Green Green List (high evidence)	ALG11 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Congenital disorder of glycosylation, type Ip, MIM# 613661 Tags
Green Green List (high evidence)	ALG11 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type Ip, MIM# 613661 Tags
Green Green List (high evidence)	ALG12 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type Ig 607143 Tags
Green Green List (high evidence)	ALG13 Genetic Epilepsy v2.60	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Congenital disorder of glycosylation, type Is (MIM# 300884) Tags
Green Green List (high evidence)	ALG13 Congenital Disorders of Glycosylation v2.2	3 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type Is (MIM# 300884) Tags
Green Green List (high evidence)	ALG14 Congenital Disorders of Glycosylation v2.2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Myasthenic syndrome, congenital, 15, without tubular aggregates 616227 Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031 Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036 Disorder of N-glycosylation Tags
Green Green List (high evidence)	ALG14 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031 Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036 Tags
Green Green List (high evidence)	ALG2 Congenital Disorders of Glycosylation v2.2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type Ii (MIM# 607906) Tags
Green Green List (high evidence)	ALG2 Genetic Epilepsy v2.60	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Disease associations Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228 Congenital disorder of glycosylation, type Ii, MIM# 607906 Tags
Green Green List (high evidence)	ALG3 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type Id, MIM# 601110 Tags
Green Green List (high evidence)	ALG3 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Congenital disorder of glycosylation, type Id, MIM# 601110 Tags
Green Green List (high evidence)	ALG6 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Congenital disorder of glycosylation, type Ic (MIM#603147) Tags
Green Green List (high evidence)	ALG6 Congenital Disorders of Glycosylation v2.2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type Ic (MIM#603147) Tags
Green Green List (high evidence)	ALG6 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations ALG6-congenital disorder of glycosylation 1C, MONDO:0011291 Tags
Green Green List (high evidence)	ALG8 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type Ih, MIM# 608104 Tags
Green Green List (high evidence)	ALG8 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Congenital disorder of glycosylation, type Ih, MIM# 608104 Tags
Green Green List (high evidence)	ALG9 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Congenital disorder of glycosylation, type Il, MIM#608776 Tags
Green Green List (high evidence)	ALG9 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type Il, MIM#608776 Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210 Tags
Green Green List (high evidence)	ALKBH8 Genetic Epilepsy v2.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Intellectual developmental disorder, autosomal recessive 71, MIM# 618504 Tags
Green Green List (high evidence)	ALPK1 Brain Calcification v3.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations ROSAH syndrome, MIM# 614979 Tags
Green Green List (high evidence)	ALPL Miscellaneous Metabolic Disorders v2.3	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Hypophosphatasia disorder of bone metabolism Tags
Green Green List (high evidence)	ALPL Genetic Epilepsy v2.60	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Hypophosphatasia, adult 146300 (AD, AR) Hypophosphatasia, childhood 241510 AR Hypophosphatasia, infantile 241500 AR Odontohypophosphatasia 146300 AD, AR Tags
Green Green List (high evidence)	ALS2 Motor Neurone Disease v2.29	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Disease associations ALS2-related motor neuron disease, MONDO:0100227 Tags
Green Green List (high evidence)	ALS2 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Disease associations ALS2-related motor neuron disease, MONDO:0100227 Tags
Green Green List (high evidence)	AMACR Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Literature Disease associations Alpha-methylacyl-CoA racemase deficiency, MIM# 614307 Tags
Green Green List (high evidence)	AMACR Peroxisomal Disorders v1.8	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	AMACR Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Alpha-methylacyl-CoA racemase deficiency (MIM#614307) Retinopathy, myelopathy, axonal or SNCV neuropathy, elevated phytanic and pristanic acids Tags
Green Green List (high evidence)	AMACR Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Bile acid synthesis defect, congenital, 4, MIM# 214950 Alpha-methylacyl-CoA racemase deficiency, MIM# 614307 Tags
Green Green List (high evidence)	AMFR Hereditary Spastic Paraplegia v2.111	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Spastic paraplegia 89, autosomal recessive, MIM# 620379 Tags
Green Green List (high evidence)	AMPD2 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Pontocerebellar hypoplasia, type 9, MIM#615809 Tags
Green Green List (high evidence)	AMT Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Glycine encephalopathy MIM#605899 disorder of glycine metabolism Tags
Green Green List (high evidence)	AMT Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Glycine encephalopathy MIM#605899 disorder of glycine metabolism Tags
Green Green List (high evidence)	ANGPTL6 Cerebral vascular malformations v2.0	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Cerebral aneurysm Tags
Green Green List (high evidence)	ANK2 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Complex neurodevelopmental disorder, MONDO:0100038, ANK2-related Tags
Green Green List (high evidence)	ANK3 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092 Tags
Green Green List (high evidence)	ANKRD11 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Disease associations KBG syndrome, MIM#148050 Tags
Green Green List (high evidence)	ANKRD17 Genetic Epilepsy v2.60	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Chopra-Amiel-Gordan syndrome, MIM# 619504 Intellectual disability dysmorphic features Tags
Green Green List (high evidence)	ANO10 Ataxia v2.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations Spinocerebellar ataxia, autosomal recessive 10 MIM#613728 Tags
Green Green List (high evidence)	ANO10 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations autosomal recessive spinocerebellar ataxia 10, MONDO:0013392 Tags
Green Green List (high evidence)	ANO3 Dystonia and Chorea v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Royal Melbourne Hospital Expert Review Green Disease associations Dystonia 24, 615034 familial form of cranio-cervical dystonia Tags
Green Green List (high evidence)	ANO4 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder MONDO:0700092, ANO4-related Tags
Green Green List (high evidence)	ANO5 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Muscular dystrophy, limb-girdle, type 2L, 611307 Miyoshi muscular dystrophy 3, 613319 Tags
Green Green List (high evidence)	ANO5 Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Miyoshi muscular dystrophy 3 613319 Muscular dystrophy, limb-girdle, type 2L 611307 Tags
Green Green List (high evidence)	ANXA11 Motor Neurone Disease v2.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Amytrophic lateral sclerosis 23 MIM#617839 Tags
Green Green List (high evidence)	ANXA11 Early-onset Dementia v2.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations amyotrophic lateral sclerosis type 23 MONDO:0027694 Tags
Green Green List (high evidence)	AOPEP Early-onset Parkinson disease v3.33	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Dystonia 31, MIM# 619565 Childhood/Adolescence onset generalised dystonia Dystonia parkinsonism Zech-Boesch Syndrome Tags new gene name
Green Green List (high evidence)	AOPEP Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Expert Review Green Literature Disease associations Dystonia 31, MIM# 619565 Tags new gene name
Green Green List (high evidence)	AP1G1 Genetic Epilepsy v2.60	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Usmani-Riazuddin syndrome, autosomal dominant, MIM# 619467 Usmani-Riazuddin syndrome, autosomal recessive, MIM# 619548 Neurodevelopmental disorder (NDD) Intellectual Disability Epilepsy Tags
Green Green List (high evidence)	AP1S1 Metal Metabolism Disorders v1.1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations MEDNIK syndrome MONDO:0012251 Disorders of copper metabolism Tags
Green Green List (high evidence)	AP1S1 Hereditary Neuropathy v3.0	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations MEDNIK Syndrome (MONDO:0012251, MIM#609313) Congenital-onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma Tags
Green Green List (high evidence)	AP1S2 Brain Calcification v3.0	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Disease associations Pettigrew syndrome, MIM# 304340 Tags
Green Green List (high evidence)	AP1S2 Ataxia v2.272	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations Pettigrew syndrome, MIM# 304340 Tags
Green Green List (high evidence)	AP2M1 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Intellectual developmental disorder 60 with seizures, MIM# 618587 Tags
Green Green List (high evidence)	AP2S1 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, AP2S1-related Tags
Green Green List (high evidence)	AP3B2 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Early-onset epileptic encephalopathy with optic atrophy, MIM#617276 Tags
Green Green List (high evidence)	AP4B1 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Spastic paraplegia 47, autosomal recessive MIM#614066 Tags
Green Green List (high evidence)	AP4B1 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Spastic paraplegia 47, autosomal recessive, 614066 Tags
Green Green List (high evidence)	AP4B1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Spastic paraplegia 47, autosomal recessive, MIM# 614066 Tags
Green Green List (high evidence)	AP4E1 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Spastic paraplegia 51, autosomal recessive, 613744 Tags
Green Green List (high evidence)	AP4M1 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Spastic paraplegia 50, autosomal recessive, 612936 Tags
Green Green List (high evidence)	AP4S1 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations developmental delay Spastic paraplegia 52, autosomal recessive, 614067 seizures Tags
Green Green List (high evidence)	AP5B1 Lysosomal Storage Disorder v2.2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Hereditary macular dystrophy MONDO:0020242, AP-5 complex-related Tags
Green Green List (high evidence)	AP5M1 Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Hereditary macular dystrophy MONDO:0020242, AP-5 complex-related Tags
Green Green List (high evidence)	AP5Z1 Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations Disorders of autophagy hereditary spastic paraplegia MONDO:0019064 Tags
Green Green List (high evidence)	AP5Z1 Hereditary Spastic Paraplegia v2.111	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Spastic paraplegia 48, autosomal recessive, MIM# 613647 Tags
Green Green List (high evidence)	AP5Z1 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations AP5Z1-related neuropathy hereditary spastic paraplegia 48, MONDO:0013342 Tags
Green Green List (high evidence)	APC2 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Cortical dysplasia, complex, with other brain malformations 10, MIM#618677 Tags
Green Green List (high evidence)	APOA1 Hereditary Neuropathy v3.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Disease associations Amyloidosis, 3 or more types 105200 Renal failure, Axonal sensory-motor neuropathy, amyloid nephropathy Tags
Green Green List (high evidence)	APP Early-onset Dementia v2.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Alzheimer disease MONDO:0007088 Tags
Green Green List (high evidence)	APP Leukodystrophy v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Other Expert Review Green Expert Review Green Other Disease associations early-onset autosomal dominant Alzheimer disease MONDO:0015140 Tags
Green Green List (high evidence)	APTX Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920 Tags
Green Green List (high evidence)	APTX Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Ataxia-oculomotor apraxia type 1 Dystonia Tags
Green Green List (high evidence)	APTX Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia (MIM#208920) Tags
Green Green List (high evidence)	APTX Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia MIM#208920 Tags
Green Green List (high evidence)	AR_SBMA_CAG STR Motor Neurone Disease v2.29	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Disease associations Spinal and bulbar muscular atrophy of Kennedy MIM#313200 Tags STR
Green Green List (high evidence)	AR_SBMA_CAG STR Hereditary Neuropathy v3.0	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Expert list Disease associations Spinal and bulbar muscular atrophy of Kennedy MIM#313200 Tags adult-onset
Green Green List (high evidence)	ARF1 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Periventricular nodular heterotopia 8, MIM# 618185 Tags
Green Green List (high evidence)	ARF3 Genetic Epilepsy v2.60	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Literature Disease associations Neurodevelopmental disorder (MONDO:0700092), ARF3-related Global developmental delay Intellectual disability Seizures Morphological abnormality of the central nervous system Tags
Green Green List (high evidence)	ARFGEF1 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Disease associations Developmental delay, impaired speech, and behavioral abnormalities, MIM# 619964 Tags
Green Green List (high evidence)	ARFGEF2 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Periventricular heterotopia with microcephaly (MIM#608097) Tags
Green Green List (high evidence)	ARG1 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Disease associations Argininemia, 207800 Tags treatable
Green Green List (high evidence)	ARG1 Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Argininemia MIM#207800 Urea cycle disorders and inherited hyperammonaemias disorder of arginine metabolism Tags treatable
Green Green List (high evidence)	ARG1 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Progressive spastic tetraplegia Argininaemia, 207800 Tags treatable
Green Green List (high evidence)	ARHGAP19 Hereditary Neuropathy v3.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Literature Literature Disease associations Charcot-Marie-Tooth disease, axonal, type 2KK, MIM# 621466 Tags
Green Green List (high evidence)	ARHGEF15 Early-onset Dementia v2.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations brain small vessel disease 5 with osteoporosis MONDO:0979880 Tags
Green Green List (high evidence)	ARHGEF9 Genetic Epilepsy v2.60	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Epileptic encephalopathy, early infantile, 8, MIM# 300607 Tags
Green Green List (high evidence)	ARID1A Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Literature Disease associations Coffin-Siris syndrome 2 #614607 Tags
Green Green List (high evidence)	ARID1B Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Coffin-Siris syndrome 1 MIM#135900 Tags
Green Green List (high evidence)	ARL13B Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Joubert syndrome 8, MIM# 612291 Tags
Green Green List (high evidence)	ARL6IP1 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Spastic paraplegia 61, autosomal recessive, MIM#615685 Tags
Green Green List (high evidence)	ARL6IP1 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations HSAN/SFN Childhood-onset spastic paraplegia with mutilating, sensory>motor axonal neuropathy Tags
Green Green List (high evidence)	ARMC9 Ataxia v2.272	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Disease associations Joubert syndrome 30, MIM#617622 Tags
Green Green List (high evidence)	ARSA Genetic Epilepsy v2.60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Disease associations Metachromatic leukodystrophy - # 250100 Arylsulfatase A deficiency Tags
Green Green List (high evidence)	ARSA Early-onset Dementia v2.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Metachromatic leukodystrophy, MIM# 250100, adult-onset Tags
Green Green List (high evidence)	ARSA Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Metachromatic leukodystrophy, MIM#250100 Tags clinical trial treatable
Green Green List (high evidence)	ARSA Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Metachromatic leukodystrophy, MIM# 250100 Severe late infantile form with mental retardation and severe course. Regression before 30 months adult-onset, psychiatric symptoms, leukodystrophy on MRI, progressive neuropathy with SNCV, optic atrophy Tags
Green Green List (high evidence)	ARSA Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Metachromatic Leukodystrophy, 250100 Metachromatic leukodystrophy (#250100) Tags clinical trial treatable
Green Green List (high evidence)	ARSA Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Metachromatic leukodystrophy, MIM# 250100 MONDO:0009591 Tags clinical trial treatable
Green Green List (high evidence)	ARSA Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Metachromatic leukodystrophy, MIM# 250100 Tags clinical trial treatable
Green Green List (high evidence)	ARSB Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Mucopolysaccharidosis type VI (Maroteaux-Lamy), MIM# 253200 MONDO:0009661 Tags clinical trial treatable
Green Green List (high evidence)	ARSK Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Mucopolysaccharidosis MONDO:0019249, ARSK-related Tags
Green Green List (high evidence)	ARSL Peroxisomal Disorders v1.8	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Disease associations Chondrodysplasia punctata, X-linked recessive (MIM#302950) Tags new gene name
Green Green List (high evidence)	ARV1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Developmental and epileptic encephalopathy 38, MIM# 617020 Tags
Green Green List (high evidence)	ARV1 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations developmental and epileptic encephalopathy, 38, MONDO:0014868 Tags
Green Green List (high evidence)	ARX Dystonia and Chorea v1.13	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Royal Melbourne Hospital Disease associations Partington syndrome, MIM# 309510 Dystonia Tags STR
Green Green List (high evidence)	ARX Genetic Epilepsy v2.60	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Epileptic encephalopathy, early infantile, 1 MIM#308350 Hydranencephaly with abnormal genitalia MIM#300215 Lissencephaly, X-linked 2 MIM#300215 Mental retardation, X-linked 29 and others MIM#300419 Partington syndrome MIM#309510 Proud syndrome MIM#300004 Tags
Green Green List (high evidence)	ARX_EIEE1_GCN1 STR Genetic Epilepsy v2.60	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Disease associations Developmental and epileptic encephalopathy 1 MIM#308350 Intellectual disability, X-linked 29 and others MIM#300419 Partington syndrome MIM#309510 Tags
Green Green List (high evidence)	ARX_EIEE1_GCN1 STR Dystonia and Chorea v1.13	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Disease associations Developmental and epileptic encephalopathy 1 MIM#308350 Intellectual disability, X-linked 29 and others MIM#300419 Partington syndrome MIM#309510 Tags
Green Green List (high evidence)	ARX_EIEE1_GCN2 STR Dystonia and Chorea v1.13	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Disease associations Developmental and epileptic encephalopathy 1 MIM#308350 Intellectual disability, X-linked 29 and others MIM#300419 Partington syndrome MIM#309510 Tags
Green Green List (high evidence)	ARX_EIEE1_GCN2 STR Genetic Epilepsy v2.60	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Disease associations Developmental and epileptic encephalopathy 1 MIM#308350 Intellectual disability, X-linked 29 and others MIM#300419 Partington syndrome MIM#309510 Tags
Green Green List (high evidence)	ASAH1 Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Farber lipogranulomatosis, MIM# 228000 Tags
Green Green List (high evidence)	ASAH1 Genetic Epilepsy v2.60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 Tags
Green Green List (high evidence)	ASAH1 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Spinal muscular atrophy with progressive myoclonic epilepsy (MIM#159950) Tags
Green Green List (high evidence)	ASCC1 Motor Neurone Disease v2.29	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations spinal muscular atrophy with congenital bone fractures 2 (MONDO:0014807 MIM#616867) Tags
Green Green List (high evidence)	ASCC1 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Spinal muscular atrophy with congenital bone fractures 2 Tags
Green Green List (high evidence)	ASH1L Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Mental retardation, autosomal dominant 52, MIM#617796 Tags
Green Green List (high evidence)	ASL Miscellaneous Metabolic Disorders v2.3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Expert list Victorian Clinical Genetics Services Expert Review Green Disease associations Argininosuccinic aciduria MIM#207900 Urea cycle disorders and inherited hyperammonaemias disorder of amino acid metabolism Tags treatable
Green Green List (high evidence)	ASNS Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Expert list Victorian Clinical Genetics Services Disease associations Asparagine synthetase deficiency, MIM#615574 microcephaly cerebral atrophy drug-resistant epilepsy axial hypotonia progressive appendicular spasticity abnormal myelination Tags
Green Green List (high evidence)	ASPA Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Canavan disease MIM#271900 disorder of amino acid metabolism Tags
Green Green List (high evidence)	ASPA Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Canavan disease MIM#271900 disorder of amino acid metabolism Tags
Green Green List (high evidence)	ASPA Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Canavan disease, MIM# 271900 Tags
Green Green List (high evidence)	ASPM Genetic Epilepsy v2.60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Literature Expert Review Disease associations Primary autosomal recessive Microcephaly 5 - OMIM #608716 Tags
Green Green List (high evidence)	ASS1 Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Citrullinemia MIM#215700 Urea cycle disorders and inherited hyperammonaemias disorder of amino acid metabolism Tags treatable
Green Green List (high evidence)	ASTN1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Neurodevelopmental disorder (MONDO:0700092), ASTN1-related Tags
Green Green List (high evidence)	ASXL3 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature ClinGen NHS GMS Disease associations Bainbridge-Ropers syndrome, OMIM:615115 Tags
Green Green List (high evidence)	ATAD1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Hyperekplexia 4, MIM#618011 Tags
Green Green List (high evidence)	ATAD3A Hereditary Neuropathy v3.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Disease associations Harel-Yoon Syndrome (MIM#6173183) Tags
Green Green List (high evidence)	ATAD3A Mitochondrial disease v2.12	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Harel-Yoon syndrome, MIM# 617183 Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME), MIM# 618810 Tags SV/CNV
Green Green List (high evidence)	ATAD3A Hereditary Spastic Paraplegia v2.111	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Harel-Yoon syndrome, MIM# 617183 Tags
Green Green List (high evidence)	ATCAY Ataxia v2.272	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Ataxia, cerebellar, Cayman type, MIM# 601238 MONDO:0011025 Tags
Green Green List (high evidence)	ATG12 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Disease associations Neurodevelopmental disorder with seizures and cerebellar hypoplasia, MIM#621710 Tags
Green Green List (high evidence)	ATG7 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Spinocerebellar ataxia, SCAR31, MIM#619422 Tags
Green Green List (high evidence)	ATIC Miscellaneous Metabolic Disorders v2.3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Disease associations AICA-ribosiduria due to ATIC deficiency MIM#608688 disorders of purine metabolism Tags
Green Green List (high evidence)	ATL1 Pain syndromes v1.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Disease associations HSN1D Neuropathy, hereditary sensory, type ID, 613708 Hereditary spastic paraplegia, 182600 Hereditary sensory neuropathy Tags
Green Green List (high evidence)	ATL1 Motor Neurone Disease v2.29	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations Spastic paraplegia 3A, autosomal dominant MIM#182600 Tags
Green Green List (high evidence)	ATL1 Hereditary Spastic Paraplegia v2.111	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Hereditary sensory neuropathy type ID, MIM 613708 Spastic paraplegia 3A, MIM 182600 Hereditary spastic paraplegia, AR Tags
Green Green List (high evidence)	ATL1 Hereditary Neuropathy v3.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Disease associations Neuropathy, hereditary sensory, type ID , MIM#613708 MONDO:0013381 Tags
Green Green List (high evidence)	ATL3 Pain syndromes v1.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Disease associations Neuropathy, hereditary sensory, type IF, 615632 HSN1F Tags
Green Green List (high evidence)	ATL3 Hereditary Neuropathy v3.0	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Disease associations neuropathy, hereditary sensory, type 1F (MONDO:0014286) Tags founder
Green Green List (high evidence)	ATM Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Ataxia telangiectasia Dystonia Tags
Green Green List (high evidence)	ATM Ataxia v2.272	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations Ataxia-telangiectasia MIM#208900 Tags
Green Green List (high evidence)	ATN1 Genetic Epilepsy v2.60	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert Review Green Literature Disease associations Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, MIM#618494 Tags
Green Green List (high evidence)	ATN1_DRPLA_CAG STR Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Dentatorubral-pallidoluysian atrophy MIM#125370 Tags
Green Green List (high evidence)	ATN1_DRPLA_CAG STR Early-onset Dementia v2.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Dentatorubral-pallidoluysian atrophy MIM#125370 Tags STR
Green Green List (high evidence)	ATN1_DRPLA_CAG STR Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert List Disease associations Dentatorubral-pallidoluysian atrophy MIM#125370 Tags
Green Green List (high evidence)	ATN1_DRPLA_CAG STR Dystonia and Chorea v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Expert list Disease associations Dentatorubral-pallidoluysian atrophy MIM#125370 Tags adult-onset paediatric-onset
Green Green List (high evidence)	ATP11A Leukodystrophy v1.12	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Leukodystrophy, hypomyelinating, 24 , MIM# 619851 Tags
Green Green List (high evidence)	ATP11A Genetic Epilepsy v2.60	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Disease associations Focal epilepsy MONDO:0005384, ATP11A Leukodystrophy, hypomyelinating, 24 MIM#619851 Tags
Green Green List (high evidence)	ATP13A2 Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Spastic paraplegia 78, autosomal recessive 617225 Tags
Green Green List (high evidence)	ATP13A2 Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Kufor-Rakeb syndrome MIM#606693 Tags
Green Green List (high evidence)	ATP13A2 Neurodegeneration with brain iron accumulation v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green GeneReviews Disease associations Kufor-Rakeb syndrome (OMIM 606693) Tags
Green Green List (high evidence)	ATP13A2 Early-onset Parkinson disease v3.33	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations parkinsonism due to ATP13A2 deficiency MONDO:0017809 Tags
Green Green List (high evidence)	ATP13A2 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Kufor-Rakeb syndrome MIM#606693 Tags
Green Green List (high evidence)	ATP13A2 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Royal Melbourne Hospital Disease associations Spastic paraplegia 78, autosomal recessive, 617225 Kufor-Rakeb syndrome, 606693 AR complicated hereditary spastic paraplegia Adult-onset lower-limb predominant spastic paraparesis Tags
Green Green List (high evidence)	ATP13A2 Early-onset Dementia v2.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Kufor-Rakeb syndrome, MIM# 606693 Tags
Green Green List (high evidence)	ATP13A2 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Disease associations Kufor-Rakeb syndrome MIM#606693 Tags
Green Green List (high evidence)	ATP13A2 Motor Neurone Disease v2.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Kufor-Rakeb syndrome MONDO:0011706 Tags
Green Green List (high evidence)	ATP1A1 Hereditary Spastic Paraplegia v2.111	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature Disease associations Hereditary spastic paraplegia Tags
Green Green List (high evidence)	ATP1A1 Hereditary Neuropathy v3.0	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Disease associations Charcot-Marie-Tooth disease, axonal, type 2DD,MIM# 618036 MONDO:0054833 Tags
Green Green List (high evidence)	ATP1A1 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Intellectual disability seizures hypomagnesaemia Tags
Green Green List (high evidence)	ATP1A2 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Developmental and epileptic encephalopathy 98, MIM# 619605 Tags
Green Green List (high evidence)	ATP1A2 Brain Calcification v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Disease associations Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602 Tags
Green Green List (high evidence)	ATP1A2 Brain Channelopathies v2.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Alternating hemiplegia of childhood 1, MIM# 104290 Tags
Green Green List (high evidence)	ATP1A3 Genetic Epilepsy v2.60	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations ATP1A3-associated neurological disorder, MONDO:0700002 Tags
Green Green List (high evidence)	ATP1A3 Early-onset Parkinson disease v3.33	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations ATP1A3-associated neurological disorder MONDO:0700002 Tags
Green Green List (high evidence)	ATP1A3 Dystonia and Chorea v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert Review Green Disease associations ATP1A3-associated neurological disorder, MONDO:0700002 Tags
Green Green List (high evidence)	ATP1A3 Brain Channelopathies v2.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations ATP1A3-associated neurological disorder, MONDO:0700002 Tags
Green Green List (high evidence)	ATP1A3 Ataxia v2.272	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert list Disease associations ATP1A3-associated neurological disorder, MONDO:0700002 Tags
Green Green List (high evidence)	ATP1A3 Hereditary Spastic Paraplegia v2.111	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Syndromic disease, MONDO:0002254 Tags
Green Green List (high evidence)	ATP2A1 Rhabdomyolysis and Metabolic Myopathy v2.0	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Brody myopathy, MIM# 601003 Tags
Green Green List (high evidence)	ATP2B1 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Intellectual developmental disorder, autosomal dominant 66, MIM# 619910 Tags
Green Green List (high evidence)	ATP2B2 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental Disorder, MONDO:0700092, ATP2B2-related Tags
Green Green List (high evidence)	ATP2B2 Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental Disorder, MONDO:0700092, ATP2B2-related Tags
Green Green List (high evidence)	ATP2B2 Dystonia and Chorea v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental Disorder, MONDO:0700092, ATP2B2-related Tags
Green Green List (high evidence)	ATP2B3 Ataxia v2.272	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert list Royal Melbourne Hospital Royal Melbourne Hospital GeneReviews GeneReviews Disease associations Spinocerebellar ataxia, X-linked 1 Tags
Green Green List (high evidence)	ATP5F1A Mitochondrial disease v2.12	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A (MIM#620358) Combined oxidative phosphorylation deficiency 22 616045 Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228 Mitochondrial disorder, autosomal dominant Tags new gene name
Green Green List (high evidence)	ATP5F1A Dystonia and Chorea v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A (MIM#620358), AD Tags new gene name
Green Green List (high evidence)	ATP5F1E Mitochondrial disease v2.12	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053 Tags new gene name
Green Green List (high evidence)	ATP5MC3 Dystonia and Chorea v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Dystonia, early-onset, and/or spastic paraplegia, MIM# 619681 Tags new gene name
Green Green List (high evidence)	ATP5MC3 Mitochondrial disease v2.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature Disease associations Dystonia, early-onset, and/or spastic paraplegia, MIM#619681 Tags new gene name
Green Green List (high evidence)	ATP5MC3 Hereditary Spastic Paraplegia v2.111	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature Literature Disease associations Dystonia, early-onset, and/or spastic paraplegia, MIM#619681 Tags new gene name
Green Green List (high evidence)	ATP5PO Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, MIM# 620359 Tags new gene name
Green Green List (high evidence)	ATP5PO Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, MIM# 620359 Tags new gene name
Green Green List (high evidence)	ATP6AP1 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations immunodeficiency-47 (MIM# 300972) Tags
Green Green List (high evidence)	ATP6AP2 Genetic Epilepsy v2.60	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Intellectual developmental disorder, X-linked, syndromic, Hedera type MIM#300423 Tags
Green Green List (high evidence)	ATP6AP2 Early-onset Parkinson disease v3.33	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Disease associations Parkinsonism with spasticity, X-linked, MIM# 300911 Tags
Green Green List (high evidence)	ATP6AP2 Congenital Disorders of Glycosylation v2.2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Disease associations Congenital disorder of glycosylation, type IIr, MIM# 301045 Tags
Green Green List (high evidence)	ATP6AP2 Hereditary Spastic Paraplegia v2.111	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Disease associations X-linked parkinsonism-spasticity syndrome, MONDO:0010482 syndromic X-linked intellectual disability Hedera type, MONDO:0010319 Tags
Green Green List (high evidence)	ATP6V0A1 Genetic Epilepsy v2.60	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Disease associations Developmental and epileptic encephalopathy 104 MIM#619970 Neurodevelopmental disorder with epilepsy and brain atrophy MIM#619971 Tags
Green Green List (high evidence)	ATP6V0A1 Ataxia v2.272	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Disease associations Developmental and epileptic encephalopathy 104 MIM#619970 Neurodevelopmental disorder with epilepsy and brain atrophy MIM#619971 Tags
Green Green List (high evidence)	ATP6V0A2 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Cutis laxa, type IIA,219200 Tags
Green Green List (high evidence)	ATP6V0A2 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Cutis laxa, autosomal recessive, type IIA, MIM# 219200 Wrinkly skin syndrome, MIM#278250 Tags
Green Green List (high evidence)	ATP6V0C Genetic Epilepsy v2.60	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Literature Disease associations Epilepsy, early-onset, with or without developmental delay, MIM#620465 Epilepsy Intellectual Disability microcephaly Tags SV/CNV
Green Green List (high evidence)	ATP6V1A Genetic Epilepsy v2.60	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Disease associations Epileptic encephalopathy, infantile or early childhood, 618012 Cutis laxa, type IID, 617403 Tags
Green Green List (high evidence)	ATP6V1B2 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Epileptic encephalopathy Intellectual Disability microcephaly, DOORS syndrome Tags
Green Green List (high evidence)	ATP7A Miscellaneous Metabolic Disorders v2.3	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Disease associations Menkes disease MIM#309400 Occipital horn syndrome MIM#304150 disorder of copper matabolism Tags
Green Green List (high evidence)	ATP7A Genetic Epilepsy v2.60	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Green NHS GMS Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Menkes disease MIM#309400 Tags treatable
Green Green List (high evidence)	ATP7A Metal Metabolism Disorders v1.1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Disease associations Disorders of copper metabolism Menkes disease MONDO:0010651, occipital Horn Syndrome (OHS, OMIM #304150), X-linked distal spinal muscular atrophy-3 (SMAX3, OMIM #300489) Tags
Green Green List (high evidence)	ATP7A Leukodystrophy v1.12	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Disease associations Menkes disease, 309400 Tags treatable
Green Green List (high evidence)	ATP7A Hereditary Neuropathy v3.0	4 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital NHS GMS NHS GMS Royal Melbourne Hospital Disease associations X-linked distal spinal muscular atrophy type 3 (MONDO:0010338) Tags
Green Green List (high evidence)	ATP7B Brain Channelopathies v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Wilson disease, MIM# 277900 Tags
Green Green List (high evidence)	ATP7B Metal Metabolism Disorders v1.1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS Genomic Medicine Service Expert Review Green Genomics England PanelApp Disease associations 277900 WILSON DISEASE Tags
Green Green List (high evidence)	ATP7B Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Wilson disease, MIM# 277900 Dystonia Tags
Green Green List (high evidence)	ATP7B Ataxia v2.272	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Wilson disease 277900 Wilson disease, 277900 Tags
Green Green List (high evidence)	ATP7B Early-onset Parkinson disease v3.33	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Wilson disease MIM#277900 Tags
Green Green List (high evidence)	ATP8A2 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert list Victorian Clinical Genetics Services Disease associations Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, MIM#615268 Tags
Green Green List (high evidence)	ATP8B1 Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Cholestasis, progressive familial intrahepatic 1 MIM#211600 disorder of bile acid metabolism Tags
Green Green List (high evidence)	ATP9A Genetic Epilepsy v2.60	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Disease associations Neurodevelopmental disorder with poor growth and behavioural abnormalities, MIM# 620242 Tags
Green Green List (high evidence)	ATRX Genetic Epilepsy v2.60	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations ATR-X-related syndrome MONDO:0016980 Tags
Green Green List (high evidence)	ATXN10_SCA10_ATTCT STR Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert List Disease associations Spinocerebellar ataxia 10 MIM#603516 Tags
Green Green List (high evidence)	ATXN1_SCA1_CAG STR Early-onset Parkinson disease v3.33	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Spinocerebellar Ataxia type 1 Parkinsonism OMIM 164400 Tags
Green Green List (high evidence)	ATXN1_SCA1_CAG STR Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert List Disease associations Spinocerebellar ataxia 1 MIM#164400 Tags
Green Green List (high evidence)	ATXN2_SCA2_CAG STR Motor Neurone Disease v2.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Spinocerebellar ataxia 2 MIM#183090 Tags
Green Green List (high evidence)	ATXN2_SCA2_CAG STR Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Spinocerebellar ataxia type 2 MONDO:0008458 Tags
Green Green List (high evidence)	ATXN2_SCA2_CAG STR Early-onset Parkinson disease v3.33	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Spinocerebellar ataxia 2 MIM#183090 Tags
Green Green List (high evidence)	ATXN3_SCA3_CAG STR Early-onset Parkinson disease v3.33	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Machado-Joseph disease MIM#109150 Spinocerebellar ataxia type 3 Tags
Green Green List (high evidence)	ATXN3_SCA3_CAG STR Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert List Disease associations Machado-Joseph disease MIM#109150 Spinocerebellar ataxia type 3 Tags
Green Green List (high evidence)	ATXN7_SCA7_CAG STR Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert List Disease associations Spinocerebellar ataxia 7 MIM#164500 Tags
Green Green List (high evidence)	ATXN8OS_SCA8_CTG STR Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert List Disease associations Spinocerebellar ataxia 8 MIM#608768 Tags
Green Green List (high evidence)	ATXN8OS_SCA8_CTG STR Early-onset Parkinson disease v3.33	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Spinocerebellar ataxia 8 MIM#608768 Tags
Green Green List (high evidence)	AUH Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations 3-Methylglutaconic aciduria type 1 Dystonia Tags
Green Green List (high evidence)	AUH Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations 3-methylglutaconic aciduria, type I, MIM# 250950 Tags
Green Green List (high evidence)	B3GALNT2 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181 MONDO:0014071 Tags
Green Green List (high evidence)	B3GALNT2 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11 MIM#615181 Tags
Green Green List (high evidence)	B3GALT6 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Al-Gazali syndrome, MIM# 609465 Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM# 615349, MONDO:0014139 Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM# 271640, MONDO:0010075 Tags
Green Green List (high evidence)	B3GAT3 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM# 245600 Tags
Green Green List (high evidence)	B3GLCT Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Peters-plus syndrome (MIM# 261540) Tags
Green Green List (high evidence)	B4GALNT1 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Spastic paraplegia 26, autosomal recessive MIM#609195 Tags
Green Green List (high evidence)	B4GALNT1 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Spastic paraplegia 26, autosomal recessive (MIM #609195) Tags
Green Green List (high evidence)	B4GALNT1 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations hereditary spastic paraplegia 26, MONDO:0012213 Tags
Green Green List (high evidence)	B4GALT1 Congenital Disorders of Glycosylation v2.2	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	B4GALT7 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Ehlers-Danlos syndrome, spondylodysplastic type, 1, 130070 Tags founder
Green Green List (high evidence)	BAAT Miscellaneous Metabolic Disorders v2.3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Bile acid conjugation defect 1, MIM# 619232 Hypercholanemia, familial MIM#607748 disorder of bile acid metabolism Tags
Green Green List (high evidence)	BAG3 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Disease associations Myopathy, myofibrillar, 6 612954 Tags
Green Green List (high evidence)	BAIAP2 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature Disease associations Developmental and epileptic encephalopathy 120, MIM# 621468 Tags
Green Green List (high evidence)	BAP1 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Kury-Isidor syndrome , MIM#619762 Tags
Green Green List (high evidence)	BBS1 Ataxia v2.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 1, 209900 Tags
Green Green List (high evidence)	BCAP31 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Deafness, dystonia, and cerebral hypomyelination, 300475 Tags
Green Green List (high evidence)	BCAP31 Dystonia and Chorea v1.13	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Disease associations Deafness, dystonia and cerebellar hypomyelination, MIM#300475 Tags
Green Green List (high evidence)	BCAS3 Neurodegeneration with brain iron accumulation v2.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Disease associations Hengel-Maroofian-Schols syndrome, MIM# 619641 Tags
Green Green List (high evidence)	BCAS3 Hereditary Spastic Paraplegia v2.111	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Hengel-Maroofian-Schols syndrome, MIM# 619641 Tags
Green Green List (high evidence)	BCAS3 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Hengel-Maroofian-Schols syndrome, MIM# 619641 Tags
Green Green List (high evidence)	BCKDHA Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Maple syrup urine disease, type Ia, MIM# 248600 Tags treatable
Green Green List (high evidence)	BCKDHB Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Maple Syrup Urine Disease, Metabolic encephalopathy, elevated branched chain amino acids in urine, acute axonal neuropathy Tags treatable
Green Green List (high evidence)	BCKDHB Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Maple syrup urine disease, type Ib, MIM# 248600 Tags treatable
Green Green List (high evidence)	BCKDHB Ataxia v2.272	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Disease associations Episodic ataxia during metabolic crises paroxysmal nonkinesigenic dyskinesia Tags treatable
Green Green List (high evidence)	BCKDK Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Branched-chain keto acid dehydrogenase kinase deficiency MIM#614923 Tags
Green Green List (high evidence)	BCLAF3_FRAXG_CCG STR Genetic Epilepsy v2.60	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Literature Expert Review Green Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092 Tags
Green Green List (high evidence)	BCS1L Genetic Epilepsy v2.60	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Royal Melbourne Hospital Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Bjornstad syndrome, MIM# 262000 Leigh syndrome, MIM# 256000 BCS1L-related mitochondrial disease Tags
Green Green List (high evidence)	BCS1L Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Mitochondrial complex III disorders Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	BCS1L Mitochondrial disease v2.12	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Royal Melbourne Hospital Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Disease associations Bjornstad syndrome, MIM# 262000 Leigh syndrome, MIM# 256000 BCS1L-related mitochondrial disease Tags
Green Green List (high evidence)	BEAN1_SCA31_TGGAA STR Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert List Disease associations Spinocerebellar ataxia 31 MIM#117210 Tags
Green Green List (high evidence)	BHLHE22 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092 Tags
Green Green List (high evidence)	BICD2 Hereditary Neuropathy v3.0	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Disease associations Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM# 615290 MONDO:0014121 Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM# 618291 Tags
Green Green List (high evidence)	BICD2 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert list Victorian Clinical Genetics Services Disease associations distal myopathy MONDO:0018949 Tags
Green Green List (high evidence)	BLOC1S1 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder (MONDO:0700092), BLOC1S1-related Tags
Green Green List (high evidence)	BLOC1S1 Leukodystrophy v1.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder (MONDO:0700092), BLOC1S1-related Tags
Green Green List (high evidence)	BLOC1S1 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092 Tags
Green Green List (high evidence)	BLTP1 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations lkuraya-Kucinskas syndrome, MIM# 617822 Tags
Green Green List (high evidence)	BOLA3 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Disease associations Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM# 614299 Tags
Green Green List (high evidence)	BOLA3 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM#614299 Tags
Green Green List (high evidence)	BOLA3 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM# 614299 Tags
Green Green List (high evidence)	BORCS5 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodegeneration, infantile-onset, with optic atrophy and structural brain abnormalities 2, MIM# 621704 Tags
Green Green List (high evidence)	BORCS5 Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodegeneration, infantile-onset, with optic atrophy and structural brain abnormalities 2, MIM# 621704 Tags
Green Green List (high evidence)	BORCS5 Hereditary Spastic Paraplegia v2.111	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodegeneration, infantile-onset, with optic atrophy and structural brain abnormalities 2, MIM# 621704 Tags
Green Green List (high evidence)	BORCS8 Leukodystrophy v1.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, MIM# 620987 Tags
Green Green List (high evidence)	BPTF Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies AD, MIM#617755 Tags
Green Green List (high evidence)	BRAF Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Cardiofaciocutaneous syndrome, MIM# 115150 Tags
Green Green List (high evidence)	BRAT1 Ataxia v2.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056 Tags
Green Green List (high evidence)	BRAT1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056 Tags
Green Green List (high evidence)	BRSK1 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, BRSK1-related Tags
Green Green List (high evidence)	BSCL2 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Silver spastic paraplegia syndrome MIM#270685 Encephalopathy, progressive, with or without lipodystrophy MIM#615924 Tags
Green Green List (high evidence)	BSCL2 Motor Neurone Disease v2.29	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Silver spastic paraplegia syndrome MIM#270685 Neuropathy, distal hereditary motor, type VA MIM#600794 Tags
Green Green List (high evidence)	BSCL2 Hereditary Neuropathy v3.0	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Disease associations Neuropathy, distal hereditary motor, type VC, MIM# 619112 Tags
Green Green List (high evidence)	BSCL2 Genetic Epilepsy v2.60	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Encephalopathy, progressive, with or without lipodystrophy, MIM#615924 Developmental and epileptic encephalopathy, BSCL2-related, dominant, MONDO:0100062 Tags
Green Green List (high evidence)	BSN Genetic Epilepsy v2.60	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder (MONDO:0700092), BSN-related Tags
Green Green List (high evidence)	BTD Miscellaneous Metabolic Disorders v2.3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Biotinidase deficiency MIM#253260 disorder of biotin metabolism Tags treatable
Green Green List (high evidence)	BTD Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Biotinidase deficiency, MIM 253260 Tags treatable
Green Green List (high evidence)	C12orf57 Genetic Epilepsy v2.60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Temtamy syndrome MIM#218340 Tags
Green Green List (high evidence)	C19orf12 Dystonia and Chorea v1.13	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations neurodegeneration with brain iron accumulation 4 MONDO:0013674 Tags
Green Green List (high evidence)	C19orf12 Neurodegeneration with brain iron accumulation v2.0	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green GeneReviews Disease associations Mitochondrial membrane protein-associated neurodegeneration (MPAN) Neurodegeneration with brain iron accumulation 4, MIM# 614298 Spastic paraplegia 43, autosomal recessive, MIM# 615043 Tags
Green Green List (high evidence)	C19orf12 Early-onset Dementia v2.14	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Neurodegeneration with brain iron accumulation 4, MIM# 614298 Tags
Green Green List (high evidence)	C19orf12 Hereditary Neuropathy v3.0	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Neurodegeneration with brain iron accumulation 4 (NBIA) (MONDO:0013674) Tags
Green Green List (high evidence)	C19orf12 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Neurodegeneration with brain iron accumulation 4, 614298 Spastic paraplegia 43, autosomal recessive, 615043 Tags
Green Green List (high evidence)	C19orf12 Early-onset Parkinson disease v3.33	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations neurodegeneration with brain iron accumulation 4 MONDO:0013674 Tags
Green Green List (high evidence)	C19orf12 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations neurodegeneration with brain iron accumulation 4, MONDO:0013674 Tags
Green Green List (high evidence)	C1QA Brain Calcification v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Immunology Flagship Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations C1q deficiency, MIM# 613652 Tags
Green Green List (high evidence)	C1QBP Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Victorian Clinical Genetics Services Disease associations Progressive external opthalmoplegia mitochondrial myopathy Tags
Green Green List (high evidence)	C1QBP Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Combined oxidative phosphorylation deficiency 33, MIM# 617713 Tags
Green Green List (high evidence)	C1R Leukodystrophy v1.12	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Other Expert Review Green Other Literature Disease associations Ehlers-Danlos syndrome, periodontal type, 1 (MIM# 130080) Leukodystrophy - adult onset Tags
Green Green List (high evidence)	C2orf69 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423 Tags
Green Green List (high evidence)	C2orf69 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423 Tags
Green Green List (high evidence)	C2orf69 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423 Tags
Green Green List (high evidence)	C9orf72_FTDALS_GGGGCC STR Early-onset Dementia v2.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550 Tags
Green Green List (high evidence)	C9orf72_FTDALS_GGGGCC STR Dystonia and Chorea v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550 Tags
Green Green List (high evidence)	C9orf72_FTDALS_GGGGCC STR Early-onset Parkinson disease v3.33	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550 Tags
Green Green List (high evidence)	C9orf72_FTDALS_GGGGCC STR Motor Neurone Disease v2.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550 Tags
Green Green List (high evidence)	C9orf72_FTDALS_GGGGCC STR Leukodystrophy v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Expert Review Green Literature Disease associations frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MONDO:0007105 Tags
Green Green List (high evidence)	CA2 Brain Calcification v3.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM# 259730 Tags
Green Green List (high evidence)	CA5A Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Hyperammonemia due to carbonic anhydrase VA deficiency, MIM# 615751 Tags SV/CNV treatable
Green Green List (high evidence)	CA8 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert list Victorian Clinical Genetics Services Disease associations Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 Tags
Green Green List (high evidence)	CACNA1A Ataxia v2.272	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Episodic ataxia, type 2 MIM#108500 Tags STR
Green Green List (high evidence)	CACNA1A Dystonia and Chorea v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Episodic ataxia, type 2 MIM#108500 Spinocerebellar ataxia 6 MIM#183086 Tags
Green Green List (high evidence)	CACNA1A Brain Channelopathies v2.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert list Victorian Clinical Genetics Services Disease associations Episodic ataxia, type 2 MIM#108500 Tags STR
Green Green List (high evidence)	CACNA1A Genetic Epilepsy v2.60	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Developmental and epileptic encephalopathy 42A, MIM# 617106 Developmental and epileptic encephalopathy 42B, MIM#621692 Tags
Green Green List (high evidence)	CACNA1A_SCA6_CAG STR Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert List Disease associations Spinocerebellar ataxia 6 MIM#183086 Episodic ataxia, type 2 MIM#108500 Tags
Green Green List (high evidence)	CACNA1B Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, MIM# 618497 Tags
Green Green List (high evidence)	CACNA1C Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures, MIM# 620029 Tags
Green Green List (high evidence)	CACNA1C Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092 Tags
Green Green List (high evidence)	CACNA1D Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Primary aldosteronism, seizures, and neurologic abnormalities MIM#615474 Tags
Green Green List (high evidence)	CACNA1E Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Epileptic encephalopathy, early infantile, 69, MIM#618285 Tags
Green Green List (high evidence)	CACNA1G Ataxia v2.272	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits MIM#618087 Tags
Green Green List (high evidence)	CACNA1G Dystonia and Chorea v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, MIM# 618087 Tags
Green Green List (high evidence)	CACNA1G Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, MIM#618087 Tags
Green Green List (high evidence)	CACNA1I Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with variable intellectual disability and speech impairment, with or without seizures (NEDISS), MIM#620114 Tags
Green Green List (high evidence)	CACNA1S Rhabdomyolysis and Metabolic Myopathy v2.0	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Expert list Royal Melbourne Hospital Disease associations {Malignant hyperthermia susceptibility 5}, 601887 Tags
Green Green List (high evidence)	CACNA2D2 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Cerebellar atrophy with seizures and variable developmental delay MIM#618501 Tags
Green Green List (high evidence)	CACNA2D2 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Cerebellar atrophy with seizures and variable developmental delay MIM#618501 Tags
Green Green List (high evidence)	CAD Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Epileptic encephalopathy, early infantile, 50, MIM# 616457 Tags
Green Green List (high evidence)	CAD Ataxia v2.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Expert list Disease associations Epileptic encephalopathy, early infantile, 50 OMIM # 616457 Tags
Green Green List (high evidence)	CADM3 Hereditary Neuropathy v3.0	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Literature Disease associations Charcot-Marie-Tooth disease, axonal, type 2FF, MIM# 619519 Tags
Green Green List (high evidence)	CAMK2A Genetic Epilepsy v2.60	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Disease associations ?Mental retardation, autosomal recessive 63 MIM#618095 Mental retardation, autosomal dominant 53 MIM#617798 Tags
Green Green List (high evidence)	CAMK2B Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Disease associations Mental retardation, autosomal dominant 54, MIM# 617799 Tags
Green Green List (high evidence)	CAMK4 Dystonia and Chorea v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Disease associations Neurodevelopmental disorder, MONDO:0700092, CAMK4-related Tags
Green Green List (high evidence)	CAMSAP1 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Cortical dysplasia, complex, with other brain malformations 12, MIM# 620316 Tags
Green Green List (high evidence)	CAMTA1 Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Cerebellarataxia, nonprogressive, with mental retardation, 614756 Cerebellar ataxia with mental retardation, 614756 Tags
Green Green List (high evidence)	CAMTA1 Hereditary Spastic Paraplegia v2.111	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations cerebellar dysfunction with variable cognitive and behavioral abnormalities, MONDO:0013886 Tags
Green Green List (high evidence)	CAPN1 Ataxia v2.272	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Expert list Expert list Disease associations Spastic paraplegia 76, autosomal recessive, 616907 MONDO:0014827 Tags
Green Green List (high evidence)	CAPN1 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Royal Melbourne Hospital Expert Review Green Expert Review Green Expert list Disease associations Spastic paraplegia 76 autosomal recessive, 616907 MONDO:0014827 Tags
Green Green List (high evidence)	CAPN3 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	4 reviews 4 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Royal Melbourne Hospital Disease associations Muscular dystrophy, limb-girdle, autosomal dominant 4, MIM# 618129 Muscular dystrophy, limb-girdle, autosomal recessive 1, MIM# 253600 Tags
Green Green List (high evidence)	CAPRIN1 Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Childhood Dementia Myoclonus-Ataxia Sensorimotor Neuropathy cerebellar atrophy cortical atrophy Tags
Green Green List (high evidence)	CAPRIN1 Genetic Epilepsy v2.60	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder, MIM# 620782 Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, MIM# 620636 Tags
Green Green List (high evidence)	CAPRIN1 Hereditary Neuropathy v3.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Childhood Dementia Myoclonus-Ataxia Sensorimotor Neuropathy cerebellar atrophy cortical atrophy Tags
Green Green List (high evidence)	CAPRIN1 Early-onset Dementia v2.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Childhood Dementia Myoclonus-Ataxia Sensorimotor Neuropathy cerebellar atrophy cortical atrophy Tags
Green Green List (high evidence)	CARS2 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Combined oxidative phosphorylation deficiency 27, MIM# 616672 MONDO:0014728 Tags
Green Green List (high evidence)	CARS2 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Combined oxidative phosphorylation deficiency 27, MIM# 616672 Tags
Green Green List (high evidence)	CASK Genetic Epilepsy v2.60	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations FG syndrome 4 MIM#300422 Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749 Mental retardation, with or without nystagmus MIM#300422 Tags
Green Green List (high evidence)	CASK Ataxia v2.272	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Royal Melbourne Hospital Disease associations FG syndrome 4, 300422 Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749 Tags
Green Green List (high evidence)	CASP8 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Autoimmune lymphoproliferative syndrome, type IIB MIM#607271 Tags
Green Green List (high evidence)	CASQ1 Rhabdomyolysis and Metabolic Myopathy v2.0	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert Review Green Literature Disease associations Myopathy, vacuolar, with CASQ1 aggregates MIM#616231 Tags
Green Green List (high evidence)	CASQ1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Expert list Disease associations Myopathy, vacuolar, with CASQ1 aggregates 616231 Tags founder
Green Green List (high evidence)	CASR Brain Calcification v3.0	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Hypocalcemia, autosomal dominant, MIM# 601198 Tags
Green Green List (high evidence)	CAT Peroxisomal Disorders v1.8	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	CAV3 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Disease associations Myopathy, distal, Tateyama type 614321 Rippling muscle disease 2 606072 Tags
Green Green List (high evidence)	CAV3 Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Disease associations Muscular dystrophy, limb-girdle, type IC 607801 Rippling muscle disease 606072 Myopathy, distal, Tateyama type 614321 Tags
Green Green List (high evidence)	CBL Cerebral vascular malformations v2.0	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Disease associations early-onset moyamoya angiopathy Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563 Tags
Green Green List (high evidence)	CBS Miscellaneous Metabolic Disorders v2.3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Homocystinuria, B6-responsive and nonresponsive types MIM#236200 disorder of intracellular cobalamin metabolism metabolic disorder of sulfur metabolism Tags treatable
Green Green List (high evidence)	CBY1 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations intellectual disability cerebellar ataxia molar tooth sign polydactyly Joubert syndrome Tags
Green Green List (high evidence)	CC2D2A Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Joubert syndrome 9, MIM#612285 Tags
Green Green List (high evidence)	CC2D2A Ataxia v2.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Joubert syndrome 9, MIM#612285 Tags
Green Green List (high evidence)	CCDC186 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, CCDC186-related Tags
Green Green List (high evidence)	CCDC82 Hereditary Spastic Paraplegia v2.111	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, CCDC82-related Tags
Green Green List (high evidence)	CCDC88A Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations PEHO syndrome-like, 617507 Tags
Green Green List (high evidence)	CCDC88C Genetic Epilepsy v2.60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Hydrocephalus, congenital, 1 MIM#236600 Tags
Green Green List (high evidence)	CCM2 Cerebral vascular malformations v2.0	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Expert Review Green Disease associations Cerebral cavernous malformations 2 Cerebral Cavernous Malformation Capillary malformation-arteriovenous malformation 608354 Cerebral Cavernous Malformations Tags
Green Green List (high evidence)	CCT3 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, MIM# 621034 Tags
Green Green List (high evidence)	CD59 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy 612300 Tags
Green Green List (high evidence)	CD99L2 Hereditary Spastic Paraplegia v2.111	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Literature Disease associations Neurodevelopmental disorder, MONDO:0700092 CD99L2-related Tags
Green Green List (high evidence)	CD99L2 Ataxia v2.272	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Literature Disease associations Neurodevelopmental disorder, MONDO:0700092 CD99L2-related Tags
Green Green List (high evidence)	CDK13 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder MIM#617360 Tags
Green Green List (high evidence)	CDK19 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Intellectual disability epileptic encephalopathy Epileptic encephalopathy, early infantile, 87, MIM# 618916 Tags
Green Green List (high evidence)	CDK5 Genetic Epilepsy v2.60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Lissencephaly 7 with cerebellar hypoplasia MIM#616342 Tags
Green Green List (high evidence)	CDKL5 Genetic Epilepsy v2.60	3 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Developmental and epileptic encephalopathy 2, MIM# 300672 Tags
Green Green List (high evidence)	CECR2 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, CECR2-related neural tube defects, susceptibility to MONDO:0020705, CECR2-related Tags
Green Green List (high evidence)	CELF2 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Developmental and epileptic encephalopathy 97, MIM#619561 Tags
Green Green List (high evidence)	CELF4 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, CELF4-related Tags
Green Green List (high evidence)	CELSR1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder (MONDO:0700092), CELSR1-related Tags
Green Green List (high evidence)	CEP104 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Joubert syndrome 25, MONDO:0014770 ciliopathy, MONDO:0005308 Tags
Green Green List (high evidence)	CEP120 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Joubert syndrome 31, MONDO:0033310 Tags
Green Green List (high evidence)	CEP290 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Joubert syndrome 5, MIM# 610188 Tags
Green Green List (high evidence)	CEP41 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Joubert syndrome 15, MIM# 614464 Tags
Green Green List (high evidence)	CEP85L Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Disease associations Lissencephaly, posterior predominant Tags
Green Green List (high evidence)	CERS1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Epilepsy, progressive myoclonic, 8 MIM#616230 Tags
Green Green List (high evidence)	CERT1 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies (MIM#616351) Tags
Green Green List (high evidence)	CHCHD10 Mitochondrial disease v2.12	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 615911 Spinal muscular atrophy, Jokela type 615048 Myopathy, isolated mitochondrial, autosomal dominant 616209 Tags founder
Green Green List (high evidence)	CHCHD10 Motor Neurone Disease v2.29	3 reviews 1 green	Unknown	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	CHCHD10 Hereditary Neuropathy v3.0	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Disease associations Spinal muscular atrophy, Jokela type, MIM# 615048 Tags founder
Green Green List (high evidence)	CHCHD10 Rhabdomyolysis and Metabolic Myopathy v2.0	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations autosomal dominant mitochondrial myopathy with exercise intolerance MONDO:0014532 Tags
Green Green List (high evidence)	CHCHD10 Early-onset Dementia v2.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, MIM# 615911 Tags
Green Green List (high evidence)	CHCHD2 Early-onset Parkinson disease v3.33	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Parkinson disease 22, autosomal dominant MIM#616710 Tags
Green Green List (high evidence)	CHCHD2 Mitochondrial disease v2.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Parkinson disease 22, autosomal dominant MIM#616710 Tags
Green Green List (high evidence)	CHD1 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Pilarowski-Bjornsson syndrome, MIM#617682 Tags
Green Green List (high evidence)	CHD2 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Epileptic encephalopathy, childhood-onset (MIM # 615369) Tags
Green Green List (high evidence)	CHD3 Genetic Epilepsy v2.60	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Snijders Blok-Campeau syndrome, MONDO:0032600 Tags
Green Green List (high evidence)	CHD4 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Sifrim-Hitz-Weiss syndrome, MIM# 617159 Childhood idiopathic epilepsy and sinus arrhythmia Tags
Green Green List (high evidence)	CHD5 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Intellectual disability Epilepsy Tags
Green Green List (high evidence)	CHKA Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures, MIM#620023 Tags
Green Green List (high evidence)	CHKB Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Muscular dystrophy, congenital, megaconial type, MIM# 602541 Intellectual disability Abnormal mitochondria Tags
Green Green List (high evidence)	CHMP2B Early-onset Dementia v2.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (MIM#600795 MONDO:0010936) Tags
Green Green List (high evidence)	CHMP2B Motor Neurone Disease v2.29	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (MIM#600795, MONDO:0010936) Tags
Green Green List (high evidence)	CHRNA1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Disease associations myasthenic syndrome, congenital, 1B, fast-channel MONDO:0012156 Tags
Green Green List (high evidence)	CHRNA2 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Epilepsy, nocturnal frontal lobe, type 4 MIM#610353 Tags
Green Green List (high evidence)	CHRNA4 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Epilepsy, nocturnal frontal lobe, 1, MIM# 600513 Tags
Green Green List (high evidence)	CHRNB2 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Epilepsy, nocturnal frontal lobe, 3, MIM# 605375 Tags
Green Green List (high evidence)	CHST14 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776 Tags
Green Green List (high evidence)	CHST3 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Spondyloepiphyseal dysplasia with congenital joint dislocations, MIM# 143095 Tags
Green Green List (high evidence)	CHST6 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Macular corneal dystrophy, MIM# 217800, MONDO:0009020 Tags
Green Green List (high evidence)	CHSY1 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Temtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533 CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Tags
Green Green List (high evidence)	CIAO1 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Multiple mitochondrial dysfunctions syndrome 10, MIM#620960 Tags
Green Green List (high evidence)	CIC Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Mental retardation, autosomal dominant 45, MIM# 617600 Tags
Green Green List (high evidence)	CIC Leukodystrophy v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Expert list Disease associations Mental retardation, autosomal dominant 45 617600 Tags
Green Green List (high evidence)	CISD2 Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Disease associations Wolfram syndrome 2 MIM#604928 Tags
Green Green List (high evidence)	CLCN2 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Leukoencephalopathy with ataxia, MIM# 615651 Tags
Green Green List (high evidence)	CLCN2 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Leukoencephalopathy with ataxia, MIM# 615651 Tags
Green Green List (high evidence)	CLCN2 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations leukoencephalopathy with mild cerebellar ataxia and white matter edema, MONDO:0014292 Tags
Green Green List (high evidence)	CLCN3 Genetic Epilepsy v2.60	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Disease associations Neurodevelopmental disorder with hypotonia and brain abnormalities, MIM# 619512 Neurodevelopmental disorder with seizures and brain abnormalities, MIM# 619517 Tags
Green Green List (high evidence)	CLCN4 Genetic Epilepsy v2.60	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Raynaud-Claes syndrome, MIM#300114 intellectual disability epilepsy autistic features mood disorders cerebral white matter changes progressive appendicular spasticity Tags
Green Green List (high evidence)	CLCN6 Lysosomal Storage Disorder v2.2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Benign partial epilepsy febrile seizures NCL Tags
Green Green List (high evidence)	CLDN10 Metal Metabolism Disorders v1.1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations Disorders of magnesium metabolism HELIX syndrome MONDO:0060564 Tags
Green Green List (high evidence)	CLDN11 Leukodystrophy v1.12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Hypomyelinating leukodystrophy-22, MIM#619328 Tags
Green Green List (high evidence)	CLDN16 Metal Metabolism Disorders v1.1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations Disorders of magnesium metabolism renal hypomagnesemia 3 MONDO:0009550 Tags
Green Green List (high evidence)	CLDN19 Metal Metabolism Disorders v1.1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations Disorders of magnesium metabolism renal hypomagnesemia 5 with ocular involvement MONDO:0009548 Tags
Green Green List (high evidence)	CLDN5 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Syndromic disorder, MONDO:0002254, CLDN5-related Tags
Green Green List (high evidence)	CLDN5 Brain Calcification v3.0	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Syndromic disorder, MONDO:0002254, CLDN5-related Tags
Green Green List (high evidence)	CLN3 Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Ceroid lipofuscinosis, neuronal, 3, MIM# 204200 MONDO:0008767 Tags
Green Green List (high evidence)	CLN3 Early-onset Parkinson disease v3.33	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Ceroid lipofuscinosis, neuronal, 3 MIM#204200 Tags
Green Green List (high evidence)	CLN3 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Ceroid lipofuscinosis, neuronal, 3, MIM# 204200 MONDO:0008767 Tags
Green Green List (high evidence)	CLN3 Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Ceroid lipofuscinosis, neuronal, 3 204200 Tags
Green Green List (high evidence)	CLN5 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Ceroid lipofuscinosis neuronal 5, MIM# 256731 Tags
Green Green List (high evidence)	CLN5 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Ceroid lipofuscinosis, neuronal, 5, MIM# 256731 Tags
Green Green List (high evidence)	CLN5 Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Ceroid lipofuscinosis, neuronal, 5, MIM# 256731 MONDO:0009745 Tags
Green Green List (high evidence)	CLN6 Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Ceroid lipofuscinosis, neuronal, 6, MIM# 601780 Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, MIM# 204300 Tags
Green Green List (high evidence)	CLN6 Early-onset Dementia v2.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Ceroid lipofuscinosis, neuronal, Kufs type, adult onset MIM#204300 Tags
Green Green List (high evidence)	CLN6 Ataxia v2.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Ceroid lipofuscinosis, neuronal, 6, MIM# 601780 Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, MIM# 204300 Tags
Green Green List (high evidence)	CLN6 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Disease associations Ceroid lipofuscinosis, neuronal, 6, MIM# 601780 Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, MIM# 204300 Tags
Green Green List (high evidence)	CLN8 Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Ceroid lipofuscinosis, neuronal, 8, MIM# 600143 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003 Tags founder
Green Green List (high evidence)	CLN8 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Ceroid lipofuscinosis, neuronal, 8, MIM# 600143 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003 Tags
Green Green List (high evidence)	CLN8 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations neuronal ceroid lipofuscinosis 8, MONDO:0010830 Tags
Green Green List (high evidence)	CLP1 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Pontocerebellar hypoplasia, type 10 (MIM#615803) Tags
Green Green List (high evidence)	CLPB Genetic Epilepsy v2.60	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271 3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835 Tags
Green Green List (high evidence)	CLPB Mitochondrial disease v2.12	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271 3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835 Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813 Tags
Green Green List (high evidence)	CLPP Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Disease associations Perrault syndrome 3, MIM# 614129 Tags
Green Green List (high evidence)	CLPP Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Perrault syndrome 3, MIM#614129 Tags
Green Green List (high evidence)	CLPP Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Perrault syndrome 3, MIM# 614129 Tags
Green Green List (high evidence)	CLTC Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Mental retardation, autosomal dominant 56, MIM# 617854 Tags
Green Green List (high evidence)	CMIP Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature Disease associations Neurodevelopmental disorder, MONDO:0700092 Tags
Green Green List (high evidence)	CNBP_DM2_CCTG STR Hereditary Neuropathy v3.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert list Disease associations Myotonic dystrophy 2 MIM#602668 Tags adult-onset
Green Green List (high evidence)	CNBP_DM2_CCTG STR Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Myotonic dystrophy 2 MIM#602668 Tags
Green Green List (high evidence)	CNKSR2 Genetic Epilepsy v2.60	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008 Tags
Green Green List (high evidence)	CNNM2 Genetic Epilepsy v2.60	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Hypomagnesemia 6, renal MIM#613882 Hypomagnesemia, seizures, and mental retardation MIM#616418 Tags
Green Green List (high evidence)	CNNM2 Metal Metabolism Disorders v1.1	0 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Disease associations renal hypomagnesemia 6 MONDO:0013480 Disorders of magnesium metabolism Tags
Green Green List (high evidence)	CNOT9 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092 Tags
Green Green List (high evidence)	CNP Leukodystrophy v1.12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Leukodystrophy, hypomyelinating, 20, MIM# 619071 Tags
Green Green List (high evidence)	CNPY3 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Epileptic encephalopathy, early infantile, 60 (MIM 617929) Tags
Green Green List (high evidence)	CNTN2 Genetic Epilepsy v2.60	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Epilepsy, MONDO:0015653, CNTN2-related Epilepsy, myoclonic, familial adult, 5 MIM#615400 Tags
Green Green List (high evidence)	CNTNAP1 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Hypomyelinating neuropathy, congenital, 3 (MONDO:0017049 MIM#618186) Tags
Green Green List (high evidence)	CNTNAP1 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Hypomyelinating neuropathy, congenital, 3, MIM# 618186 Lethal congenital contracture syndrome 7, MIM# 616286 Tags
Green Green List (high evidence)	CNTNAP2 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Cortical dysplasia-focal epilepsy syndrome, MIM# 610042 Tags
Green Green List (high evidence)	COA6 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex IV deficiency, nuclear type 13, MIM# 616501 Cardioencephalomyopathy, fatal infantile, MONDO:0014668 Tags
Green Green List (high evidence)	COA7 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Literature Disease associations Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, MIM#618387 Tags
Green Green List (high evidence)	COA7 Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Expert list Disease associations Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MIM#618387 Tags
Green Green List (high evidence)	COA7 Early-onset Parkinson disease v3.33	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, MONDO:0020770 Tags
Green Green List (high evidence)	COA7 Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Expert Review Green Literature Disease associations spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, MONDO:0020770 Tags
Green Green List (high evidence)	COA7 Ataxia v2.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Expert list Disease associations Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MIM#618387 Tags
Green Green List (high evidence)	COA7 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MIM#618387 Tags
Green Green List (high evidence)	COA8 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Mitochondrial complex IV deficiency, MIM# 220110 Tags
Green Green List (high evidence)	COA8 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex IV deficiency, nuclear type 17, MIM#619061 Tags
Green Green List (high evidence)	COASY Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature NHS GMS Disease associations Neurodegeneration with brain iron accumulation 6 MIM#615643 Pontocerebellar hypoplasia, type 12 MIM#618266 Tags
Green Green List (high evidence)	COASY Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations neurodegeneration with brain iron accumulation 6, MONDO:0014290 Neurodegeneration with brain iron accumulation 6 615643 Tags
Green Green List (high evidence)	COASY Neurodegeneration with brain iron accumulation v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources GeneReviews Expert Review Green Disease associations OMIM 618266) COASY protein-associated neurodegeneration (CoPAN Tags
Green Green List (high evidence)	COASY Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations neurodegeneration with brain iron accumulation 6, MONDO:0014290 Tags
Green Green List (high evidence)	COG1 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type IIg, MIM# 611209 Tags
Green Green List (high evidence)	COG4 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type IIj 613489 Tags
Green Green List (high evidence)	COG5 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type IIi, MIM# 613612 Tags
Green Green List (high evidence)	COG6 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type IIl, MIM# 614576 Tags
Green Green List (high evidence)	COG7 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Congenital disorder of glycosylation, type IIe , MIM#608779 Tags
Green Green List (high evidence)	COG7 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type IIe , MIM#608779 Tags
Green Green List (high evidence)	COG8 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type IIh, MIM# 611182 Tags
Green Green List (high evidence)	COL18A1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Knobloch syndrome, type 1, MIM# 267750 Tags
Green Green List (high evidence)	COL3A1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Polymicrogyria with or without vascular-type ehlers-danlos syndrome, MIM # 618343 Tags
Green Green List (high evidence)	COL3A1 Cerebral vascular malformations v2.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Genomics England PanelApp Expert Review Green Disease associations Ehlers-Danlos syndrome, type IV 130050 Tags
Green Green List (high evidence)	COL4A1 Brain Calcification v3.0	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Brain small vessel disease with or without ocular anomalies, MIM# 175780 Tags
Green Green List (high evidence)	COL4A1 Early-onset Dementia v2.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Brain small vessel disease 1 with or without ocular anomalies MONDO:0008289 Microangiopathy and leukoencephalopathy, pontine, autosomal dominant MONDO:0032814 Tags
Green Green List (high evidence)	COL4A1 Cerebral vascular malformations v2.0	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Genomics England PanelApp Disease associations Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM# 611773 Brain small vessel disease with or without ocular anomalies, MIM# 175780 Tags
Green Green List (high evidence)	COL4A1 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps MIM#611773 Brain small vessel disease with or without ocular anomalies MIM#175780 Microangiopathy and leukoencephalopathy, pontine, autosomal dominant MIM#618564 Tags
Green Green List (high evidence)	COL4A1 Leukodystrophy v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Disease associations Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 Brain small vessel disease with or without ocular anomalies, 175780 Tags
Green Green List (high evidence)	COL4A2 Genetic Epilepsy v2.60	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Cerebral Palsy MONDO#0006497, COL4A2-related Brain small vessel disease 2 MIM# 614483 Tags
Green Green List (high evidence)	COL6A1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Royal Melbourne Hospital Disease associations Bethlem myopathy MIM#158810 Ullrich congenital muscular dystrophy MIM#254090 Tags
Green Green List (high evidence)	COL6A2 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Royal Melbourne Hospital Disease associations Bethlem myopathy 1 MIM#158810 Ullrich congenital muscular dystrophy 1 MIM#254090 Tags
Green Green List (high evidence)	COL6A3 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Royal Melbourne Hospital Disease associations Bethlem myopathy 1 MIM#158810 Ullrich congenital muscular dystrophy 1 MIM#254090 Tags
Green Green List (high evidence)	COLGALT1 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Brain small vessel disease 3 MIM#618360 Tags
Green Green List (high evidence)	COLGALT1 Brain Calcification v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Brain small vessel disease 3 MIM#618360 Tags
Green Green List (high evidence)	COQ2 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Coenzyme Q10 deficiency, primary, 1, MIM# 607426 MONDO:0011829 Tags
Green Green List (high evidence)	COQ2 Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Mitochondrial Leukoencephalopathy General Leukodystrophy & Mitochondrial Leukoencephalopathy Coenzyme Q10 deficiency, primary, 1 Tags
Green Green List (high evidence)	COQ2 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Coenzyme Q10 deficiency, primary, 1, MIM# 607426 MONDO:0011829 Tags
Green Green List (high evidence)	COQ4 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Coenzyme Q10 deficiency, primary, 7, MIM# 616276 Tags treatable
Green Green List (high evidence)	COQ4 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Coenzyme Q10 deficiency, primary, 7, MIM# 616276 Spastic ataxia 10, autosomal recessive, MIM# 620666 Tags treatable
Green Green List (high evidence)	COQ4 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Coenzyme Q10 deficiency, primary, 7, MIM# 616276 Childhood-onset ataxia Tags treatable
Green Green List (high evidence)	COQ4 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Mitochondrial disease, MONDO:0044970 Tags
Green Green List (high evidence)	COQ5 Mitochondrial disease v2.12	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Disease associations Coenzyme Q10 deficiency, primary, 9 MIM#619028 Tags
Green Green List (high evidence)	COQ5 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Expert list Disease associations Coenzyme Q10 deficiency, primary 9, MIM#619028 Tags
Green Green List (high evidence)	COQ5 Ataxia v2.272	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations Coenzyme Q10 deficiency, primary, 9 MIM#619028 Tags
Green Green List (high evidence)	COQ6 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Coenzyme Q10 deficiency, primary, 6 MIM#614650 Tags
Green Green List (high evidence)	COQ7 Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Disease associations Coenzyme Q10 deficiency, primary, 8 MIM#616733 Tags
Green Green List (high evidence)	COQ7 Hereditary Neuropathy v3.0	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neuronopathy, distal hereditary motor, autosomal recessive 9, MIM# 620402 Tags
Green Green List (high evidence)	COQ7 Hereditary Spastic Paraplegia v2.111	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Disease associations Hereditary spastic paraplegia, COQ7-related (MONDO#0019064) Tags
Green Green List (high evidence)	COQ8A Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Coenzyme Q10 deficiency, primary, 4 MIM#612016 Tags
Green Green List (high evidence)	COQ8A Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Coenzyme Q10 deficiency, primary, 4 MIM#612016 Tags treatable
Green Green List (high evidence)	COQ8A Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Coenzyme Q10 deficiency, primary, 4 MIM#612016 Tags treatable
Green Green List (high evidence)	COQ8A Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Disease associations Coenzyme Q10 deficiency, primary, 4 MIM#612016 Tags treatable
Green Green List (high evidence)	COQ8A Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Coenzyme Q10 deficiency, primary, 4, MIM# 612016 Tags treatable
Green Green List (high evidence)	COQ8B Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Nephrotic syndrome, type 9 MIM#615573 Tags
Green Green List (high evidence)	COQ9 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Coenzyme Q10 deficiency, primary, 5, MIM#614654 Tags
Green Green List (high evidence)	COQ9 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Coenzyme Q10 deficiency, primary, 5, MIM#614654 Tags
Green Green List (high evidence)	COX10 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex IV deficiency, nuclear type 3, MIM# 619046 Tags
Green Green List (high evidence)	COX10 Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Mitochondrial Leukoencephalopathy General Leukodystrophy & Mitochondrial Leukoencephalopathy Mitochondrial complex IV disorder Tags
Green Green List (high evidence)	COX11 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Mitochondrial disease (MONDO:0044970), COX11-related Tags
Green Green List (high evidence)	COX11 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Literature Disease associations Mitochondrial disease (MONDO:0044970), COX11-related Tags
Green Green List (high evidence)	COX15 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119 Tags
Green Green List (high evidence)	COX15 Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Mitochondrial Leukoencephalopathy Mitochondrial complex IV disorders Tags
Green Green List (high evidence)	COX18 Mitochondrial disease v2.12	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Mitochondrial complex IV deficiency, nuclear type 25, MIM# 621487 Charcot-Marie-Tooth disease, axonal, type 2MM, MIM# 621488 Tags
Green Green List (high evidence)	COX18 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Mitochondrial complex IV deficiency, nuclear type 25, MIM# 621487 Charcot-Marie-Tooth disease, axonal, type 2MM, MIM# 621488 Tags
Green Green List (high evidence)	COX20 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex IV deficiency, nuclear type 11, MIM#619054 Tags
Green Green List (high evidence)	COX20 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Disease associations Mitochondrial complex IV deficiency, 220110 Mitochondrial complex IV deficiency Tags
Green Green List (high evidence)	COX20 Hereditary Neuropathy v3.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Disease associations Mitochondrial complex IV deficiency, nuclear type 11, MIM#619054 Tags
Green Green List (high evidence)	COX4I1 Mitochondrial disease v2.12	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Mitochondrial complex IV deficiency, nuclear type 16, MIM#619060 regression seizures short stature mild dysmorphic features Fanconi anemia Tags
Green Green List (high evidence)	COX6A1 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Charcot Marie Tooth disease, recessive intermediate D, MIM#616039 MONDO:0014467 Tags
Green Green List (high evidence)	COX6A1 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Charcot Marie Tooth disease, recessive intermediate D, MIM# 616039 MONDO:0014467 Tags
Green Green List (high evidence)	COX6A2 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Mitochondrial complex IV deficiency, nuclear type 18, MIM#619062 Tags
Green Green List (high evidence)	COX6B1 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex IV deficiency, nuclear type 7, MIM# 619051 Tags
Green Green List (high evidence)	COX7B Mitochondrial disease v2.12	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Disease associations Linear skin defects with multiple congenital anomalies 2, MIM#300887 Tags
Green Green List (high evidence)	COXFA4 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex IV deficiency, nuclear type 21, MIM#619065 Leigh syndrome Tags new gene name
Green Green List (high evidence)	CP Early-onset Parkinson disease v3.33	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Aceruloplasminaemia, MIM#604290 Tags
Green Green List (high evidence)	CP Early-onset Dementia v2.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Hemosiderosis, systemic, due to aceruloplasminemia MIM#604290 Tags
Green Green List (high evidence)	CP Neurodegeneration with brain iron accumulation v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources GeneReviews Expert Review Green Disease associations Aceruloplasminemia Tags
Green Green List (high evidence)	CP Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Aceruloplasminaemia, MIM#604290 Tags
Green Green List (high evidence)	CP Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Disease associations Aceruloplasminemia, 604290 Cerebellar ataxia, 604290 Hemosiderosis, systemic, due to aceruloplasminemia, 604290 Tags
Green Green List (high evidence)	CP Metal Metabolism Disorders v1.1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS Genomic Medicine Service Expert Review Green Genomics England PanelApp Disease associations 604290 ACERULOPLASMINEMIA 604290 Hemosiderosis, systemic, due to aceruloplasminemia Tags
Green Green List (high evidence)	CPLANE1 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Joubert syndrome 17, MIM# 614615 Tags
Green Green List (high evidence)	CPLX1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Epileptic encephalopathy, early infantile, 63, MIM# 617976 Tags
Green Green List (high evidence)	CPOX Hereditary Neuropathy v3.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Disease associations Coproporphyria, MIM#121300 Harderoporphyria, MIM#121300 Tags
Green Green List (high evidence)	CPSF3 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with microcephaly, hypotonia, and seizures (NEDMHS), MIM#619876 Tags
Green Green List (high evidence)	CPT1A Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature NHS GMS Disease associations CPT deficiency, hepatic, type IA MIM#255120 Tags treatable
Green Green List (high evidence)	CPT1A Fatty Acid Oxidation Defects v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations CPT deficiency, hepatic, type IA, MIM# 255120 Tags treatable
Green Green List (high evidence)	CPT1A Genetic Epilepsy v2.60	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations CPT deficiency, hepatic, type IA, MIM# 255120 Tags
Green Green List (high evidence)	CPT2 Rhabdomyolysis and Metabolic Myopathy v2.0	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Literature NHS GMS Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations CPT II deficiency, myopathic, stress-induced (exercise intolerance and rhabdomyolysis, late onset) 255110 Tags treatable
Green Green List (high evidence)	CPT2 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations CPT II deficiency, infantile 600649 CPT II deficiency, lethal neonatal 608836 CPT II deficiency, myopathic, stress-induced 255110 Tags
Green Green List (high evidence)	CPT2 Fatty Acid Oxidation Defects v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations CPT II deficiency, infantile 600649 CPT II deficiency, lethal neonatal 608836 CPT II deficiency, myopathic, stress-induced 255110 Tags treatable
Green Green List (high evidence)	CPT2 Mitochondrial disease v2.12	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Disease associations CPT II deficiency, infantile MIM#600649 CPT II deficiency, lethal neonatal MIM#608836 CPT II deficiency, myopathic, stress-induced MIM#255110 Tags treatable
Green Green List (high evidence)	CRADD Genetic Epilepsy v2.60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly, MIM# 614499 Tags
Green Green List (high evidence)	CREBBP Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Menke-Hennekam syndrome 1, MIM# 618332 Tags
Green Green List (high evidence)	CRELD1 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Jeffries-Lakhani neurodevelopmental syndrome, MIM# 620771 Tags
Green Green List (high evidence)	CRLS1 Mitochondrial disease v2.12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Disease associations Combined oxidative phosphorylation deficiency 57, MIM# 620167 Tags
Green Green List (high evidence)	CRPPA Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 614643 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 616052 Tags new gene name
Green Green List (high evidence)	CRPPA Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052 Tags new gene name
Green Green List (high evidence)	CRPPA Genetic Epilepsy v2.60	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM#614643 Tags new gene name
Green Green List (high evidence)	CSF1R Early-onset Dementia v2.14	1 review 1 green	Unknown	Sources Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	CSF1R Early-onset Parkinson disease v3.33	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations leukoencephalopathy, diffuse hereditary, with spheroids 1 MONDO:0800027 Tags
Green Green List (high evidence)	CSF1R Brain Calcification v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Brain abnormalities, neurodegeneration, and dysosteosclerosis, MIM# 618476 BANDDOS Tags
Green Green List (high evidence)	CSF1R Genetic Epilepsy v2.60	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Brain abnormalities, neurodegeneration, and dysosteosclerosis, (MIM#618476) Tags
Green Green List (high evidence)	CSF1R Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Expert Review Green Expert Review Green Literature Disease associations Leukoencephalopathy, diffuse hereditary, with spheroids MIM#221820 ataxia Tags
Green Green List (high evidence)	CSF1R Leukodystrophy v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Disease associations Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 Tags
Green Green List (high evidence)	CSF1R Hereditary Spastic Paraplegia v2.111	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations brain abnormalities, neurodegeneration, and dysosteosclerosis, MONDO:0032772 hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia, MONDO:0009096 Tags
Green Green List (high evidence)	CSGALNACT1 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Congenital disorder of glycosylation Skeletal dysplasia, mild, with joint laxity and advanced bone age, MIM# 618870 Tags
Green Green List (high evidence)	CSMD1 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations complex neurodevelopmental disorder MONDO:0100038 Tags
Green Green List (high evidence)	CSMD1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations complex neurodevelopmental disorder MONDO:0100038 Tags
Green Green List (high evidence)	CSMD3 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Epilepsy, MONDO:0005027, CSMD3-related Tags
Green Green List (high evidence)	CSNK2A1 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Okur-Chung neurodevelopmental syndrome, MIM# 617062 Tags
Green Green List (high evidence)	CSNK2B Genetic Epilepsy v2.60	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Poirier-Bienvenu neurodevelopmental syndrome , MIM#618732 Tags
Green Green List (high evidence)	CSNK2B Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Poirier-Bienvenu neurodevelopmental syndrome , MIM#618732 Tags
Green Green List (high evidence)	CST3 Early-onset Dementia v2.14	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Cerebral amyloid angiopathy MIM#105150 Leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy, MIM#621214 Tags founder
Green Green List (high evidence)	CST3 Leukodystrophy v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Expert Review Green Literature Disease associations Leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy, MIM#621214 Tags
Green Green List (high evidence)	CSTB Genetic Epilepsy v2.60	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) MIM# 254800 Tags 5'UTR STR
Green Green List (high evidence)	CSTB Ataxia v2.272	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM#254800 Tags 5'UTR STR
Green Green List (high evidence)	CSTB_EPM1_CCCCGCCCCGCG STR Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Expert Review Green Literature Disease associations Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) MIM#254800 Tags STR
Green Green List (high evidence)	CSTB_EPM1_CCCCGCCCCGCG STR Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) MIM#254800 Tags
Green Green List (high evidence)	CTBP1 Ataxia v2.272	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert Review Green Expert list Disease associations Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, MIM#617915 Tags
Green Green List (high evidence)	CTC1 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199 Tags
Green Green List (high evidence)	CTC1 Brain Calcification v3.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199 Tags
Green Green List (high evidence)	CTDP1 Hereditary Neuropathy v3.0	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Congenital cataracts, facial dysmorphism, and neuropathy (MIM#604168) Tags deep intronic founder
Green Green List (high evidence)	CTNNA2 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Cortical dysplasia, complex, with other brain malformations 9, MIM#618174 Tags
Green Green List (high evidence)	CTNNB1 Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy, MONDO:0100571 Tags
Green Green List (high evidence)	CTNNB1 Hereditary Spastic Paraplegia v2.111	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy, MONDO:0100571 Neurodevelopmental disorder, MONDO:0700092 Tags
Green Green List (high evidence)	CTNS Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Cystinosis, late-onset juvenile or adolescent nephropathic 219900 Cystinosis, nephropathic 219800 Cystinosis, ocular nonnephropathic 219750 Tags treatable
Green Green List (high evidence)	CTSA Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Galactosialidosis, MIM# 256540 Tags
Green Green List (high evidence)	CTSA Leukodystrophy v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Disease associations Brain small vessel disease 6 with leukoencephalopathy, MIM# 621394 Tags
Green Green List (high evidence)	CTSC Lysosomal Storage Disorder v2.2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations ectodermal dysplasia syndrome MONDO:0019287 Other disorders of complex molecule degradation Tags
Green Green List (high evidence)	CTSC Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Haim-Munk syndrome MIM#245010 Papillon-Lefevre syndrome MIM#245000 other lysosomal disorder Tags
Green Green List (high evidence)	CTSD Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Ceroid lipofuscinosis, neuronal, 10, MIM# 610127 MONDO:0012414 Tags
Green Green List (high evidence)	CTSD Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Ceroid lipofuscinosis, neuronal, 10, MIM# 610127 MONDO:0012414 Tags
Green Green List (high evidence)	CTSF Early-onset Dementia v2.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Ceroid lipofuscinosis, neuronal, 13, Kufs type 615362 Tags
Green Green List (high evidence)	CTSF Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Ceroid lipofuscinosis, neuronal, 13 (Kufs type) MIM#615362 Tags
Green Green List (high evidence)	CTSF Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM# 615362 Tags
Green Green List (high evidence)	CTSK Lysosomal Storage Disorder v2.2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Pycnodysostosis 265800 Tags
Green Green List (high evidence)	CTU2 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, MIM#618142 Tags
Green Green List (high evidence)	CUL1 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, CUL1-related Tags
Green Green List (high evidence)	CUL4B Genetic Epilepsy v2.60	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Disease associations Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354 Tags
Green Green List (high evidence)	CUX2 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Epileptic encephalopathy, early infantile, 67, MIM#618141 Tags
Green Green List (high evidence)	CWF19L1 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Disease associations Spinocerebellar ataxia, autosomal recessive 17, 616127 Autosomal recessive spinocerebellar ataxia type 17, 616127 Tags
Green Green List (high evidence)	CWF19L1 Genetic Epilepsy v2.60	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Spinocerebellar ataxia, autosomal recessive 17, MIM# 616127 Tags
Green Green List (high evidence)	CYC1 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex III deficiency, nuclear type 6 MIM#615453 Tags
Green Green List (high evidence)	CYCS Mitochondrial disease v2.12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Thrombocytopenia 4, MIM#612004 Tags
Green Green List (high evidence)	CYFIP2 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Epileptic encephalopathy, early infantile, 65, MIM#618008 Tags
Green Green List (high evidence)	CYP27A1 Early-onset Parkinson disease v3.33	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Cerebrotendinous xanthomatosis, MIM# 213700 Cerebrotendinous xanthomatosis, infantile-onset diarrhoea, juvenile-onset cataract, young adult-onset tendon xanthomas Epilepsy Parkinsonism Ataxia Peripheral neuropathy Tags
Green Green List (high evidence)	CYP27A1 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Royal Melbourne Hospital Expert Review Green Disease associations Cerebrotendinous xanthomatosis, 213700 Tags
Green Green List (high evidence)	CYP27A1 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Cerebrotendinous xanthomatosis, 213700 Tags
Green Green List (high evidence)	CYP27A1 Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Cerebrotendinous xanthomatosis MIM#213700 Disorders of bile acid biosynthesis Tags
Green Green List (high evidence)	CYP27A1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Cerebrotendinous xanthomatosis MIM#213700 Disorders of bile acid biosynthesis Tags
Green Green List (high evidence)	CYP27A1 Hereditary Spastic Paraplegia v2.111	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Royal Melbourne Hospital Disease associations Cerebrotendinous xanthomatosis, 213700 MONDO:0008948 progressive lower extremity spasticity,often disproportionate to any degree of weakness Tags
Green Green List (high evidence)	CYP27A1 Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Cerebrotendinous xanthomatosis, MIM# 213700 Cholestanol storage disease Dystonia Tags
Green Green List (high evidence)	CYP27A1 Early-onset Dementia v2.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Cerebrotendinous xanthomatosis, MIM# 213700 Tags
Green Green List (high evidence)	CYP27A1 Hereditary Neuropathy v3.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Royal Melbourne Hospital Disease associations Cerebrotendinous xanthomatosis MIM#213700 Tags
Green Green List (high evidence)	CYP2U1 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Spastic paraplegia 56, autosomal recessive, MIM#615030 Tags
Green Green List (high evidence)	CYP2U1 Brain Calcification v3.0	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Spastic paraplegia 56, autosomal recessive, MIM# 615030 Tags
Green Green List (high evidence)	CYP2U1 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Spastic paraplegia 56, autosomal recessive, 615030 Tags
Green Green List (high evidence)	CYP7B1 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Spastic paraplegia 5A, autosomal recessive, MIM# 270800 Tags
Green Green List (high evidence)	CYP7B1 Hereditary Neuropathy v3.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Royal Melbourne Hospital Disease associations Spastic paraplegia 5A, autosomal recessive, MIM# 270800 Tags
Green Green List (high evidence)	CYP7B1 Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Bile acid synthesis defect, congenital, 3 MIM#613812 Spastic paraplegia 5A, autosomal recessive MIM#270800 Disorders of bile acid biosynthesis Tags
Green Green List (high evidence)	CYP7B1 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Spastic paraplegia 5A, autosomal recessive, MIM# 270800 Tags
Green Green List (high evidence)	CYP7B1 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations hereditary spastic paraplegia 5A, MONDO:0010047 Tags
Green Green List (high evidence)	D2HGDH Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations D-2-hydroxyglutaric aciduria MIM#600721 Tags
Green Green List (high evidence)	D2HGDH Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations L2-Hydroxyglutaric aciduria Tags
Green Green List (high evidence)	D2HGDH Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Literature Victorian Clinical Genetics Services Disease associations D-2-hydroxyglutaric aciduria MIM#600721 Tags
Green Green List (high evidence)	DAB1_SCA37_ATTTC STR Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Expert Review Green Literature Disease associations Spinocerebellar ataxia 37 MIM#615945 Tags STR
Green Green List (high evidence)	DAG1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818 Tags
Green Green List (high evidence)	DAGLA Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neuroocular syndrome 2, paroxysmal type, MIM# 168885 Tags
Green Green List (high evidence)	DAGLB Early-onset Parkinson disease v3.33	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Parkinson disease, MONDO:0005180, DALGB-related Tags
Green Green List (high evidence)	DAP3 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Perrault syndrome 7, MIM# 621101 Tags
Green Green List (high evidence)	DARS1 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281 Tags new gene name
Green Green List (high evidence)	DARS1 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281 Tags new gene name
Green Green List (high evidence)	DARS2 Hereditary Neuropathy v3.0	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Charcot-Marie-Tooth disease, axonal, type 2LL, MIM# 621485 Tags
Green Green List (high evidence)	DARS2 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Disease associations Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105 Tags
Green Green List (high evidence)	DARS2 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105 Tags
Green Green List (high evidence)	DARS2 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Disease associations Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 Tags
Green Green List (high evidence)	DARS2 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, MONDO:0012622 Tags
Green Green List (high evidence)	DBH Neurotransmitter Defects v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Dopamine beta-hydroxylase deficiency, MIM#223360 Tags
Green Green List (high evidence)	DBT Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Maple syrup urine disease, type II (MIM#248600) Tags treatable
Green Green List (high evidence)	DCAF17 Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Woodhouse-Sakati syndrome MONDO:0009419 Dystonia Tags
Green Green List (high evidence)	DCAF17 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Woodhouse-Sakati syndrome, MIM# 241080 Tags
Green Green List (high evidence)	DCAF17 Neurodegeneration with brain iron accumulation v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources GeneReviews Expert Review Green Disease associations Woodhouse-Sakati syndrome Tags
Green Green List (high evidence)	DCTN1 Motor Neurone Disease v2.29	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Expert Review Amber Expert Review Green Disease associations Perry syndrome, MONDO:0008201 Tags
Green Green List (high evidence)	DCTN1 Early-onset Dementia v2.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Disease associations Perry syndrome, MONDO:0008201 Tags
Green Green List (high evidence)	DCTN1 Hereditary Neuropathy v3.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Neuronopathy, distal hereditary motor, type 7B, MONDO:0011879 Tags
Green Green List (high evidence)	DCTN1 Early-onset Parkinson disease v3.33	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Perry syndrome, MONDO:0008201 Tags
Green Green List (high evidence)	DCX Genetic Epilepsy v2.60	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Lissencephaly, X-linked, MIM# 300067 Subcortical laminal heterotopia, X-linked 300067 Tags
Green Green List (high evidence)	DDC Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Aromatic L-amino acid decarboxylase deficiency, 608643 Dystonia Tags clinical trial treatable
Green Green List (high evidence)	DDC Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Aromatic L-amino acid decarboxylase deficiency, MIM# 608643 Tags
Green Green List (high evidence)	DDC Neurotransmitter Defects v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Aromatic L-amino acid decarboxylase deficiency, MIM# 608643 Tags clinical trial treatable
Green Green List (high evidence)	DDC Early-onset Parkinson disease v3.33	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Aromatic L-amino acid decarboxylase deficiency, MIM# 608643 Infantile-onset parkinsonism & dystonia Bulbar dysfunction Oculogyric crisis Autonomic dysfunction Intellectual disability Tags
Green Green List (high evidence)	DDHD1 Hereditary Neuropathy v3.0	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Disease associations Hereditary spastic paraplegia 28, MONDO:0012256 Tags
Green Green List (high evidence)	DDHD1 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Hereditary spastic paraplegia 28, MONDO:0012256 Tags
Green Green List (high evidence)	DDHD2 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Spastic paraplegia 54, autosomal recessive, MIM# 615033 MONDO:0014018 Tags
Green Green List (high evidence)	DDHD2 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Disease associations Autosomal recessive paraplegia 54 (#615033). Complex form of disease ataxia reported amongst the phenotypic features in Citterio et al. (2014), Journal of Neurology, 261, pp.373-381 and Doi et al. (2014), Scientific Reports, 4, 7132. Spastic paraplegia 54 Tags
Green Green List (high evidence)	DDOST Congenital Disorders of Glycosylation v2.2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations DDOST-congenital disorder of glycosylation MONDO:0013789 Tags
Green Green List (high evidence)	DDX39B Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder MONDO:0700092, DDX39B-related Tags
Green Green List (high evidence)	DDX3X Genetic Epilepsy v2.60	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type MIM# 300958 Tags
Green Green List (high evidence)	DDX41 Ataxia v2.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Disease associations Inherited retinal dystrophy, MONDO:0019118, DDX41-related Tags preprint
Green Green List (high evidence)	DEAF1 Genetic Epilepsy v2.60	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures 617171 Vulto-van Silfout-de Vries syndrome 615828 Tags
Green Green List (high evidence)	DEGS1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Leukodystrophy hypomyelinating 18, MIM#618404 Tags
Green Green List (high evidence)	DEGS1 Hereditary Neuropathy v3.0	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Tags
Green Green List (high evidence)	DEGS1 Leukodystrophy v1.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Literature Disease associations Leukodystrophy, hypomyelinating, 18 618404 Tags
Green Green List (high evidence)	DEGS1 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations leukodystrophy, hypomyelinating, 18, MONDO:0032730 Tags
Green Green List (high evidence)	DENND2B Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder (MONDO:0700092), DENND2B-related Tags new gene name
Green Green List (high evidence)	DENND5A Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Epileptic encephalopathy, early infantile, 49, MIM# 617281 Tags
Green Green List (high evidence)	DENND5B Leukodystrophy v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Disease associations Neurodevelopmental disorder with white matter anomalies, MONDO:0700092, DENND5B-related Tags
Green Green List (high evidence)	DEPDC5 Genetic Epilepsy v2.60	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Epilepsy, familial focal, with variable foci 1 MIM#604364 Developmental and epileptic encephalopathy 111, MIM# 620504 Tags
Green Green List (high evidence)	DES Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	4 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Myofibrillar myopathy 1, MONDO:0011076 Tags
Green Green List (high evidence)	DGUOK Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880 Portal hypertension, noncirrhotic, 1, MIM# 617068 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, MIM# 617070 Tags
Green Green List (high evidence)	DGUOK Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Disease associations Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880 Portal hypertension, noncirrhotic, 1, MIM# 617068 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, MIM# 617070 Tags
Green Green List (high evidence)	DGUOK Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations General Leukodystrophy & Mitochondrial Leukoencephalopathy Mitochondrial Leukoencephalopathy Mitochondrial DNA depletion syndrome 3 Tags
Green Green List (high evidence)	DGUOK Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Disease associations Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880 Portal hypertension, noncirrhotic, 1, MIM# 617068 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, MIM# 617070 Tags
Green Green List (high evidence)	DHCR24 Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Desmosterolosis, MONDO:0011217 Tags
Green Green List (high evidence)	DHCR24 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Desmosterolosis, MONDO:0011217 Tags
Green Green List (high evidence)	DHCR7 Miscellaneous Metabolic Disorders v2.3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Smith-Lemli-Opitz syndrome MIM#270400 Disorders of sterol biosynthesis Tags
Green Green List (high evidence)	DHDDS Ataxia v2.272	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Developmental delay and seizures with or without movement abnormalities, OMIM:617836 Tags
Green Green List (high evidence)	DHDDS Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type 1bb, MIM# 621567 Tags
Green Green List (high evidence)	DHDDS Genetic Epilepsy v2.60	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Developmental delay and seizures with or without movement abnormalities, MIM#617836 Congenital disorder of glycosylation, MIM#613861 Tags
Green Green List (high evidence)	DHFR Neurotransmitter Defects v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Megaloblastic anemia due to dihydrofolate reductase deficiency, MIM# 613839 Tags
Green Green List (high evidence)	DHH Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome, MONDO:0011766 Tags
Green Green List (high evidence)	DHODH Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Miller syndrome MIM#263750 Disorders of pyrimidine metabolism Tags
Green Green List (high evidence)	DHPS Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Neurodevelopmental disorder with seizures and speech and walking impairment, MIM#618480 Tags
Green Green List (high evidence)	DHRSX Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Congenital disorder of glycosylation, type 1DD, MIM# 301133 Tags
Green Green List (high evidence)	DHRSX Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Congenital disorder of glycosylation, type 1DD, MIM# 301133 Tags
Green Green List (high evidence)	DHTKD1 Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations 2-aminoadipic 2-oxoadipic aciduria MONDO:0008774 Tags
Green Green List (high evidence)	DHX16 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neuromuscular disease and ocular or auditory anomalies with or without seizures, MIM# 618733 Tags
Green Green List (high evidence)	DHX30 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Neurodevelopmental disorder with severe motor impairment and absent language, MIM#617804 Tags
Green Green List (high evidence)	DHX9 Hereditary Neuropathy v3.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature Disease associations Charcot-Marie-Tooth disease, MONDO:0015626, DHX9-related Tags
Green Green List (high evidence)	DIAPH1 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Disease associations Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, MONDO:0014714 Tags
Green Green List (high evidence)	DIP2C Genetic Epilepsy v2.60	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder (MONDO#0700092), DIP2C-related Tags
Green Green List (high evidence)	DLAT Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Pyruvate dehydrogenase E2 deficiency 245348 Dystonia Tags
Green Green List (high evidence)	DLAT Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Pyruvate dehydrogenase E2 deficiency MIM#245348 Tags
Green Green List (high evidence)	DLD Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Dihydrolipoamide dehydrogenase deficiency MIM#246900 Tags
Green Green List (high evidence)	DLG4 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Disease associations Intellectual developmental disorder, autosomal dominant 62 MIM#618793 Tags
Green Green List (high evidence)	DLL1 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Intellectual disability autism seizures variable brain abnormalities scoliosis Tags
Green Green List (high evidence)	DMD Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	3 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Disease associations Duchenne muscular dystrophy 310200 Becker muscular dystrophy 300376 Tags
Green Green List (high evidence)	DMD Rhabdomyolysis and Metabolic Myopathy v2.0	4 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Disease associations Becker muscular dystrophy 300376 Tags
Green Green List (high evidence)	DMPK_DM1_CTG STR Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Myotonic dystrophy 1 MIM#160900 Tags
Green Green List (high evidence)	DMXL2 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Epileptic encephalopathy, early infantile, 81, MIM# 618663 Tags
Green Green List (high evidence)	DNA2 Rhabdomyolysis and Metabolic Myopathy v2.0	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 MIM#615156 Tags
Green Green List (high evidence)	DNA2 Mitochondrial disease v2.12	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Seckel syndrome 8, MIM#615807 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 MIM#615156 Tags
Green Green List (high evidence)	DNAJB2 Hereditary Neuropathy v3.0	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Neuronopathy, distal hereditary motor, autosomal recessive 5 (MIM#614881) Tags
Green Green List (high evidence)	DNAJB2 Motor Neurone Disease v2.29	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Neuronopathy, distal hereditary motor, autosomal recessive 5 (MIM#614881) Tags
Green Green List (high evidence)	DNAJB4 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Expert Review Green Literature Disease associations distal myopathy MONDO:0018949 Myopathy, MONDO:0005336, DNAJB4-related Tags
Green Green List (high evidence)	DNAJB6 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Disease associations Muscular dystrophy, limb-girdle, type 1E, 603511 Tags
Green Green List (high evidence)	DNAJC12 Early-onset Parkinson disease v3.33	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384 Tags
Green Green List (high evidence)	DNAJC12 Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 Tags
Green Green List (high evidence)	DNAJC12 Neurotransmitter Defects v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Hyperphenylalaninemia, mild, non-BH4-deficient, MIM# 617384 Tags
Green Green List (high evidence)	DNAJC19 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations 3-methylglutaconic aciduria, type V MIM#610198 Tags
Green Green List (high evidence)	DNAJC19 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations 3-methylglutaconic aciduria, type V 610198 dilated cardiomyopathy with ataxia (DCMA) syndrome 3-methylglutaconic aciduria type V, 610198 Tags
Green Green List (high evidence)	DNAJC3 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Disease associations juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome, MONDO:0014523 Tags
Green Green List (high evidence)	DNAJC3 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, MIM# 616192 Tags
Green Green List (high evidence)	DNAJC30 Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Leber Hereditary Optic Neuropathy, MIM#619382 Tags
Green Green List (high evidence)	DNAJC5 Early-onset Dementia v2.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Ceroid lipofuscinosis, neuronal, 4 (Kufs type), MONDO:0008083 Tags
Green Green List (high evidence)	DNAJC5 Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Ceroid lipofuscinosis, neuronal, 4 (Kufs type), MONDO:0008083 Tags
Green Green List (high evidence)	DNAJC5 Early-onset Parkinson disease v3.33	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Ceroid lipofuscinosis, neuronal, 4 (Kufs type), MONDO:0008083 Tags
Green Green List (high evidence)	DNAJC5 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green ClinGen Disease associations Ceroid lipofuscinosis, neuronal, 4 (Kufs type), MONDO:0008083 Tags
Green Green List (high evidence)	DNAJC5 Lysosomal Storage Disorder v2.2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Ceroid lipofuscinosis, neuronal, 4 (Kufs type), MONDO:0008083 Tags
Green Green List (high evidence)	DNAJC6 Early-onset Parkinson disease v3.33	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Parkinson disease 19a, juvenile-onset - MIM#615528 Parkinson disease 19b, early-onset - MIM#615528 Tags
Green Green List (high evidence)	DNAJC7 Motor Neurone Disease v2.29	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations amyotrophic lateral sclerosis Tags
Green Green List (high evidence)	DNM1 Genetic Epilepsy v2.60	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Literature Expert Review Green Disease associations Developmental and epileptic encephalopathy 31A, autosomal dominant, MIM# 616346 Developmental and epileptic encephalopathy 31B, autosomal recessive, MIM# 620352 Tags
Green Green List (high evidence)	DNM1L Peroxisomal Disorders v1.8	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources ClinGen Literature Expert Review Green Disease associations Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MONDO:0013726 Tags
Green Green List (high evidence)	DNM1L Mitochondrial disease v2.12	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature ClinGen Disease associations Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MONDO:0013726 Tags
Green Green List (high evidence)	DNM1L Genetic Epilepsy v2.60	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Literature ClinGen Expert Review Green Disease associations Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MONDO:0013726 Tags
Green Green List (high evidence)	DNM1L Hereditary Neuropathy v3.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations encephalopathy due to mitochondrial and peroxisomal fission defect, MONDO:0054865 Tags
Green Green List (high evidence)	DNM1L Hereditary Spastic Paraplegia v2.111	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Mitochondrial disease, MONDO:0044970 encephalopathy due to mitochondrial and peroxisomal fission defect, MONDO:0054865 Tags
Green Green List (high evidence)	DNM1L Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations encephalopathy due to mitochondrial and peroxisomal fission defect, MONDO:0054865 Tags
Green Green List (high evidence)	DNM2 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Disease associations autosomal dominant centronuclear myopathy MONDO:0008048 Tags
Green Green List (high evidence)	DNM2 Mitochondrial disease v2.12	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Centronuclear myopathy 1 160150 AD 3 Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482 Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482 Lethal congenital contracture syndrome 5, MIM# 615368 Tags
Green Green List (high evidence)	DNM2 Hereditary Neuropathy v3.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Disease associations Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482 Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482 MONDO:0011674 Tags
Green Green List (high evidence)	DNMT1 Ataxia v2.272	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green ClinGen Literature Disease associations Hereditary sensory neuropathy-deafness-dementia syndrome, MONDO:0013584 Tags
Green Green List (high evidence)	DNMT1 Early-onset Dementia v2.14	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Green Disease associations Hereditary sensory neuropathy-deafness-dementia syndrome, MONDO:0013584 Tags
Green Green List (high evidence)	DNMT1 Hereditary Neuropathy v3.0	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Literature Disease associations Hereditary sensory neuropathy-deafness-dementia syndrome, MONDO:0013584 Tags
Green Green List (high evidence)	DOCK3 Ataxia v2.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, MIM#618292 Tags
Green Green List (high evidence)	DOCK6 Brain Calcification v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Adams-Oliver syndrome 2 MIM#614219 Tags
Green Green List (high evidence)	DOCK7 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Developmental and epileptic encephalopathy 23 MIM#615859 MONDO:0014371 Tags
Green Green List (high evidence)	DOHH Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, DOHH-related (MONDO#0700092) Tags
Green Green List (high evidence)	DOK7 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	4 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Victorian Clinical Genetics Services Disease associations Myasthenic syndrome, congenital, 10 254300 Tags
Green Green List (high evidence)	DOLK Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Congenital disorder of glycosylation type Im, 610768 Tags
Green Green List (high evidence)	DOLK Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations DK1-CDG, MONDO:0012556 Congenital disorder of glycosylation, type Im, MIM# 610768 Tags
Green Green List (high evidence)	DOP1A Genetic Epilepsy v2.60	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, DOP1A-related Tags
Green Green List (high evidence)	DPAGT1 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type Ij, MIM# 608093 DPAGT1-CDG MONDO:0011964 Tags
Green Green List (high evidence)	DPAGT1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Congenital disorder of glycosylation, type Ij, MIM# 608093 DPAGT1-CDG MONDO:0011964 Tags
Green Green List (high evidence)	DPM1 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type Ie, MIM# 608799 Tags
Green Green List (high evidence)	DPM1 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Congenital disorder of glycosylation, type Ie, 608799 Tags
Green Green List (high evidence)	DPM2 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type Iu, MIM#615042 Tags
Green Green List (high evidence)	DPM3 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Disease associations Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 MIM#612937 Tags
Green Green List (high evidence)	DPM3 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 , MIM#612937 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 618992 Tags
Green Green List (high evidence)	DPYD Genetic Epilepsy v2.60	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Dihydropyrimidine dehydrogenase deficiency, MIM# 274270 Tags SV/CNV
Green Green List (high evidence)	DPYD Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Dihydropyrimidine dehydrogenase deficiency 274270 5-fluorouracil toxicity 274270 Tags
Green Green List (high evidence)	DPYD Miscellaneous Metabolic Disorders v2.3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Dihydropyrimidine dehydrogenase deficiency MIM#274270 5-fluorouracil toxicity MIM#274270 Disorders of pyrimidine metabolism Tags pharmacogenomic
Green Green List (high evidence)	DPYS Miscellaneous Metabolic Disorders v2.3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Disease associations Dihydropyrimidinuria MIM#222748 Disorders of pyrimidine metabolism Tags
Green Green List (high evidence)	DRD1 Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, DRD1-related Tags
Green Green List (high evidence)	DRD2 Dystonia and Chorea v1.13	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature Disease associations Combined dystonia, MONDO:0020065, DRD2-related dystonia chorea anxiety ataxia orofacial dyskinesia tremor memory problems Tags
Green Green List (high evidence)	DRP2 Hereditary Neuropathy v3.0	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Disease associations Peripheral neuropathy, MONDO:0005244, DRP2-related Tags
Green Green List (high evidence)	DSCAM Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder (MONDO:0700092), DSCAM-related Tags
Green Green List (high evidence)	DST Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Royal Melbourne Hospital Literature Disease associations Neuropathy, hereditary sensory and autonomic, type VI, MIM# 614653 MONDO:0013839 Tags
Green Green List (high evidence)	DST Pain syndromes v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Disease associations Neuropathy, hereditary sensory and autonomic, type VI MIM#614653 Tags
Green Green List (high evidence)	DTNA Rhabdomyolysis and Metabolic Myopathy v2.0	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Muscular dystrophy, MONDO:0020121, DTNA-related Tags
Green Green List (high evidence)	DYNC1H1 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Cortical dysplasia, complex, with other brain malformations 13, MIM# 614563 Tags
Green Green List (high evidence)	DYNC1H1 Hereditary Neuropathy v3.0	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Disease associations Charcot-Marie-Tooth disease, axonal, type 20, MIM# 614228 Tags
Green Green List (high evidence)	DYRK1A Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Mental retardation, autosomal dominant 7, MIM# 614104 MONDO:0013578 Tags SV/CNV
Green Green List (high evidence)	DYRK1A Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations DYRK1A-related intellectual disability syndrome, MONDO:0013578 Tags
Green Green List (high evidence)	DYSF Rhabdomyolysis and Metabolic Myopathy v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Muscular dystrophy, limb-girdle, type 2B 253601 Myopathy, distal, with anterior tibial onset 606768 Miyoshi muscular dystrophy 1 254130 Tags
Green Green List (high evidence)	DYSF Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Myopathy, distal, with anterior tibial onset, 606768 Miyoshi muscular dystrophy 1, 254130 Muscular dystrophy, limb-girdle, type 2B, 253601 Tags
Green Green List (high evidence)	EARS2 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Leigh syndrome MONDO:0009723 Combined oxidative phosphorylation deficiency 12 MIM#614924 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome MONDO:0013971 Tags
Green Green List (high evidence)	EARS2 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Combined oxidative phosphorylation deficiency 12, MIM# 614924 Leukoencephalopathy with thalamus and brainstem involvement and high lactate Tags
Green Green List (high evidence)	EARS2 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Leigh syndrome MONDO:0009723 Combined oxidative phosphorylation deficiency 12 MIM#614924 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome MONDO:0013971 Tags
Green Green List (high evidence)	EBF3 Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Royal Melbourne Hospital Expert Review Green Disease associations Hypotonia, ataxia and delayed development syndrome, 617330 Tags
Green Green List (high evidence)	ECHS1 Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277 Tags
Green Green List (high evidence)	ECHS1 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Leigh syndrome MONDO:0009723 Tags
Green Green List (high evidence)	ECHS1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277 Tags
Green Green List (high evidence)	ECHS1 Fatty Acid Oxidation Defects v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277 Tags
Green Green List (high evidence)	ECM1 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Urbach-Wiethe disease, MIM# 247100 Tags
Green Green List (high evidence)	ECM1 Brain Calcification v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Urbach-Wiethe disease, MIM# 247100 Tags
Green Green List (high evidence)	EDEM3 Congenital Disorders of Glycosylation v2.2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Congenital disorder of glycosylation, type 2V, MIM# 619493 Tags
Green Green List (high evidence)	EEF1A2 Genetic Epilepsy v2.60	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Mental retardation, autosomal dominant 38, MIM# 616393 MONDO:0014617 Developmental and epileptic encephalopathy 33, MIM# 616409 MONDO:0014625 Tags
Green Green List (high evidence)	EEF1B2 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Disease associations Neurodevelopmental disorder MONDO:0700092 non-syndromic ID and seizures Tags
Green Green List (high evidence)	EEFSEC Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with progressive spasticity and brain abnormalities, MIM#621102 Tags
Green Green List (high evidence)	EEFSEC Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with progressive spasticity and brain abnormalities, MIM#621102 Tags
Green Green List (high evidence)	EEFSEC Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder with progressive spasticity and brain abnormalities, MONDO:0976233 Tags
Green Green List (high evidence)	EFTUD2 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Mandibulofacial dysostosis, Guion-Almeida type, MIM#610536 Tags
Green Green List (high evidence)	EGR2 Hereditary Neuropathy v3.0	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Charcot-Marie-Tooth disease, type 1D 607678 AD Dejerine-Sottas disease 145900 AD, AR Hypomyelinating neuropathy, congenital, 1 605253 AD, AR Tags
Green Green List (high evidence)	EHMT1 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Kleefstra syndrome 1, MIM# 610253 MONDO:0027407 Tags SV/CNV
Green Green List (high evidence)	EIF2AK2 Early-onset Parkinson disease v3.33	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, MIM# 618877 Neurodevelopmental Syndrome Developmental delays Ataxia Parkinsonism White matter alterations Tags
Green Green List (high evidence)	EIF2AK2 Dystonia and Chorea v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Disease associations Intellectual disability white matter abnormalities ataxia regression with febrile illness early onset dystonia Tags
Green Green List (high evidence)	EIF2AK2 Leukodystrophy v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Disease associations Intellectual disability white matter abnormalities ataxia regression with febrile illness Tags
Green Green List (high evidence)	EIF2AK2 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, MIM# 618877 Tags
Green Green List (high evidence)	EIF2AK2 Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, MONDO:0030035 Tags
Green Green List (high evidence)	EIF2B1 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Leukoencephalopathy with vanishing white matter, MIM# 603896 Tags
Green Green List (high evidence)	EIF2B1 Genetic Epilepsy v2.60	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Leukoencephalopathy with vanishing white matter MIM#603896 Neonatal diabetes mellitus, MONDO:0016391, EIF2B1-related Tags
Green Green List (high evidence)	EIF2B1 Ataxia v2.272	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations Leukoencephalopathy with vanishing white matter MIM#603896 Tags
Green Green List (high evidence)	EIF2B2 Ataxia v2.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations Leukoencephalopathy with vanishing white matter MIM#603896 Tags
Green Green List (high evidence)	EIF2B2 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Leukoencephalopathy with vanishing white matter, MIM#603896 Ovarioleukodystrophy, MIM# 603896 Tags
Green Green List (high evidence)	EIF2B2 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Leukoencephalopathy with vanishing white matter, MIM# 603896 Tags
Green Green List (high evidence)	EIF2B3 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations leukoencephalopathy with vanishing white matter MONDO:0011380 Tags
Green Green List (high evidence)	EIF2B3 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Leukoencephalopathy with vanishing white matter, MIM# 603896 Tags
Green Green List (high evidence)	EIF2B3 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Leukoencephalopathy with vanishing white matter MIM#603896 Tags
Green Green List (high evidence)	EIF2B4 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Leukoencephalopathy with vanishing white matter, MIM# 603896 Tags
Green Green List (high evidence)	EIF2B4 Genetic Epilepsy v2.60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations leukoencephalopathy with vanishing white matter MONDO:0011380 Tags
Green Green List (high evidence)	EIF2B4 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Leukoencephalopathy with vanishing white matter MIM#603896 Tags
Green Green List (high evidence)	EIF2B5 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Leukoencephalopathy with vanishing white matter, MIM# 603896 Tags
Green Green List (high evidence)	EIF2B5 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations leukoencephalopathy with vanishing white matter MONDO:0011380 Tags
Green Green List (high evidence)	EIF2B5 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Leukoencephalopathy with vanishing white matter MIM#603896 Tags
Green Green List (high evidence)	EIF2S3 Genetic Epilepsy v2.60	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations MEHMO syndrome MIM# 300148 Tags
Green Green List (high evidence)	EIF3F Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Mental retardation, autosomal recessive 67, MIM# 618295 Tags
Green Green List (high evidence)	EIF4A2 Genetic Epilepsy v2.60	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures, MIM# 620455 Tags
Green Green List (high evidence)	EIF4A2 Dystonia and Chorea v1.13	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures, MIM# 620455 Tags
Green Green List (high evidence)	EIPR1 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092 Tags
Green Green List (high evidence)	EIPR1 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092 Tags
Green Green List (high evidence)	ELAC2 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Combined oxidative phosphorylation deficiency 17, MIM#615440 Tags
Green Green List (high evidence)	ELAVL2 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, ELAVL2-related Tags
Green Green List (high evidence)	ELFN1 Ataxia v2.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Dursun-Ozgul neurodevelopmental syndrome, MIM# 621344 Tags
Green Green List (high evidence)	ELFN1 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Dursun-Ozgul neurodevelopmental syndrome, MIM# 621344 Tags
Green Green List (high evidence)	ELOVL1 Leukodystrophy v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, MIM# 618527 Tags
Green Green List (high evidence)	ELOVL1 Hereditary Spastic Paraplegia v2.111	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, MIM# 618527 Tags
Green Green List (high evidence)	ELOVL4 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Disease associations Ichthyosis, spastic quadriplegia, and mental retardation (MIM#614457) Tags
Green Green List (high evidence)	ELOVL4 Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Expert Review Green Royal Melbourne Hospital Expert Review Green Disease associations Spinocerebellar ataxia 34 133190 Spinocerebellar ataxia 34, 133190 Tags
Green Green List (high evidence)	ELOVL4 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome, MONDO:0013760 Tags
Green Green List (high evidence)	ELOVL5 Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Disease associations Spinocerebellar ataxia 38, MIM#615957 Tags
Green Green List (high evidence)	ELP1 Pain syndromes v1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Disease associations Familial dysautonomia NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III Dysautonomia, familial, 223900 Tags
Green Green List (high evidence)	ELP1 Hereditary Neuropathy v3.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Royal Melbourne Hospital Disease associations Dysautonomia, familial, MIM# 223900 Riley-Day syndrome MONDO:0009131 Tags
Green Green List (high evidence)	EMC1 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Disease associations Neurodevelopmental disorder, MONDO:0700092, EMC1-related Tags
Green Green List (high evidence)	EMC10 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with dysmorphic facies and variable seizures, MIM# 619264 Tags founder
Green Green List (high evidence)	EMD Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert list Royal Melbourne Hospital Disease associations Emery-Dreifuss muscular dystrophy 1, X-linked 310300 Tags
Green Green List (high evidence)	EML1 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Band heterotopia (MIM# 600348) Tags
Green Green List (high evidence)	ENG Cerebral vascular malformations v2.0	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Expert Review Green Disease associations Telangiectasia, hereditary hemorrhagic, type 1 187300 Tags
Green Green List (high evidence)	ENO3 Rhabdomyolysis and Metabolic Myopathy v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Disease associations Glycogen storage disease XIII 612932 Tags
Green Green List (high evidence)	ENO3 Glycogen Storage Diseases v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Glycogen storage disease XIII, MIM#612932 Tags
Green Green List (high evidence)	ENTPD1 Hereditary Spastic Paraplegia v2.111	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Spastic paraplegia 64, autosomal recessive MIM#615683 Tags
Green Green List (high evidence)	ENTPD1 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Spastic paraplegia 64, autosomal recessive, MIM# 615683 Tags
Green Green List (high evidence)	EOGT Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Adams-Oliver syndrome 4 (MIM #615297) scalp aplasia cutis congenita transverse terminal limb defects Tags
Green Green List (high evidence)	EP400 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder with or without early-onset generalized epilepsy - MONDO:0030930 Tags
Green Green List (high evidence)	EPB41L3 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities MONDO:0030063 Tags
Green Green List (high evidence)	EPG5 Miscellaneous Metabolic Disorders v2.3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Disease associations Vici syndrome MIM#242840 Congenital disorders of autophagy Tags
Green Green List (high evidence)	EPG5 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Vici syndrome, MIM# 242840 Tags
Green Green List (high evidence)	EPG5 Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with parkinsonism or other movement abnormalities, MIM# 621506 Tags
Green Green List (high evidence)	EPG5 Early-onset Parkinson disease v3.33	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder with parkinsonism or other movement abnormalities MONDO:0980990 Tags
Green Green List (high evidence)	EPG5 Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations Disorders of autophagy Vici syndrome MONDO:0009452 Neurodevelopmental disorder with parkinsonism or other movement abnormalities, MIM# 621506 Tags
Green Green List (high evidence)	EPHB4 Cerebral vascular malformations v2.0	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Disease associations Capillary malformation-arteriovenous malformation 2, 618196 Tags
Green Green List (high evidence)	EPM2A Glycogen Storage Diseases v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Epilepsy, progressive myoclonic 2A (Lafora), MIM# 254780 Tags
Green Green List (high evidence)	EPM2A Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Disease associations Progressive myoclonic epilepsy 2A, Lafora, 254780 Epilepsy, progressive myoclonic 2A (Lafora) 254780 Tags
Green Green List (high evidence)	EPM2A Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Lafora disease MONDO:0009697 Tags
Green Green List (high evidence)	EPM2A Early-onset Dementia v2.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Epilepsy, progressive myoclonic 2A (Lafora) MIM#254780 Tags
Green Green List (high evidence)	EPRS1 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Leukodystrophy, hypomyelinating, 15, MIM# 617951 Tags
Green Green List (high evidence)	ERBB3 Hereditary Neuropathy v3.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Visceral neuropathy, familial, 1, autosomal recessive, MIM# 243180 Complex neurocristinopathy Tags
Green Green List (high evidence)	ERBB4 Motor Neurone Disease v2.29	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations Amyotrophic lateral sclerosis 19 MIM#615515 Tags
Green Green List (high evidence)	ERCC4 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert Review Green Expert list Disease associations Cerebellar ataxia Xeroderma pigmentosum, group F, MIM# 278760 Tags
Green Green List (high evidence)	ERCC4 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations ERCC4-related neuropathy MONDO:0100545 Tags
Green Green List (high evidence)	ERCC6 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Cockayne syndrome type 2, MONDO:0019570 Tags
Green Green List (high evidence)	ERCC6 Hereditary Neuropathy v3.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Cockayne syndrome, type B MIM#133540 Tags
Green Green List (high evidence)	ERCC6 Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Cockayne syndrome UV-sensitive syndrome General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	ERCC6 Brain Calcification v3.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Cockayne syndrome, type B, MIM#133540 Tags
Green Green List (high evidence)	ERCC8 Brain Calcification v3.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Cockayne syndrome, type A, MIM# 216400 Tags
Green Green List (high evidence)	ERCC8 Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Cockayne Syndrome UV-sensitive syndrome General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	ERCC8 Hereditary Neuropathy v3.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Cockayne syndrome, type A MIM#216400 Tags
Green Green List (high evidence)	ERLIN1 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Spastic paraplegia 62, 615681 Hereditary spastic paraplegia Tags
Green Green List (high evidence)	ERLIN2 Motor Neurone Disease v2.29	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations hereditary spastic paraplegia 18 MONDO:0012639 Tags
Green Green List (high evidence)	ERLIN2 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Spastic paraplegia 18, autosomal recessive, MIM# 611225 Spastic paraplegia 18A, autosomal dominant, MIM# 620512 Tags
Green Green List (high evidence)	ESAM Brain Calcification v3.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with intracranial haemorrhage, seizures, and spasticity, MIM# 620371 Tags
Green Green List (high evidence)	ESAM Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with intracranial haemorrhage, seizures, and spasticity, MIM# 620371 Tags
Green Green List (high evidence)	ESAM Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity, MONDO:0957267 Tags
Green Green List (high evidence)	ESRRG Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature Disease associations Movement disorder, congenital nonprogressive, with ataxia and eye movement abnormalities, MIM# 621639 Tags
Green Green List (high evidence)	ETFA Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Glutaric acidemia IIA MIM#231680 Multiple acyl-CoA dehydrogenase deficiency (MADD) Tags treatable
Green Green List (high evidence)	ETFA Fatty Acid Oxidation Defects v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Glutaric acidemia IIA, MIM# 231680 Tags treatable
Green Green List (high evidence)	ETFA Rhabdomyolysis and Metabolic Myopathy v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Disease associations Glutaric acidemia IIA 231680 Tags treatable
Green Green List (high evidence)	ETFB Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Glutaric acidemia IIB MIM#231680 Multiple acyl-CoA dehydrogenase deficiency (MADD) Tags treatable
Green Green List (high evidence)	ETFB Fatty Acid Oxidation Defects v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Glutaric acidemia IIB, MIM# 231680 Tags treatable
Green Green List (high evidence)	ETFDH Rhabdomyolysis and Metabolic Myopathy v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Disease associations Glutaric acidemia IIC 231680 Tags treatable
Green Green List (high evidence)	ETFDH Fatty Acid Oxidation Defects v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Glutaric acidemia IIC, MIM# 231680 Tags treatable
Green Green List (high evidence)	ETFDH Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Mitochondrial Leukoencephalopathy Glutaric Acidemia IIC Tags treatable
Green Green List (high evidence)	ETFDH Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Multiple acyl-CoA dehydrogenase deficiency MONDO:0009282 sensory neuropathy Tags treatable
Green Green List (high evidence)	ETFDH Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Glutaric acidemia IIC MIM#231680 Multiple acyl-CoA dehydrogenase deficiency (MADD) Tags treatable
Green Green List (high evidence)	ETHE1 Fatty Acid Oxidation Defects v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Ethylmalonic encephalopathy, MIM# 602473 Tags treatable
Green Green List (high evidence)	ETHE1 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Ethylmalonic encephalopathy , MIM#602473 Tags treatable
Green Green List (high evidence)	ETHE1 Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Disease associations Ethylmalonic encephalopathy , MIM#602473 Tags treatable
Green Green List (high evidence)	EXOC7 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Literature Disease associations brain atrophy seizures developmental delay microcephaly Tags
Green Green List (high evidence)	EXOSC3 Genetic Epilepsy v2.60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Pontocerebellar hypoplasia, type 1B, MIM# 614678 Tags
Green Green List (high evidence)	EXOSC3 Ataxia v2.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations Pontocerebellar hypoplasia, type 1B, 614678 Tags
Green Green List (high evidence)	EXOSC5 Ataxia v2.272	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, MIM# 619576 Short stature Motor developmental delays Cerebellar hypoplasia Ataxia Tags
Green Green List (high evidence)	EXOSC8 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations dHMN/dSMA Pontocerebellar hypoplasia, type 1c, MIM# 616081 Tags
Green Green List (high evidence)	EXOSC9 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Pontocerebellar hypoplasia, type 1D, MIM# 618065 Tags
Green Green List (high evidence)	EXT1 Congenital Disorders of Glycosylation v2.2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Exostoses, multiple, type 1 133700 Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies) Tags
Green Green List (high evidence)	EXT2 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Seizures, scoliosis, and macrocephaly syndrome 616682 Exostoses, multiple, type 2 133701 Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies) Tags
Green Green List (high evidence)	EXT2 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Seizures, scoliosis, and macrocephaly syndrome, MIM#616682 Tags
Green Green List (high evidence)	EXTL3 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425 Tags
Green Green List (high evidence)	FA2H Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Spastic paraplegia 35, autosomal recessive, MIM#612319 Tags
Green Green List (high evidence)	FA2H Neurodegeneration with brain iron accumulation v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources GeneReviews Expert Review Green Disease associations Fatty acid hydroxylase-associated neurodegeneration (FAHN) Tags
Green Green List (high evidence)	FA2H Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Dystonia Spastic paraplegia 35, autosomal recessive 612319 fatty acid hydroxylase-associated neurodegeneration Tags
Green Green List (high evidence)	FA2H Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Spastic paraplegia 35, autosomal recessive MIM#612319 Tags
Green Green List (high evidence)	FA2H Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Spastic paraplegia 35, autosomal recessive, MIM# 612319 Tags
Green Green List (high evidence)	FA2H Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Spastic paraplegia 35, autosomal recessive, MIM#611026 Tags
Green Green List (high evidence)	FAH Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Tyrosinemia, type I, MIM# 276700 Tags treatable
Green Green List (high evidence)	FAM111A Brain Calcification v3.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Kenny-Caffey syndrome, type 2, MIM# 127000 Tags
Green Green List (high evidence)	FAM149B1 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Joubert syndrome 36, MONDO:0032902 Tags
Green Green List (high evidence)	FAM20C Brain Calcification v3.0	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Raine syndrome, MIM# 259775 Tags
Green Green List (high evidence)	FAR1 Hereditary Spastic Paraplegia v2.111	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Cataracts, spastic paraparesis, and speech delay, MIM#619338 Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM# 616154 Tags
Green Green List (high evidence)	FAR1 Peroxisomal Disorders v1.8	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Peroxisomal fatty acyl-CoA reductase 1 disorder (MIM#616154) Cataracts, spastic paraparesis, and speech delay, MIM#619338 Tags
Green Green List (high evidence)	FARS2 Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations combined oxidative phosphorylation defect type 14 MONDO:0013986 hereditary spastic paraplegia 77 MONDO:0014882 Tags
Green Green List (high evidence)	FARS2 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations combined oxidative phosphorylation defect type 14 MONDO:0013986 Tags
Green Green List (high evidence)	FARS2 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Spastic paraplegia 77, autosomal recessive, 617046 Tags
Green Green List (high evidence)	FARSA Brain Calcification v3.0	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Rajab interstitial lung disease with brain calcifications 2, MIM# 619013 Tags
Green Green List (high evidence)	FARSB Brain Calcification v3.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Rajab syndrome, MIM#613658 interstitial lung disease brain calcifications microcephaly intellectual disability Tags
Green Green List (high evidence)	FASTKD2 Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Disease associations Combined oxidative phosphorylation deficiency 44 (MIM#618855) Tags
Green Green List (high evidence)	FASTKD2 Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Combined oxidative phosphorylation deficiency 44, MIM# 618855 FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632 Tags
Green Green List (high evidence)	FASTKD2 Genetic Epilepsy v2.60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Mitochondrial complex IV deficiency, MIM#220110 Tags
Green Green List (high evidence)	FASTKD5 Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Mitochondrial complex IV deficiency, nuclear type 24, MIM# 621431 Tags
Green Green List (high evidence)	FAT2 Ataxia v2.272	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources GeneReviews Royal Melbourne Hospital Expert list Expert list Expert Review Green Expert Review Green Expert Review Green Expert Review Green Expert list Expert list Royal Melbourne Hospital GeneReviews Disease associations Spinocerebellar ataxia 45, MIM#617769 Tags
Green Green List (high evidence)	FBLN5 Hereditary Neuropathy v3.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Royal Melbourne Hospital Disease associations Neuropathy, hereditary, with or without age-related macular degeneration, MIM#608895 Tags
Green Green List (high evidence)	FBP1 Glycogen Storage Diseases v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Fructose-1,6-bisphosphatase deficiency, MIM# 229700 Tags
Green Green List (high evidence)	FBXL4 Ataxia v2.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), MIM# 615471 Tags
Green Green List (high evidence)	FBXL4 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471 Tags
Green Green List (high evidence)	FBXL4 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471 Tags
Green Green List (high evidence)	FBXO11 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, 618089 Tags
Green Green List (high evidence)	FBXO28 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Developmental and epileptic encephalopathy 100, MIM# 619777 Tags
Green Green List (high evidence)	FBXO28 Dystonia and Chorea v1.13	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Developmental and epileptic encephalopathy 100, MIM# 619777 Tags
Green Green List (high evidence)	FBXO31 Hereditary Spastic Paraplegia v2.111	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations cerebral palsy, MONDO:0006497 Tags
Green Green List (high evidence)	FBXO31 Dystonia and Chorea v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations cerebral palsy, MONDO:0006497 Tags
Green Green List (high evidence)	FBXO7 Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations parkinsonian-pyramidal syndrome, MONDO:0009830 Tags
Green Green List (high evidence)	FBXO7 Early-onset Parkinson disease v3.33	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations parkinsonian-pyramidal syndrome MONDO:0009830 Tags
Green Green List (high evidence)	FBXO7 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Royal Melbourne Hospital Disease associations Parkinson disease 15, autosomal recessive MIM#260300 Tags
Green Green List (high evidence)	FCSK Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Congenital disorder of glycosylation with defective fucosylation 2, MIM# 618324 Tags
Green Green List (high evidence)	FCSK Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Congenital disorder of glycosylation with defective fucosylation 2, MIM# 618324 Tags
Green Green List (high evidence)	FDFT1 Genetic Epilepsy v2.60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Squalene synthase deficiency, MIM# 618156 Tags
Green Green List (high evidence)	FDFT1 Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations squalene synthase deficiency MONDO:0032566 Tags
Green Green List (high evidence)	FDX2 Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MIM#251900 Tags
Green Green List (high evidence)	FDX2 Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, MIM# 251900 inborn mitochondrial myopathy MONDO:0009637 Tags
Green Green List (high evidence)	FDXR Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887 Tags
Green Green List (high evidence)	FDXR Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Auditory neuropathy and optic atrophy, MIM#617717 Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887 Tags
Green Green List (high evidence)	FDXR Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome, MONDO:0034092 Tags
Green Green List (high evidence)	FGD4 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Charcot Marie Tooth disease, type 4H, 609311 MONDO:0012250 Tags
Green Green List (high evidence)	FGF12 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Developmental and epileptic encephalopathy 47, MIM# 617166 Tags
Green Green List (high evidence)	FGF13 Genetic Epilepsy v2.60	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations Developmental and epileptic encephalopathy 90, MIM# 301058 Intellectual disability epilepsy Tags
Green Green List (high evidence)	FGF14 Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Spinocerebellar ataxia 27 MIM#609307 Tags
Green Green List (high evidence)	FGF14_SCA27B_GAA STR Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Expert Review Green Literature Disease associations Spinocerebellar ataxia type 27B MONDO:0012247 Spinocerebellar ataxia 50 late-onset cerebellar ataxias (LOCAs) Tags
Green Green List (high evidence)	FGFR1 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Hartsfield syndrome (MIM#615465) Tags
Green Green List (high evidence)	FGFR3 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Hypochondroplasia, MIM#146000 Tags
Green Green List (high evidence)	FH Mitochondrial disease v2.12	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations hereditary leiomyomatosis and renal cell cancer MONDO:0007888 fumaric aciduria MONDO:0011730 Tags
Green Green List (high evidence)	FH Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Fumarase deficiency, MIM#606812 Tags
Green Green List (high evidence)	FHL1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	3 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert list Expert Review Green Expert list Royal Melbourne Hospital Disease associations Reducing body myopathy MONDO:0019948 X-linked Emery-Dreifuss muscular dystrophy MONDO:0010680 Tags
Green Green List (high evidence)	FICD Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Disease associations Spastic paraplegia 92, autosomal recessive, MIM# 620911 Tags
Green Green List (high evidence)	FICD Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Spastic paraplegia 92, autosomal recessive, MIM# 620911 Tags
Green Green List (high evidence)	FIG4 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Charcot-Marie-Tooth disease, type 4J, MIM# 611228 MONDO:0012640 HMSN Tags
Green Green List (high evidence)	FIG4 Early-onset Parkinson disease v3.33	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Charcot-Marie-Tooth disease type 4J, MONDO:0012640 Tags
Green Green List (high evidence)	FIG4 Leukodystrophy v1.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Literature Disease associations Charcot-Marie-Tooth disease, type 4J 611228 Yunis-Varon syndrome 216340 leukoencephalopathy Tags
Green Green List (high evidence)	FITM2 Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Siddiqi syndrome MIM#618635 dystonia deafness Tags
Green Green List (high evidence)	FKRP Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Disease associations Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155 Tags
Green Green List (high evidence)	FKRP Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153 Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155 Tags
Green Green List (high evidence)	FKRP Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Disease associations Limb-girdle muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Tags
Green Green List (high evidence)	FKTN Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800 Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588 Tags
Green Green List (high evidence)	FKTN Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Muscular dystrophy-dystroglycanopathy (with brain and eye anomalies), 253800 Muscular dystrophy-dystroglycanopathy (without mental retardation), 613152 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588 Cardiomyopathy, dilated, 1X, 611615 Tags
Green Green List (high evidence)	FKTN Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Muscular dystrophy-dystroglycanopathy MONDO:0018276 Tags
Green Green List (high evidence)	FLAD1 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MIM#255100 Tags
Green Green List (high evidence)	FLAD1 Fatty Acid Oxidation Defects v2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, MIM# 255100 Tags
Green Green List (high evidence)	FLAD1 Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Disease associations Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MIM#255100 Tags
Green Green List (high evidence)	FLNA Genetic Epilepsy v2.60	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Heterotopia, periventricular, 1, MIM# 300049 Tags
Green Green List (high evidence)	FLNC Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Expert list Disease associations Cardiomyopathy, familial restrictive 5 617047 Myopathy, distal, 4 614065 Myopathy, myofibrillar, 5 609524 Tags
Green Green List (high evidence)	FLVCR1 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Ataxia, posterior column, with retinitis pigmentosa, MIM# 609033 Tags
Green Green List (high evidence)	FLVCR1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder MONDO:0700092, FLVCR1-related Tags
Green Green List (high evidence)	FLVCR1 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Ataxia, posterior column, with retinitis pigmentosa MIM#609033 Tags
Green Green List (high evidence)	FLVCR1 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092 Syndromic disease, MONDO:0002254 posterior column ataxia-retinitis pigmentosa syndrome, MONDO:0012177 Tags
Green Green List (high evidence)	FLVCR2 Cerebral vascular malformations v2.0	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Disease associations Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome Tags
Green Green List (high evidence)	FLVCR2 Brain Calcification v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790 Tags
Green Green List (high evidence)	FMO3 Miscellaneous Metabolic Disorders v2.3	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Disease associations Trimethylaminuria MIM#602079 Disorders and variants of other enzymes that oxidise xenobiotics Tags
Green Green List (high evidence)	FMR1_FXTAS_CGG STR Early-onset Parkinson disease v3.33	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Disease associations Fragile X tremor/ataxia syndrome MIM#300623 Tags
Green Green List (high evidence)	FMR1_FXTAS_CGG STR Ataxia v2.272	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Expert Review Green Expert list Disease associations Fragile X tremor/ataxia syndrome MIM#300623 Tags STR
Green Green List (high evidence)	FOLR1 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Disease associations Neurodegeneration due to cerebral folate transport deficiency, 613068 Neurodegeneration due to cerebral folate transport deficiency Tags
Green Green List (high evidence)	FOLR1 Neurotransmitter Defects v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068 Tags
Green Green List (high evidence)	FOLR1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068 Tags
Green Green List (high evidence)	FOLR1 Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Neurodegeneration due to cerebral folate transport deficiency 613068 Tags
Green Green List (high evidence)	FOXG1 Early-onset Parkinson disease v3.33	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Rett syndrome, congenital variant, MIM# 613454 Developmental and Epileptic Encephalopathy Dystonia, Athetosis Parkinsonism Stereotypies Tags
Green Green List (high evidence)	FOXG1 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Rett syndrome, congenital variant, MIM# 613454 Tags
Green Green List (high evidence)	FOXG1 Dystonia and Chorea v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Disease associations Rett syndrome, congenital variant Dystonia Tags
Green Green List (high evidence)	FOXP1 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Disease associations Intellectual developmental disorder with language impairment with or without autistic features, MIM# 613670 Tags
Green Green List (high evidence)	FOXRED1 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000 Tags
Green Green List (high evidence)	FOXRED1 Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex I deficiency, nuclear type 19 MIM#618241 Tags
Green Green List (high evidence)	FRMD5 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with eye movement abnormalities and ataxia, MIM# 620094 Tags
Green Green List (high evidence)	FRMD5 Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with eye movement abnormalities and ataxia, MIM# 620094 Tags
Green Green List (high evidence)	FRRS1L Early-onset Parkinson disease v3.33	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Developmental and epileptic encephalopathy 37, MIM# 616981 Seizures Chorea Parkinsonism Developmental delay Tags
Green Green List (high evidence)	FRRS1L Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Developmental and epileptic encephalopathy, 37 MONDO:0014859 Tags
Green Green List (high evidence)	FSD1L Hereditary Spastic Paraplegia v2.111	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Other Disease associations Neurodevelopmental disorder with seizures, spastic tetraparesis, and vision impairment, MIM# 621643 Tags
Green Green List (high evidence)	FSD1L Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Other Disease associations Neurodevelopmental disorder with seizures, spastic tetraparesis, and vision impairment, MIM# 621643 Tags
Green Green List (high evidence)	FTCD Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Glutamate formiminotransferase deficiency MIM#229100 Disorders of histidine, tryptophan or lysine metabolism Tags
Green Green List (high evidence)	FTH1 Neurodegeneration with brain iron accumulation v2.0	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Neurodegeneration with brain iron accumulation 9, MIM# 620669 Tags
Green Green List (high evidence)	FTL Dystonia and Chorea v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Disease associations Neurodegeneration with brain iron accumulation 3, MIM# 606159 Tags
Green Green List (high evidence)	FTL Metal Metabolism Disorders v1.1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS Genomic Medicine Service Genomics England PanelApp Disease associations 606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 LFTD NBIA3 615604 L-FERRITIN DEFICIENCY HRFTC 606159 Neurodegeneration with brain iron accumulation 3 600886 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT 600886 Hyperferritinemia-cataract syndrome 615604 L-ferritin deficiency, dominant and recessive Tags
Green Green List (high evidence)	FTL Neurodegeneration with brain iron accumulation v2.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources GeneReviews Expert Review Green Disease associations Neuroferritinopathy Tags
Green Green List (high evidence)	FTL Early-onset Dementia v2.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Neurodegeneration with brain iron accumulation 3, MIM# 606159 Tags
Green Green List (high evidence)	FTL Early-onset Parkinson disease v3.33	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	FUCA1 Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Fucosidosis, MIM# 230000 MONDO:0009254 Tags
Green Green List (high evidence)	FUCA1 Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Fucosidosis, MIM#230000 Tags
Green Green List (high evidence)	FUCA1 Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Fucosidosis General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	FUCA1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Fucosidosis, MIM# 230000 MONDO:0009254 Tags
Green Green List (high evidence)	FUS Motor Neurone Disease v2.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (MIM#608030) Tags
Green Green List (high evidence)	FUS Early-onset Dementia v2.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, MIM# 608030 Tags
Green Green List (high evidence)	FUT8 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Congenital disorder of glycosylation with defective fucosylation, 618005 Tags
Green Green List (high evidence)	FUT8 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Disease associations Congenital disorder of glycosylation with defective fucosylation, 618005 Tags
Green Green List (high evidence)	FXN Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Friedreich ataxia MIM#229300 Tags STR
Green Green List (high evidence)	FXN Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Friedreich ataxia, MIM# 229300 Tags
Green Green List (high evidence)	FXN Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Royal Melbourne Hospital Disease associations Friedreich ataxia, 229300 Tags STR SV/CNV
Green Green List (high evidence)	FXN Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Friedreich ataxia, MIM# 229300 Tags STR
Green Green List (high evidence)	FXN_FRDA_GAA STR Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Friedreich ataxia MIM#229300 Tags
Green Green List (high evidence)	FXN_FRDA_GAA STR Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert Review Green Expert list Disease associations Friedreich ataxia MIM#229300 Tags STR
Green Green List (high evidence)	FXN_FRDA_GAA STR Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert List Disease associations Friedreich ataxia MIM#229300 Tags
Green Green List (high evidence)	FXN_FRDA_GAA STR Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Friedreich ataxia MIM#229300 Tags
Green Green List (high evidence)	FZR1 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Developmental and epileptic encephalopathy 109, MIM# 620145 Tags
Green Green List (high evidence)	G6PC1 Glycogen Storage Diseases v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Glycogen storage disease Ia, MIM# 232200 Tags treatable
Green Green List (high evidence)	G6PC3 Congenital Disorders of Glycosylation v2.2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Dursun syndrome 612541 Neutropenia, severe congenital 4, autosomal recessive 612541 Tags
Green Green List (high evidence)	GAA Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Glycogen storage disease II (MIM#232300) Tags
Green Green List (high evidence)	GAA Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Glycogen storage disease II, MIM# 232300 MONDO:0009290 Tags
Green Green List (high evidence)	GAA Glycogen Storage Diseases v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Glycogen storage disease II (MIM#232300) MONDO:0009290 Tags
Green Green List (high evidence)	GAA Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Glycogen storage disease II 232300 Tags
Green Green List (high evidence)	GAA Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations glycogen storage disease II, MONDO:0009290 Tags
Green Green List (high evidence)	GABBR2 Neurotransmitter Defects v2.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Disease associations Developmental and epileptic encephalopathy, 59 MONDO:0033368 Gamma-aminobutyric acid neurotransmitter disorders Tags
Green Green List (high evidence)	GABBR2 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Developmental and epileptic encephalopathy 59, MIM# 617904 Tags
Green Green List (high evidence)	GABRA1 Neurotransmitter Defects v2.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Epileptic encephalopathy, early infantile, 19, MIM# 615744 Tags
Green Green List (high evidence)	GABRA1 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Epileptic encephalopathy, early infantile, 19 615744 Rett syndrome Rett-like phenotypes idiopathic generalized Epilepsy Dravet syndrome Tags
Green Green List (high evidence)	GABRA2 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Epileptic encephalopathy, early infantile, 78, MIM# 618557 Tags
Green Green List (high evidence)	GABRA3 Genetic Epilepsy v2.60	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Disease associations Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features, MIM# 301091 Tags
Green Green List (high evidence)	GABRA4 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder MONDO:0700092, GABRA4-related Tags
Green Green List (high evidence)	GABRA5 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Epileptic encephalopathy, early infantile, 79 OMIM #618559 Tags
Green Green List (high evidence)	GABRB1 Neurotransmitter Defects v2.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Disease associations Developmental and epileptic encephalopathy, 45 MONDO:0014942 Gamma-aminobutyric acid neurotransmitter disorders Tags
Green Green List (high evidence)	GABRB1 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Epileptic encephalopathy, early infantile, 45, MIM# 617153 Tags
Green Green List (high evidence)	GABRB2 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Epileptic encephalopathy, infantile or early childhood, 2, MIM# 617829 Tags
Green Green List (high evidence)	GABRB2 Neurotransmitter Defects v2.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Disease associations Epileptic encephalopathy, infantile or early childhood, 2 MONDO:0020631 Gamma-aminobutyric acid neurotransmitter disorders Tags
Green Green List (high evidence)	GABRB2 Dystonia and Chorea v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations epileptic encephalopathy, infantile or early childhood, 2 MONDO:0020631 Tags
Green Green List (high evidence)	GABRB2 Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations complex neurodevelopmental disorder, MONDO:0100038 Tags
Green Green List (high evidence)	GABRB3 Neurotransmitter Defects v2.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Epileptic encephalopathy, early infantile, 43, MIM# 617113 Tags
Green Green List (high evidence)	GABRB3 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Epileptic encephalopathy, early infantile, 43, MIM# 617113 Tags
Green Green List (high evidence)	GABRB3 Dystonia and Chorea v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Literature Disease associations Developmental and epileptic encephalopathy 43 MIM#617113 Tags
Green Green List (high evidence)	GABRD Neurotransmitter Defects v2.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Intellectual disability Epilepsy Susceptibility to epilepsy, MIM#613060 Tags
Green Green List (high evidence)	GABRD Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Intellectual disability Epilepsy Susceptibility to epilepsy, MIM#613060 Tags
Green Green List (high evidence)	GABRG2 Neurotransmitter Defects v2.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Epileptic encephalopathy, early infantile, 74 618396 Epilepsy, generalized, with febrile seizures plus, type 3 607681 Tags
Green Green List (high evidence)	GABRG2 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Epileptic encephalopathy, early infantile, 74 618396 Epilepsy, generalized, with febrile seizures plus, type 3 607681 Tags
Green Green List (high evidence)	GAD1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Developmental and epileptic encephalopathy 89, MIM# 619124 Tags
Green Green List (high evidence)	GALC Brain Calcification v3.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Krabbe disease, MIM# 245200 Tags
Green Green List (high evidence)	GALC Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Krabbe disease, MIM# 245200 MONDO:0009499 Tags
Green Green List (high evidence)	GALC Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Krabbe disease, MIM# 245200 Tags
Green Green List (high evidence)	GALC Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert Review Green Expert list Disease associations Krabbe disease MIM#245200 Tags
Green Green List (high evidence)	GALC Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Krabbe disease, MIM# 245200 MONDO:0009499 Tags
Green Green List (high evidence)	GALC Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Krabbe disease, MONDO:0009499 Tags
Green Green List (high evidence)	GALE Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Galactose epimerase deficiency MIM#230350 Disorders of galactose metabolism Tags treatable
Green Green List (high evidence)	GALK1 Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Galactokinase deficiency with cataracts MIM#230200 Disorders of galactose metabolism Tags treatable
Green Green List (high evidence)	GALM Miscellaneous Metabolic Disorders v2.3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Disease associations Galactosemia IV MIM#618881 Disorders of galactose metabolism Tags
Green Green List (high evidence)	GALNS Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Mucopolysaccharidosis IVA, MIM# 253000 MONDO:0009659 Tags treatable
Green Green List (high evidence)	GALNT2 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Congenital disorder of glycosylation, type IIt, MIM# 618885 Tags
Green Green List (high evidence)	GALNT2 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Congenital disorder of glycosylation Tags
Green Green List (high evidence)	GALNT3 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900 Tags
Green Green List (high evidence)	GALT Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Galactosemia, MIM#230400 Tags treatable
Green Green List (high evidence)	GALT Miscellaneous Metabolic Disorders v2.3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Galactosemia MIM#230400 Disorders of galactose metabolism Tags treatable
Green Green List (high evidence)	GAMT Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Cerebral creatine deficiency syndrome 2 MIM#612736 Disorders of creatinine metabolism Tags treatable
Green Green List (high evidence)	GAMT Dystonia and Chorea v1.13	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Cerebral creatine deficiency syndrome 2 MIM#612736 Tags treatable
Green Green List (high evidence)	GAMT Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Cerebral creatine deficiency syndrome 2 MIM#612736 Disorders of creatinine metabolism Tags treatable
Green Green List (high evidence)	GAN Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Giant axonal neuropathy-1, MIM# 256850 Tags
Green Green List (high evidence)	GAN Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Giant axonal neuropathy-1, MIM# 256850 Tags
Green Green List (high evidence)	GAN Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations giant axonal neuropathy 1, MONDO:0009749 Tags
Green Green List (high evidence)	GARS1 Mitochondrial disease v2.12	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial disease (MONDO:0044970), GARS1-related Spinal muscular atrophy, infantile, James type, MIM# 619042 Charcot-Marie-Tooth disease, type 2D, MIM# 601472 Neuronopathy, distal hereditary motor, type VA, MIM# 600794 Multi-system mitochondrial disorder Tags new gene name
Green Green List (high evidence)	GARS1 Hereditary Neuropathy v3.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Disease associations HMSN, dHMN/dSMA Spinal muscular atrophy, infantile, James type, MIM# 619042 Neuropathy, distal hereditary motor, type V, 600794 Charcot Marie Tooth disease, type 2D, 601472 Tags new gene name
Green Green List (high evidence)	GATA3 Brain Calcification v3.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255 Tags
Green Green List (high evidence)	GATM Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Cerebral creatine deficiency syndrome 3 MIM#612718 Tags
Green Green List (high evidence)	GBA1 Metal Metabolism Disorders v1.1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS Genomic Medicine Service Expert Review Green Genomics England PanelApp Disease associations 230800 Gaucher disease, type I 230900 Gaucher disease, type II 231005 Gaucher disease, type IIIC 231000 Gaucher disease, type III Tags
Green Green List (high evidence)	GBA1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Gaucher disease, perinatal lethal, MIM# 608013 Gaucher disease, type I, MIM# 230800 Gaucher disease, type II, MIM# 230900 Gaucher disease, type III, MIM# 231000 Gaucher disease, type IIIC, MIM# 231005 Tags
Green Green List (high evidence)	GBA1 Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Gaucher disease, perinatal lethal, MIM# 608013 Gaucher disease, type I, MIM# 230800 Gaucher disease, type II, MIM# 230900 Gaucher disease, type III, MIM# 231000 Gaucher disease, type IIIC, MIM# 231005 Tags
Green Green List (high evidence)	GBA1 Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Gaucher disease, type III, MIM# 231000 Tags
Green Green List (high evidence)	GBA1 Early-onset Parkinson disease v3.33	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Parkinson's disease, MONDO:0005180, GBA-related Tags new gene name
Green Green List (high evidence)	GBA1 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Gaucher disease type III, MONDO:0009267 Tags
Green Green List (high evidence)	GBA2 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Spastic paraplegia 46, autosomal recessive, 614409 SPG46, Spastic paraplegia, cognitive decline, thin corpus callosum, ataxia, cataracts, bulbar dysfunction, axonal sensory-motor neuropathy Tags
Green Green List (high evidence)	GBA2 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Spastic paraplegia 46, autosomal recessive, MIM# 614409 Tags
Green Green List (high evidence)	GBA2 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Spastic paraplegia 46, autosomal recessive, MIM# 614409 MONDO:0013737 Tags
Green Green List (high evidence)	GBE1 Rhabdomyolysis and Metabolic Myopathy v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Glycogen storage disease IV, MIM# 232500 Polyglucosan body disease, adult form MIM#263570 Tags
Green Green List (high evidence)	GBE1 Glycogen Storage Diseases v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Glycogen storage disease due to glycogen branching enzyme deficiency MONDO:0009292 Tags
Green Green List (high evidence)	GBE1 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Polyglucosan body disease, adult form MIM#263570 Late-onset, cognitive impairment, spasticity, sensory-motor axonal neuropathy, bladder dysfunction, cerebellar and extrapyramidal signs also seen, periventricular white matter abnormalities on MRI Tags
Green Green List (high evidence)	GBE1 Motor Neurone Disease v2.29	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations Polyglucosan body disease, adult form MIM#263570 Tags
Green Green List (high evidence)	GBE1 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert Review Green Expert list Disease associations Polyglucosan body disease, adult form MIM#263570 Tags
Green Green List (high evidence)	GBE1 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Polyglucosan body disease, adult form, 263570 Tags
Green Green List (high evidence)	GBF1 Hereditary Neuropathy v3.0	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Literature Disease associations Charcot-Marie-Tooth disease, dominant intermediate A, MIM# 606483 Axonal Neuropathy Tags
Green Green List (high evidence)	GCDH Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Glutaric aciduria, type I MIM#231670 Tags
Green Green List (high evidence)	GCDH Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations glutaryl-CoA dehydrogenase deficiency MONDO:0009281 Tags treatable
Green Green List (high evidence)	GCDH Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Glutaricaciduria, type I MIM#231670 Organic acidurias Tags treatable
Green Green List (high evidence)	GCH1 Hereditary Spastic Paraplegia v2.111	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Royal Melbourne Hospital Disease associations Hereditary spastic paraplegia MONDO:0019064, GCH1-related Tags
Green Green List (high evidence)	GCH1 Early-onset Parkinson disease v3.33	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230 Tags
Green Green List (high evidence)	GCH1 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Hyperphenylalaninemia, BH4-deficient, B, MIM# 233910 Tags
Green Green List (high evidence)	GCH1 Neurotransmitter Defects v2.0	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Hyperphenylalaninemia, BH4-deficient, B, MIM# 233910 Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230 Tags
Green Green List (high evidence)	GCH1 Dystonia and Chorea v1.13	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Disease associations Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230 Tags
Green Green List (high evidence)	GCLC Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency MIM#230450 Disorders of the gamma-glutamyl cycle Tags
Green Green List (high evidence)	GCM2 Brain Calcification v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Hypoparathyroidism, familial isolated 2, MIM# 618883 Tags
Green Green List (high evidence)	GCSH Genetic Epilepsy v2.60	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Victorian Clinical Genetics Services Disease associations Multiple mitochondrial dysfunctions syndrome 7, MIM# 620423 Tags
Green Green List (high evidence)	GCSH Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Multiple mitochondrial dysfunctions syndrome 7, MIM# 620423 Tags
Green Green List (high evidence)	GDAP1 Mitochondrial disease v2.12	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Charcot-Marie-Tooth disease, axonal, type 2K 607831, MIM# Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, MIM# 607706 Charcot-Marie-Tooth disease, recessive intermediate, A, MIM# 608340 Charcot-Marie-Tooth disease, type 4A, MIM# 214400 Tags
Green Green List (high evidence)	GDAP1 Hereditary Neuropathy v3.0	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Charcot-Marie-Tooth disease, axonal, type 2K 607831, MIM# Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, MIM# 607706 Charcot-Marie-Tooth disease, recessive intermediate, A, MIM# 608340 Charcot-Marie-Tooth disease, type 4A, MIM# 214400 Tags
Green Green List (high evidence)	GDAP2 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert list Expert Review Green Expert Review Green Expert list Disease associations Autosomal recessive spinocerebellar ataxia Tags
Green Green List (high evidence)	GDAP2 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations spinocerebellar ataxia, autosomal recessive 27, MONDO:0032706 Tags
Green Green List (high evidence)	GDAP2 Early-onset Dementia v2.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Expert Review Green Literature Disease associations spinocerebellar ataxia, autosomal recessive 27, MONDO:0032706 Tags
Green Green List (high evidence)	GEMIN5 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, MONDO:0859152 Tags
Green Green List (high evidence)	GEMIN5 Ataxia v2.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Literature Disease associations Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, OMIM # 619333 Tags
Green Green List (high evidence)	GFAP Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Disease associations Alexander disease, 203450 Autosomal Dominant Ataxia Alexander disease Tags
Green Green List (high evidence)	GFAP Hereditary Spastic Paraplegia v2.111	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Alexander disease MONDO:0008752 Tags
Green Green List (high evidence)	GFAP Leukodystrophy v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Alexander disease, MIM# 203450 Tags
Green Green List (high evidence)	GFAP Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Alexander disease, MIM# 203450 Tags
Green Green List (high evidence)	GFER Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay (MIM #613076) Tags
Green Green List (high evidence)	GFER Rhabdomyolysis and Metabolic Myopathy v2.0	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Disease associations Myopathy, mitochondrial progressive, with congenital cataract and developmental delay (MIM#613076) Tags
Green Green List (high evidence)	GFM1 Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Combined oxidative phosphorylation deficiency 1 Mitochondrial Leukoencephalopathy General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	GFM1 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Combined oxidative phosphorylation deficiency 1 MIM#609060 Tags
Green Green List (high evidence)	GFM1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Combined oxidative phosphorylation deficiency 1 MIM#609060 Tags
Green Green List (high evidence)	GFM2 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Combined oxidative phosphorylation deficiency 39, OMIM #618397 Tags
Green Green List (high evidence)	GFPT1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Victorian Clinical Genetics Services Disease associations Myasthenia, congenital, 12, with tubular aggregates MIM#610542 Limb-girdle congenital myasthenic syndrome Tags
Green Green List (high evidence)	GFPT1 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Myasthenia, congenital, 12, with tubular aggregates, 610542 Limb-girdle congenital myasthenic syndrome Leukoencephalopathy Tags
Green Green List (high evidence)	GIPC1_OPDM2_CGG STR Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Oculopharyngodistal myopathy 2 MIM#618940 Tags
Green Green List (high evidence)	GIT1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, GIT1-related Tags
Green Green List (high evidence)	GJA1 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert Review Green Expert list Disease associations Hereditary spastic paraplegia Oculodentodigital dysplasia, 164200, Oculodentodigital dysplasia, autosomal recessive, 257850 Tags
Green Green List (high evidence)	GJA1 Brain Calcification v3.0	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Oculodentodigital dysplasia, MIM# 164200 Tags
Green Green List (high evidence)	GJA1 Leukodystrophy v1.12	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Disease associations Hereditary spastic paraplegia Oculodentodigital dysplasia, 164200, Oculodentodigital dysplasia, autosomal recessive, 257850 Tags
Green Green List (high evidence)	GJB1 Leukodystrophy v1.12	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Disease associations Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800 Reversible posterior leukoencephalopathy Tags
Green Green List (high evidence)	GJB1 Hereditary Neuropathy v3.0	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Royal Melbourne Hospital Disease associations Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM# 302800 MONDO:0010549 HMSN Tags
Green Green List (high evidence)	GJC2 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Leukodystrophy, hypomyelinating, 2, MIM# 608804 Tags
Green Green List (high evidence)	GJC2 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Leukodystrophy, hypomyelinating, 2, MIM# 608804 Tags
Green Green List (high evidence)	GJC2 Ataxia v2.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Disease associations Hypomyelinating leukodystrophy 2, 608804 Leukodystrophy, hypomyelinating, 2 Autosomal Recessive Ataxia Spastic paraplegia 44, 613206 Tags
Green Green List (high evidence)	GJC2 Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Leukodystrophy, hypomyelinating, 2, MIM# 608804 Tags
Green Green List (high evidence)	GK Miscellaneous Metabolic Disorders v2.3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Disease associations Glycerol kinase deficiency MIM#307030 Disorders of glycerol metabolism Tags
Green Green List (high evidence)	GLA Early-onset Dementia v2.14	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Disease associations Fabry disease MONDO:0010526 Tags
Green Green List (high evidence)	GLA Hereditary Neuropathy v3.0	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Royal Melbourne Hospital Disease associations Cardiomyopathy HSAN/SFN Fabry disease Tags
Green Green List (high evidence)	GLA Lysosomal Storage Disorder v2.2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Fabry disease, MIM# 301500 MONDO:0010526 Tags
Green Green List (high evidence)	GLA Leukodystrophy v1.12	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Disease associations Fabry disease, Fabry disease, cardiac variant, 301500 Tags
Green Green List (high evidence)	GLA Pain syndromes v1.0	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genomics England PanelApp Disease associations Fabry disease, 301500 Tags
Green Green List (high evidence)	GLB1 Early-onset Parkinson disease v3.33	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations GM1-gangliosidosis, type III , MIM#230650 Parkinsonism Tags
Green Green List (high evidence)	GLB1 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations GM1-gangliosidosis, type I, MIM# 230500 GM1-gangliosidosis, type II, MIM# 230600 Tags
Green Green List (high evidence)	GLB1 Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations GM1 gangliosidosis type 3 MONDO:0009262 Tags
Green Green List (high evidence)	GLB1 Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations GM1-gangliosidosis, type I, MIM# 230500 GM1-gangliosidosis, type II, MIM# 230600 GM1-gangliosidosis, type III, MIM# 230650 Mucopolysaccharidosis type IVB (Morquio), MIM# 253010 Tags
Green Green List (high evidence)	GLB1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations GM1-gangliosidosis, type I MIM#230500 GM1-gangliosidosis, type II MIM# 230600 Tags
Green Green List (high evidence)	GLDC Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Glycine encephalopathy (MIM#605899) Tags
Green Green List (high evidence)	GLDC Miscellaneous Metabolic Disorders v2.3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Glycine encephalopathy MIM#605899 Disorders of serine, glycine or glycerate metabolism Tags
Green Green List (high evidence)	GLDN Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations lethal congenital contracture syndrome 11, MONDO:0014965 Tags
Green Green List (high evidence)	GLI3 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Disease associations Pallister-Hall syndrome, MIM# 146510 Tags
Green Green List (high evidence)	GLRA1 Neurotransmitter Defects v2.0	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Hyperekplexia 1, MIM# 149400 Tags
Green Green List (high evidence)	GLRA1 Brain Channelopathies v2.0	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Hyperekplexia 1, MIM# 149400 Tags
Green Green List (high evidence)	GLRA2 Genetic Epilepsy v2.60	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert Review Disease associations Intellectual developmental disorder, X-linked, syndromic, Pilorge type, MIM# 301076 Tags
Green Green List (high evidence)	GLRB Brain Channelopathies v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Hyperekplexia 2, MIM# 614619 Tags
Green Green List (high evidence)	GLRB Neurotransmitter Defects v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Hyperekplexia 2, MIM# 614619 Tags
Green Green List (high evidence)	GLRX5 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Anaemia, sideroblastic, 3, pyridoxine-refractory, MIM# 616860 Tags
Green Green List (high evidence)	GLRX5 Hereditary Spastic Paraplegia v2.111	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Spasticity, childhood-onset, with hyperglycinemia 616859 Tags
Green Green List (high evidence)	GLRX5 Metal Metabolism Disorders v1.1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS Genomic Medicine Service Expert Review Green Genomics England PanelApp Disease associations 616860 Anemia, sideroblastic, 3, pyridoxine-refractory Sideroblastic anaemia - increased serum ferritin Tags
Green Green List (high evidence)	GLRX5 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Spasticity, childhood-onset, with hyperglycinemia 616859 Tags
Green Green List (high evidence)	GLS Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Disease associations Developmental and epileptic encephalopathy 71 MIM#618328 Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412 disorder of amino acid metabolism Tags
Green Green List (high evidence)	GLS Genetic Epilepsy v2.60	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Epileptic encephalopathy, early infantile, 71, MIM# 618328 Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development MONDO:0032685 Tags
Green Green List (high evidence)	GLS Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations glutaminase deficiency, MONDO:0600001 Tags
Green Green List (high evidence)	GLS_GDPAG_GCA STR Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Expert Review Green Literature Disease associations Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412 Tags paediatric-onset
Green Green List (high evidence)	GLS_GDPAG_GCA STR Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412 Tags
Green Green List (high evidence)	GLS_GDPAG_GCA STR Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412 Tags
Green Green List (high evidence)	GLUD1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Hyperinsulinism-hyperammonemia syndrome, MIM# 606762 Tags
Green Green List (high evidence)	GLUD1 Fatty Acid Oxidation Defects v2.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Hyperinsulinism-hyperammonemia syndrome, MIM# 606762 Tags
Green Green List (high evidence)	GLUL Genetic Epilepsy v2.60	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Glutamine deficiency, congenital MIM#610015 Developmental and epileptic encephalopathy 116, MIM# 620806 Tags
Green Green List (high evidence)	GLUL Miscellaneous Metabolic Disorders v2.3	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Glutamine deficiency, congenital MIM#610015 Developmental and epileptic encephalopathy 116, MIM# 620806 Tags
Green Green List (high evidence)	GLYCTK Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations D-glyceric aciduria, MIM# 220120 Tags
Green Green List (high evidence)	GLYCTK Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations D-glyceric aciduria MIM#220120 Disorders of serine, glycine or glycerate metabolism Tags
Green Green List (high evidence)	GM2A Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations GM2-gangliosidosis, AB variant, MIM# 272750 Tags
Green Green List (high evidence)	GM2A Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations GM2-gangliosidosis, AB variant, MIM#272750 Tags
Green Green List (high evidence)	GM2A Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations GM2-gangliosidosis, AB variant MIM#272750 Tags
Green Green List (high evidence)	GMPPA Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510) Tags
Green Green List (high evidence)	GMPPB Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352 Tags
Green Green List (high evidence)	GMPPB Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350 Tags
Green Green List (high evidence)	GMPPB Rhabdomyolysis and Metabolic Myopathy v2.0	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 MIM#615352 Limb myalgia exercise intolerance myoglobinuria Tags
Green Green List (high evidence)	GMPPB Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (MIM# 615350) Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 (MIM# 615351) Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (MIM# 615352) Tags
Green Green List (high evidence)	GNAI1 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, MIM# 619854 Tags
Green Green List (high evidence)	GNAL Dystonia and Chorea v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Disease associations Dystonia 25, MIM# 615073 MONDO:0014033 Tags
Green Green List (high evidence)	GNAO1 Dystonia and Chorea v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Disease associations Neurodevelopmental disorder with involuntary movements, 617493 Tags
Green Green List (high evidence)	GNAO1 Early-onset Parkinson disease v3.33	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations movement disorder, MONDO:0005395 Tags
Green Green List (high evidence)	GNAO1 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Epileptic encephalopathy, early infantile, 17 Neurodevelopmental disorder with involuntary movements Tags
Green Green List (high evidence)	GNAQ Genetic Epilepsy v2.60	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Sturge-Weber syndrome, somatic, mosaic 185300 Tags somatic
Green Green List (high evidence)	GNAS Brain Calcification v3.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Expert list Disease associations Pseudohypoparathyroidism Ib, MIM# 603233 Tags
Green Green List (high evidence)	GNB1 Dystonia and Chorea v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Disease associations Mental retardation, autosomal dominant 42, MIM# 616973 Myoclonus dystonia Tags
Green Green List (high evidence)	GNB1 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Intellectual developmental disorder, autosomal dominant 42, MIM# 616973 Tags
Green Green List (high evidence)	GNB4 Hereditary Neuropathy v3.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Disease associations Charcot-Marie-Tooth disease, dominant intermediate F, MIM# 615185 MONDO:0014074 HMSN Tags
Green Green List (high evidence)	GNB5 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations gnb5-related intellectual disability-cardiac arrhythmia syndrome MONDO:0014953 Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia (MIM#617173) Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia (MIM#617182) Tags
Green Green List (high evidence)	GNE Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Nonaka myopathy, MIM# 605820 Tags
Green Green List (high evidence)	GNE Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Nonaka myopathy 605820 Sialuria MIM#269921 ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) Tags
Green Green List (high evidence)	GNE Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Disease associations Nonaka myopathy (MIM#605820) Tags
Green Green List (high evidence)	GNMT Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Glycine N-methyltransferase deficiency MIM#606664 Disorders of the metabolism of sulphur amino acids Tags
Green Green List (high evidence)	GNPAT Peroxisomal Disorders v1.8	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	GNPTAB Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations GNPTAB-mucolipidosis MONDO:0100122 Mucolipidosis II alpha/beta, MIM# 252500 Mucolipidosis III alpha/beta, MIM# 252600 Tags
Green Green List (high evidence)	GNPTG Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Mucolipidosis III gamma, MIM# 252605 MONDO:0009652 Tags
Green Green List (high evidence)	GNS Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Mucopolysaccharidosis type IIID, MIM# 252940 Sanfilippo syndrome type D, MONDO:0009658 Tags
Green Green List (high evidence)	GORAB Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Geroderma osteodysplasticum MIM#231070 Tags
Green Green List (high evidence)	GOSR2 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Disease associations Epilepsy, progressive myoclonic 6, 614018 Progressive myoclonic epilepsy 6, 614018 Tags
Green Green List (high evidence)	GOSR2 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Epilepsy, progressive myoclonic 6 , MIM#614018 Tags
Green Green List (high evidence)	GOT2 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Epileptic encephalopathy, early infantile, 82, MIM# 618721 Tags
Green Green List (high evidence)	GOT2 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations developmental and epileptic encephalopathy, 82, MONDO:0032880 Tags
Green Green List (high evidence)	GPAA1 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Glycosylphosphatidylinositol biosynthesis defect 15, MIM# 617810 Tags
Green Green List (high evidence)	GPAA1 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Glycosylphosphatidylinositol biosynthesis defect 15, MIM# 617810 Tags
Green Green List (high evidence)	GPAA1 Ataxia v2.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Royal Melbourne Hospital Disease associations Glycosylphosphatidylinositol biosynthesis defect 15, 617810 Tags
Green Green List (high evidence)	GPD1 Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Hypertriglyceridemia, transient infantile MIM#614480 glycerol-3-phosphate dehydrogenase deficiency Tags
Green Green List (high evidence)	GPD1 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations Disorders of mitochondrial shuttles and carriers transient infantile hypertriglyceridemia and hepatosteatosis MONDO:0013771 Tags
Green Green List (high evidence)	GPHN Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Molybdenum cofactor deficiency C MIM#615501 Disorders of molybdenum cofactor metabolism Tags
Green Green List (high evidence)	GPHN Genetic Epilepsy v2.60	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Molybdenum cofactor deficiency C, MIM# 615501 Epilepsy Autism Intellectual disability Tags SV/CNV
Green Green List (high evidence)	GPHN Metal Metabolism Disorders v1.1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations Disorders of molybdenum cofactor metabolism sulfite oxidase deficiency due to molybdenum cofactor deficiency type C MONDO:0014212 Tags
Green Green List (high evidence)	GPRC5B Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Megalencephalic leukoencephalopathy with subcortical cysts 3 MIM#620447 Tags
Green Green List (high evidence)	GPRC5B Leukodystrophy v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Megalencephalic leukoencephalopathy with subcortical cysts 3 MIM#620447 Tags
Green Green List (high evidence)	GPT2 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Neurodevelopmental disorder with microcephaly and spastic paraplegia, MIM# 616281 Tags
Green Green List (high evidence)	GPT2 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Neurodevelopmental disorder with microcephaly and spastic paraplegia, MIM# 616281 Tags
Green Green List (high evidence)	GPT2 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Neurodevelopmental disorder with microcephaly and spastic paraplegia, MIM# 616281 Tags
Green Green List (high evidence)	GRIA1 Genetic Epilepsy v2.60	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Intellectual developmental disorder, autosomal dominant 67, MIM# 619927 Tags
Green Green List (high evidence)	GRIA2 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Intellectual disability autism Rett-like features epileptic encephalopathy Neurodevelopmental disorder with language impairment and behavioral abnormalities, MIM# 618917 Tags
Green Green List (high evidence)	GRIA3 Genetic Epilepsy v2.60	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert Review Disease associations Intellectual developmental disorder, X-linked, syndromic, Wu type (MIM#300699) Tags
Green Green List (high evidence)	GRIA3 Neurotransmitter Defects v2.0	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Disease associations Glutamate neurotransmitter disorders X-linked complex neurodevelopmental disorder MONDO:0100148 Tags
Green Green List (high evidence)	GRIA4 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Neurodevelopmental disorder with or without seizures and gait abnormalities MIM#617864 Tags
Green Green List (high evidence)	GRIA4 Neurotransmitter Defects v2.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Disease associations Glutamate neurotransmitter disorders Neurodevelopmental disorder with or without seizures and gait abnormalities MONDO:0060641 Tags
Green Green List (high evidence)	GRID2 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Disease associations Spinocerebellar ataxia, autosomal recessive 18, 616204 Tags
Green Green List (high evidence)	GRIK2 Genetic Epilepsy v2.60	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder, autosomal recessive 6 MIM#611092 Neurodevelopmental disorder with impaired language and ataxia and with or without seizures MIM#619580 Tags
Green Green List (high evidence)	GRIN1 Neurotransmitter Defects v2.0	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations Glutamate neurotransmitter disorders Complex neurodevelopmental disorder MONDO:0100038 Tags
Green Green List (high evidence)	GRIN1 Genetic Epilepsy v2.60	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Developmental and epileptic encephalopathy 101, MIM# 619814 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820 Tags
Green Green List (high evidence)	GRIN1 Dystonia and Chorea v1.13	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820 Tags
Green Green List (high evidence)	GRIN2A Genetic Epilepsy v2.60	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Epilepsy, focal, with speech disorder and with or without mental retardation, MIM# 245570 Tags
Green Green List (high evidence)	GRIN2A Neurotransmitter Defects v2.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Disease associations Glutamate neurotransmitter disorders Complex neurodevelopmental disorder MONDO:0100038 Tags
Green Green List (high evidence)	GRIN2B Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations GRIN2B-related complex neurodevelopmental disorder MONDO:0700350 Developmental and epileptic encephalopathy 27 MIM#616139 Intellectual developmental disorder, autosomal dominant 6, with or without seizures MIM#613970 Tags
Green Green List (high evidence)	GRIN2B Neurotransmitter Defects v2.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Disease associations Glutamate neurotransmitter disorders Complex neurodevelopmental disorder MONDO:0100038 Tags
Green Green List (high evidence)	GRIN2D Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Epileptic encephalopathy, early infantile, 46, MIM# 617162 intellectual disability Tags
Green Green List (high evidence)	GRIN2D Neurotransmitter Defects v2.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Disease associations Glutamate neurotransmitter disorders Complex neurodevelopmental disorder MONDO:0100038 Tags
Green Green List (high evidence)	GRM1 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Spinocerebellar ataxia, autosomal recessive 13 Spinocerebellar ataxia 44, 617691, autosomal recessive spinocerebellar ataxia type 13, 614831 Tags
Green Green List (high evidence)	GRM1 Neurotransmitter Defects v2.0	0 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Disease associations Cerebellar ataxia MONDO:0000437 Glutamate neurotransmitter disorders Tags
Green Green List (high evidence)	GRM7 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Epilepsy, microcephaly, developmental delay neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities (NEDSHBA), MIM#618922 Tags
Green Green List (high evidence)	GRN Leukodystrophy v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Other Expert Review Green Expert Review Green Other Disease associations GRN-related frontotemporal lobar degeneration with Tdp43 inclusions MONDO:0011842 Tags
Green Green List (high evidence)	GRN Dystonia and Chorea v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Disease associations Frontotemporal lobar degeneration with ubiquitin-positive inclusions, MIM#607485 Tags
Green Green List (high evidence)	GRN Early-onset Dementia v2.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations frontotemporal dementia and/or amyotrophic lateral sclerosis MONDO:0030923 Tags
Green Green List (high evidence)	GRN Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Ceroid lipofuscinosis, neuronal, 11 614706 Tags
Green Green List (high evidence)	GRN Lysosomal Storage Disorder v2.2	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations neuronal ceroid lipofuscinosis MONDO:0016295 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions MONDO:0011842 Tags
Green Green List (high evidence)	GRN Motor Neurone Disease v2.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green ClinGen Disease associations frontotemporal dementia and/or amyotrophic lateral sclerosis MONDO:0030923 Tags
Green Green List (high evidence)	GRN Early-onset Parkinson disease v3.33	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green Disease associations Frontotemporal lobar degeneration with ubiquitin-positive inclusions, MIM# 607485 Tags
Green Green List (high evidence)	GRN Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations neuronal ceroid lipofuscinosis 11, MONDO:0013866 Tags
Green Green List (high evidence)	GSN Hereditary Neuropathy v3.0	3 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations Amyloidosis, Finnish type MIM#105120 Tags
Green Green List (high evidence)	GSPT2 Genetic Epilepsy v2.60	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Genomics England PanelApp Genetic Health Queensland Disease associations Neurodevelopmental disorder, MONDO:0700092, GSPT2-related Tags
Green Green List (high evidence)	GSS Ataxia v2.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Royal Melbourne Hospital Disease associations Gluthathione synthetase deficiency, MIM# 266130 Tags
Green Green List (high evidence)	GSS Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Glutathione synthetase deficiency MIM#266130 Hemolytic anemia due to glutathione synthetase deficiency MIM#231900 Disorders of the gamma-glutamyl cycle Tags
Green Green List (high evidence)	GSS Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Glutathione synthetase deficiency, MIM# 266130 Tags
Green Green List (high evidence)	GSX2 Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Diencephalic-mesencephalic junction dysplasia syndrome 2 618646 Intellectual disability Dystonia Spastic tetra paresis Tags
Green Green List (high evidence)	GTF3C3 Genetic Epilepsy v2.60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, MIM# 621201 Tags
Green Green List (high evidence)	GTPBP2 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Jaberi-Elahi syndrome, MIM#617988 Tags
Green Green List (high evidence)	GTPBP2 Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Jaberi-Elahi syndrome, MIM#617988 Tags
Green Green List (high evidence)	GTPBP2 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092 Tags
Green Green List (high evidence)	GTPBP3 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Combined oxidative phosphorylation deficiency 23, MIM#616198 Tags
Green Green List (high evidence)	GTPBP3 Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Combined oxidative phosphorylation deficiency 23, MIM#616198 Tags
Green Green List (high evidence)	GUCY1A1 Cerebral vascular malformations v2.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert Review Green Victorian Clinical Genetics Services Disease associations Moyamoya 6 with achalasia Moyamoya 6 with achalasia, 615750 Tags
Green Green List (high evidence)	GUK1 Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Mitochondrial DNA depletion syndrome 21, MIM# 621071 Tags
Green Green List (high evidence)	GUK1 Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Mitochondrial DNA depletion syndrome 21, MIM# 621071 Tags
Green Green List (high evidence)	GUSB Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Mucopolysaccharidosis VII, MIM# 253220 MONDO:0009662 Tags
Green Green List (high evidence)	GYG1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Disease associations Polyglucosan body myopathy 2, MIM# 616199 Glycogen storage disease XV , MIM# 613507 Tags
Green Green List (high evidence)	GYG1 Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations ?Glycogen storage disease XV 613507 Polyglucosan body myopathy 2 616199 Tags
Green Green List (high evidence)	GYG1 Glycogen Storage Diseases v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Glycogen storage disease XV, MIM# 613507 Polyglucosan body myopathy 2, MIM# 616199 Tags
Green Green List (high evidence)	GYS1 Glycogen Storage Diseases v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Glycogen storage disease 0, muscle, MIM# 611556 Tags
Green Green List (high evidence)	GYS1 Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Glycogen storage disease 0, muscle 611556 Tags
Green Green List (high evidence)	GYS2 Glycogen Storage Diseases v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Glycogen storage disease 0, liver (MIM#240600) Tags
Green Green List (high evidence)	H3-3A Genetic Epilepsy v2.60	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Bryant-Li-Bhoj neurodevelopmental syndrome 1 MIM#619720 Tags
Green Green List (high evidence)	H3-3B Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Bryant-Li-Bhoj neurodevelopmental syndrome 2 MIM#619721 Tags
Green Green List (high evidence)	HAAO Miscellaneous Metabolic Disorders v2.3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Vertebral, cardiac, renal, and limb defects syndrome 1 MIM#617660 NAD deficiency Tags
Green Green List (high evidence)	HACE1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Spastic paraplegia and psychomotor retardation with or without seizures, 616756 MONDO:0014764 Tags
Green Green List (high evidence)	HACE1 Hereditary Spastic Paraplegia v2.111	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Spastic paraplegia and psychomotor retardation with or without seizures, 616756 MONDO:0014764 Spastic paraplegia psychomotor retardation Tags
Green Green List (high evidence)	HADH Fatty Acid Oxidation Defects v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530 Hyperinsulinemic hypoglycemia, familial, 4, MIM# 609975 SCHAD deficiency, MONDO:0009278 Tags
Green Green List (high evidence)	HADH Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Literature Victorian Clinical Genetics Services Disease associations 3-hydroxyacyl-CoA dehydrogenase deficiency MIM#231530 Tags
Green Green List (high evidence)	HADHA Fatty Acid Oxidation Defects v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations LCHAD deficiency, MIM# 609016 Tags treatable
Green Green List (high evidence)	HADHA Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations LCHAD deficiency MIM#609016 Trifunctional protein deficiency MIM#609015 Tags treatable
Green Green List (high evidence)	HADHA Hereditary Neuropathy v3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations LCHAD deficiency MIM#609016 Mitochondrial trifunctional protein deficiency MIM#609015 Tags treatable
Green Green List (high evidence)	HADHA Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Disease associations LCHAD deficiency MIM#609016 Trifunctional protein deficiency MIM#609015 Tags treatable
Green Green List (high evidence)	HADHB Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Disease associations Trifunctional protein deficiency MIM#609015 Tags treatable
Green Green List (high evidence)	HADHB Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Trifunctional protein deficiency MIM#609015 Tags treatable
Green Green List (high evidence)	HADHB Fatty Acid Oxidation Defects v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Trifunctional protein deficiency, MIM# 609015 Tags treatable
Green Green List (high evidence)	HAMP Metal Metabolism Disorders v1.1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS Genomic Medicine Service Expert Review Green Genomics England PanelApp Disease associations 613313 Hemochromatosis, type 2B 613313 HEMOCHROMATOSIS, TYPE 2B HFE2B Tags
Green Green List (high evidence)	HARS1 Hereditary Neuropathy v3.0	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Charcot-Marie-Tooth disease, axonal, type 2W, MIM# 616625 MONDO:0014711 HMSN Tags new gene name
Green Green List (high evidence)	HARS2 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Perrault syndrome 2, MIM# 614926 Tags
Green Green List (high evidence)	HAX1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738 Kostmann syndrome MONDO:0012548 Tags
Green Green List (high evidence)	HCCS Mitochondrial disease v2.12	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Disease associations Linear skin defects with multiple congenital anomalies 1, MIM# 309801 Tags
Green Green List (high evidence)	HCFC1 Genetic Epilepsy v2.60	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Green NHS GMS Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Mental retardation, X-linked 3 (methylmalonic acidaemia and homocysteinaemia, cblX type) MIM# 309541 Tags
Green Green List (high evidence)	HCN1 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Developmental and epileptic encephalopathy 24, MIM# 615871 Generalized epilepsy with febrile seizures plus, type 10, MIM# 618482 Tags
Green Green List (high evidence)	HCN2 Genetic Epilepsy v2.60	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Generalized epilepsy with febrile seizures plus, type 11, MIM# 602477 Febrile seizures, familial, 2, MIM# 602477 Genetic epilepsy with febrile seizures plus Other seizure disorders Tags
Green Green List (high evidence)	HDAC3 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, HDAC3-related Tags
Green Green List (high evidence)	HECTD1 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder MONDO:0700092 Tags
Green Green List (high evidence)	HECTD4 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Expert Review Green Literature Disease associations Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, MIM# 620250 Tags
Green Green List (high evidence)	HECW2 Genetic Epilepsy v2.60	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Neurodevelopmental disorder with hypotonia, seizures, and absent language, MIM# 617268 intellectual disability epilepsy regression microcephaly Tags
Green Green List (high evidence)	HEPACAM Genetic Epilepsy v2.60	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Megalencephalic leukoencephalopathy with subcortical cysts 2A, MIM# 613925 Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, MIM# 613926 Tags
Green Green List (high evidence)	HEPACAM Leukodystrophy v1.12	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Megalencephalic leukoencephalopathy with subcortical cysts 2A, MIM# 613925 Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, MIM# 613926 Tags
Green Green List (high evidence)	HERC2 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Disease associations Mental retardation, autosomal recessive 38 (MIM 615516) Tags
Green Green List (high evidence)	HEXA Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Usually infantile-onset, developmental delay and cognitive decline, visual loss (‘cherry red spot’), motor>sensory neuronopathy, hypometric saccades, adult-onset (second decade) cases described Tay-Sachs disease Tags
Green Green List (high evidence)	HEXA Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Tay-Sachs disease, MIM# 272800 Tags
Green Green List (high evidence)	HEXA Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations GM2-gangliosidosis, several forms, 272800 Tay-Sachs disease, 272800 Tags
Green Green List (high evidence)	HEXA Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations GM2-gangliosidosis, several forms, MIM# 272800 Tay-Sachs disease, MIM# 272800 MONDO:0010100 Tags
Green Green List (high evidence)	HEXA Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations GM2-gangliosidosis, several forms 272800 Tay-Sachs disease 272800 Tags
Green Green List (high evidence)	HEXA Motor Neurone Disease v2.29	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations GM2-gangliosidosis, several forms or Tay-Sachs disease MIM#272800 Tags
Green Green List (high evidence)	HEXB Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Disease associations Sandhoff disease, infantile, juvenile, and adult forms, 268800 Sandhoff disease, 268800 Tags
Green Green List (high evidence)	HEXB Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Sandhoff disease, infantile, juvenile, and adult forms (MIM#268800) Tags
Green Green List (high evidence)	HEXB Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Sandhoff disease, infantile, juvenile, and adult forms, MIM# 268800 MONDO:0010006 Tags
Green Green List (high evidence)	HEXB Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Sandhoff disease, infantile, juvenile, and adult forms, MIM# 268800 MONDO:0010006 Tags
Green Green List (high evidence)	HEXB Motor Neurone Disease v2.29	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Disease associations Sandhoff disease, infantile, juvenile, and adult forms MIM#268800 Tags
Green Green List (high evidence)	HFE Metal Metabolism Disorders v1.1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS Genomic Medicine Service Expert Review Green Genomics England PanelApp Disease associations 235200 Hemochromatosis 235200 HEMOCHROMATOSIS, TYPE 1 235200HEMOCHROMATOSIS, TYPE 1 HFE1 Tags
Green Green List (high evidence)	HGD Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Alkaptonuria MIM#203500 Disorders of phenylalanine or tyrosine metabolism Tags
Green Green List (high evidence)	HGSNAT Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930 MONDO:0009657 Retinitis pigmentosa 73, MIM# 616544 MONDO:0014687 Tags
Green Green List (high evidence)	HIBCH Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620 Tags
Green Green List (high evidence)	HIBCH Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Disease associations 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620 Tags
Green Green List (high evidence)	HID1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Developmental and epileptic encephalopathy 105 with hypopituitarism MIM#619983 Tags
Green Green List (high evidence)	HIKESHI Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Expert Review Green Disease associations Leukodystrophy, hypomyelinating, 13, MIM#616881 Tags
Green Green List (high evidence)	HINT1 Hereditary Neuropathy v3.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Neuromyotonia and axonal neuropathy, autosomal recessive, MIM# 137200 Gamstorp-Wohlfart syndrome, MONDO:0007646 HMSN, dHMN/dSMA Tags
Green Green List (high evidence)	HIVEP2 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Intellectual developmental disorder, autosomal dominant 43, MIM# 616977 Tags
Green Green List (high evidence)	HJV Metal Metabolism Disorders v1.1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS Genomic Medicine Service Expert Review Green Genomics England PanelApp Disease associations HFE2A 602390 HEMOCHROMATOSIS, TYPE 2A 602390 Hemochromatosis, type 2A Tags
Green Green List (high evidence)	HK1 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Neuropathy, hereditary motor and sensory, Russe type, MIM#605285 Tags 5'UTR founder
Green Green List (high evidence)	HK1 Mitochondrial disease v2.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with visual defects and brain anomalies, MIM# 618547 Tags
Green Green List (high evidence)	HLCS Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Holocarboxylase synthetase deficiency, MIM# 253270 Tags treatable
Green Green List (high evidence)	HLCS Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Holocarboxylase synthetase deficiency, MIM# 253270 Tags treatable
Green Green List (high evidence)	HMBS Hereditary Neuropathy v3.0	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Disease associations Porphyria, acute intermittent MIM#176000 MONDO:0008294 Tags
Green Green List (high evidence)	HMBS Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Disease associations Porphyria, acute intermittent MIM#176000 Tags
Green Green List (high evidence)	HMBS Leukodystrophy v1.12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Leukoencephalopathy, porphyria-related, MIM# 620711 Tags
Green Green List (high evidence)	HMGCL Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations HMG-CoA lyase deficiency, MIM# 246450 Tags treatable
Green Green List (high evidence)	HMGCL Fatty Acid Oxidation Defects v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations HMG-CoA lyase deficiency, MIM# 246450 Tags SV/CNV treatable
Green Green List (high evidence)	HMGCL Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations HMG-CoA lyase deficiency, 246450 Tags treatable
Green Green List (high evidence)	HMGCL Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Disease associations HMG-CoA lyase deficiency MIM#246450 Tags treatable
Green Green List (high evidence)	HMGCR Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations autosomal recessive limb-girdle muscular dystrophy (MONDO:0015152), HMGCR-related Tags
Green Green List (high evidence)	HMGCS2 Fatty Acid Oxidation Defects v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations HMG-CoA synthase-2 deficiency, MIM# 605911 Tags
Green Green List (high evidence)	HMGCS2 Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Disease associations HMG-CoA synthase-2 deficiency MIM#605911 Tags
Green Green List (high evidence)	HNRNPA1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Disease associations Myopathy, distal, 3, MIM# 610099 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 MONDO:0014179 Tags
Green Green List (high evidence)	HNRNPA1 Motor Neurone Disease v2.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Amyotrophic lateral sclerosis 20 MIM#615426 Tags
Green Green List (high evidence)	HNRNPA2B1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature Royal Melbourne Hospital Disease associations oculopharyngeal muscular dystrophy, MONDO:0008116, OMIM#620460 Tags
Green Green List (high evidence)	HNRNPDL Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Disease associations Muscular dystrophy, limb-girdle, type 1G 609115 Tags
Green Green List (high evidence)	HNRNPH2 Genetic Epilepsy v2.60	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Intellectual developmental disorder, X-linked, syndromic, Bain type MIM#300986 Tags
Green Green List (high evidence)	HNRNPR Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, MIM# 620073 Tags
Green Green List (high evidence)	HNRNPU Genetic Epilepsy v2.60	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Developmental and epileptic encephalopathy 54 MIM# 617391 Tags
Green Green List (high evidence)	HPCA Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Disease associations Dystonia 2, torsion, autosomal recessive, 224500 MONDO:0009141 childhood-onset generalized dystonia adolescence-onset segmental dystonia generalized dystonia with additional neurological features Tags
Green Green List (high evidence)	HPD Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Hawkinsinuria MIM#140350 Tyrosinemia, type III MIM#276710 Disorders of phenylalanine or tyrosine metabolism Tags
Green Green List (high evidence)	HPDL Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026 Progressive neurological disorder Leigh-like syndrome Tags
Green Green List (high evidence)	HPDL Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026 Progressive neurological disorder Leigh-like syndrome Tags
Green Green List (high evidence)	HPDL Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026 Progressive neurological disorder Leigh-like syndrome Tags
Green Green List (high evidence)	HPDL Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Disease associations Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026 Progressive neurological disorder Leigh-like syndrome Tags
Green Green List (high evidence)	HPRT1 Dystonia and Chorea v1.13	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Disease associations Lesch-Nyhan syndrome Dystonia Tags
Green Green List (high evidence)	HPS1 Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Hermansky-Pudlak syndrome 1, MIM# 203300 Tags
Green Green List (high evidence)	HRAS Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Costello syndrome, MIM# 218040 Tags
Green Green List (high evidence)	HS2ST1 Miscellaneous Metabolic Disorders v2.3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194 Developmental delay and corpus callosum, skeletal, and renal abnormalities disorder of glycosaminoglycan metabolism Tags
Green Green List (high evidence)	HSD17B10 Mitochondrial disease v2.12	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Disease associations HSD10 mitochondrial disease, MIM# 300438 Tags
Green Green List (high evidence)	HSD17B10 Fatty Acid Oxidation Defects v2.0	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations HSD10 mitochondrial disease, MIM# 300438 Tags
Green Green List (high evidence)	HSD17B4 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations D-bifunctional protein deficiency, AR (MIM#261515) Perrault syndrome 1, AR (MIM#233400) Tags
Green Green List (high evidence)	HSD17B4 Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations General Leukodystrophy & Mitochondrial Leukoencephalopathy Peroxisome-Associated Disorders & Zellweger Syndrome D-bifunctional protein deficiency Tags
Green Green List (high evidence)	HSD17B4 Peroxisomal Disorders v1.8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations D-bifunctional protein deficiency, AR (MIM#261515) Perrault syndrome 1, AR (MIM#233400) Tags
Green Green List (high evidence)	HSD17B4 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Perrault syndrome 1, MONDO:0009300 d-bifunctional protein deficiency, MONDO:0009855 Tags
Green Green List (high evidence)	HSD3B7 Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Bile acid synthesis defect, congenital, 1 MIM#607765 Disorders of bile acid biosynthesis Tags
Green Green List (high evidence)	HSF1_ET_CCCCGCNCCGCCT_CCNCGCCT STR Early-onset Parkinson disease v3.33	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Expert Review Green Literature Disease associations Essential tremor, MONDO:0003233 Tags
Green Green List (high evidence)	HSPA9 Mitochondrial disease v2.12	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations Anaemia, sideroblastic, 4, MIM# 182170 Even-plus syndrome, MIM# 616854 Tags
Green Green List (high evidence)	HSPB1 Hereditary Neuropathy v3.0	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Charcot-Marie-Tooth disease axonal type 2F MONDO:0011687 Tags
Green Green List (high evidence)	HSPB8 Hereditary Neuropathy v3.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Disease associations HMSN, dHMN/dSMA Neuropathy, distal hereditary motor, type IIA, 158590 Charcot Marie Tooth disease, axonal, type 2L, 608673 Tags
Green Green List (high evidence)	HSPB8 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Disease associations Myopathy, myofibrillar, 13, with rimmed vacuoles, MIM# 621078 autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome MONDO:0018773 Tags
Green Green List (high evidence)	HSPD1 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Leukodystrophy, hypomyelinating, 4, MIM# 612233 Spastic paraplegia 13, autosomal dominant, MIM# 605280 Tags
Green Green List (high evidence)	HSPD1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Leukodystrophy, hypomyelinating, 4, MIM# 612233 Tags
Green Green List (high evidence)	HSPD1 Mitochondrial disease v2.12	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Disease associations Leukodystrophy, hypomyelinating, 4, MIM# 612233 Spastic paraplegia 13, autosomal dominant, MIM# 605280 Tags
Green Green List (high evidence)	HSPD1 Leukodystrophy v1.12	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Spastic paraplegia 13, autosomal dominant, 605280 Leukodystrophy, hypomyelinating, 4, 612233 Tags
Green Green List (high evidence)	HSPD1 Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations hypomyelinating leukodystrophy 4, MONDO:0012824 Tags
Green Green List (high evidence)	HTRA1 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations CARASIL syndrome, MONDO:0010829 Tags
Green Green List (high evidence)	HTRA1 Leukodystrophy v1.12	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Disease associations Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779 CARASIL syndrome, 600142 Tags
Green Green List (high evidence)	HTRA1 Early-onset Dementia v2.14	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations CARASIL syndrome MIM#600142 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 MIM#616779 Tags
Green Green List (high evidence)	HTRA2 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations 3-methylglutaconic aciduria, type VIII, MIM# 617248 Tags
Green Green List (high evidence)	HTRA2 Dystonia and Chorea v1.13	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations 3-methylglutaconic aciduria type 8 MONDO:0044723 Tags
Green Green List (high evidence)	HTRA2 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations 3-methylglutaconic aciduria, type VIII, MIM# 617248 Tags
Green Green List (high evidence)	HTT_HD_CAG STR Early-onset Parkinson disease v3.33	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Huntington disease MIM#143100 Tags STR
Green Green List (high evidence)	HTT_HD_CAG STR Dystonia and Chorea v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Expert list Disease associations Huntington disease MIM#143100 Tags adult-onset
Green Green List (high evidence)	HYCC1 Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Hypomyelination and Congenital Cataract Leukodystrophy, hypomyelinating, 5, 610532 Tags
Green Green List (high evidence)	IARS2 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Disease associations Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, MIM# 616007 Tags
Green Green List (high evidence)	IARS2 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, MIM# 616007 Tags
Green Green List (high evidence)	IBA57 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Multiple mitochondrial dysfunctions syndrome 3, MIM# 615330 Tags
Green Green List (high evidence)	IBA57 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Spastic paraplegia 74, autosomal recessive MIM#616451 Tags
Green Green List (high evidence)	IBA57 Leukodystrophy v1.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Multiple mitochondrial dysfunctions syndrome 3, MIM#615330 Tags
Green Green List (high evidence)	IBA57 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations hereditary spastic paraplegia 74, MONDO:0014644 Tags
Green Green List (high evidence)	IDH2 Mitochondrial disease v2.12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Disease associations D-2-hydroxyglutaric aciduria 2 MIM#613657 Tags
Green Green List (high evidence)	IDH2 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations D-2-hydroxyglutaric aciduria 2, MIM# 613657 Tags
Green Green List (high evidence)	IDH3A Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Retinitis pigmentosa 90, MIM#619007 Tags
Green Green List (high evidence)	IDH3G Mitochondrial disease v2.12	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Literature Disease associations Retinitis pigmentosa 99, MIM# 301148 Tags
Green Green List (high evidence)	IDS Lysosomal Storage Disorder v2.2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Mucopolysaccharidosis II, MIM# 309900 MONDO:0010674 Hunter syndrome Tags treatable
Green Green List (high evidence)	IDUA Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Mucopolysaccharidosis Ih, MIM# 607014 Mucopolysaccharidosis Ih/s, MIM# 607015 Mucopolysaccharidosis Is, MIM# 607016 Mucopolysaccharidosis type 1, MONDO:0001586 Tags
Green Green List (high evidence)	IER3IP1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647 Tags
Green Green List (high evidence)	IFIH1 Hereditary Spastic Paraplegia v2.111	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Disease associations Aicardi-Goutieres syndrome 7 MIM#615846 Tags
Green Green List (high evidence)	IFIH1 Brain Calcification v3.0	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Aicardi-Goutieres syndrome 7, MIM#615846 Tags
Green Green List (high evidence)	IFIH1 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Aicardi-Goutieres syndrome 7, MIM#615846 Tags
Green Green List (high evidence)	IFIH1 Leukodystrophy v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Disease associations Aicardi-Goutieres syndrome 7 MIM#615846 Tags
Green Green List (high evidence)	IGHMBP2 Hereditary Neuropathy v3.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Neuronopathy, distal hereditary motor, type VI, MIM# 604320 Charcot-Marie-Tooth disease, axonal, type 2S, MIM# 616155 Tags
Green Green List (high evidence)	IKBKG Genetic Epilepsy v2.60	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Incontinentia pigmenti, MIM# 308300 Tags
Green Green List (high evidence)	IMPDH2 Dystonia and Chorea v1.13	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with dystonia Tags
Green Green List (high evidence)	INF2 Hereditary Neuropathy v3.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Disease associations Charcot-Marie-Tooth disease, dominant intermediate E, MIM# 614455 Tags
Green Green List (high evidence)	INPP4A Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, MIM# 621354 Tags
Green Green List (high evidence)	INPP4A Hereditary Spastic Paraplegia v2.111	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, MIM# 621354 Tags
Green Green List (high evidence)	INPP4A Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092 Tags
Green Green List (high evidence)	INPP5E Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Disease associations Joubert syndrome 1 Tags
Green Green List (high evidence)	IQSEC2 Genetic Epilepsy v2.60	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Intellectual developmental disorder, X-linked 1, MIM# 309530 Neurodevelopmental disorder, X-linked, with poor or absent speech and behavioral abnormalities, MIM# 301164 Tags
Green Green List (high evidence)	IQSEC2 Ataxia v2.272	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Disease associations intellectual disability, X-linked 1, MONDO:0010656 Tags
Green Green List (high evidence)	IRF2BPL Ataxia v2.272	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Disease associations Neurodevelopmental disorder with regression, abnormal movement, loss of speech and seizures, 618088 Tags
Green Green List (high evidence)	IRF2BPL Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM# 618088 Tags
Green Green List (high evidence)	IRF2BPL Dystonia and Chorea v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 618088 Tags
Green Green List (high evidence)	Chromosome 16p11.2 deletion syndrome, proximal ISCA-37400-Loss Region Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert list Disease associations Chromosome 16p11.2 deletion syndrome, proximal, MIM# 611913 autism intellectual disability seizures Tags SV/CNV
Green Green List (high evidence)	Angelman and Prader-Willi syndromes ISCA-37404-Loss Region Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Expert list Disease associations Angelman syndrome, MIM# 105830 Prader-Willi syndrome, MIM# 176270 Tags SV/CNV
Green Green List (high evidence)	Angelman and Prader-Willi syndromes ISCA-37404-Loss Region Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Expert Review Green Expert list Disease associations Angelman syndrome, MIM# 105830 Prader-Willi syndrome, MIM# 176270 Tags SV/CNV
Green Green List (high evidence)	NPHP1 deletion ISCA-37405-Loss Region Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Disease associations Nephronophthisis 1, juvenile, MIM# 256100 Joubert syndrome 4, MIM# 609583 Senior-Loken syndrome 1, MIM# 266900 Tags SV/CNV
Green Green List (high evidence)	Chromosome 15q13.3 microdeletion syndrome ISCA-37411-Loss Region Genetic Epilepsy v2.60	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Disease associations Chromosome 15q13.3 microdeletion syndrome, MIM# 612001 intellectual disability epilepsy Tags SV/CNV
Green Green List (high evidence)	Wolf-Hirschhorn syndrome, chromosome 4p16.3 terminal deletion ISCA-37429-Loss Region Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert list Disease associations Wolf-Hirschhorn syndrome, MIM# 194190 intellectual disability growth retardation seizures dysmorphic features Tags SV/CNV
Green Green List (high evidence)	Chromosome 17q11.2 deletion syndrome, NF1 deletion syndrome ISCA-37431-Loss Region Cerebral vascular malformations v2.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Expert list Disease associations Chromosome 17q11.2 deletion syndrome, MIM#613675 NF1 deletion syndrome Tags
Green Green List (high evidence)	Chromosome 17q12 duplication syndrome ISCA-37432-Gain Region Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Expert list Disease associations Chromosome 17q12 duplication syndrome 614526 intellectual disability seizures congenital anomalies Tags
Green Green List (high evidence)	DiGeorge syndrome ISCA-37433-Loss Region Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Expert Review Green Expert list Disease associations DiGeorge syndrome MIM#188400 Tags
Green Green List (high evidence)	Chromosome 1p36 deletion syndrome ISCA-37434-Loss Region Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Expert list Disease associations Chromosome 1p36 deletion syndrome MIM#607872 intellectual disability hypotonia congenital anomalies Tags
Green Green List (high evidence)	Charcot-Marie-Tooth disease type 1A ISCA-37436-Gain Region Hereditary Neuropathy v3.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Expert list Expert list Disease associations Charcot-Marie-Tooth disease type 1A, MIM#118220 Tags
Green Green List (high evidence)	Hereditary neuropathy with liability to pressure palsies ISCA-37436-Loss Region Hereditary Neuropathy v3.0	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Expert list Expert list Disease associations Neuropathy, recurrent, with pressure palsies, MIM# 162500 Tags SV/CNV
Green Green List (high evidence)	2p21 deletion syndrome ISCA-37440-Loss Region Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert list Disease associations 2p21 deletion syndrome Hypotonia-cystinuria syndrome, MIM# 606407 Tags
Green Green List (high evidence)	Chromosome 22q11.2 deletion syndrome, DiGeorge syndrome ISCA-37446-Loss Region Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green ClinGen Disease associations Chromosome 22q11.2 deletion syndrome, distal MIM#611867 intellectual disability autism multiple congenital anomalies Tags SV/CNV
Green Green List (high evidence)	Chromosome 15q11q13 duplication syndrome ISCA-37478-Gain Region Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Expert list Disease associations Chromosome 15q11q13 duplication syndrome, MIM#608636 autism intellectual disability ataxia Tags SV/CNV
Green Green List (high evidence)	1q43q44 microdeletion syndrome ISCA-37493-Loss Region Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Expert list Disease associations 1q43q44 microdeletion syndrome intellectual disability seizures microcephaly corpus callosum abnormalities Tags SV/CNV
Green Green List (high evidence)	Chromosome Xp11.23-p11.22 duplication syndrome ISCA-46290-Gain Region Genetic Epilepsy v2.60	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Expert Review Green Expert list Disease associations Chromosome Xp11.23-p11.22 duplication syndrome MIM#300801 intellectual disability seizures Tags
Green Green List (high evidence)	Chromosome 15q13.3 microdeletion syndrome ISCA-46295-Loss Region Genetic Epilepsy v2.60	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert Review Green Expert list Disease associations Chromosome 15q13.3 microdeletion syndrome MIM#612001 intellectual disability seizures Tags
Green Green List (high evidence)	Xq28 (includes MECP2) gain ISCA-46304-Gain Region Genetic Epilepsy v2.60	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green ClinGen ClinGen Disease associations Syndromic X-linked intellectual disability Lubs type, MONDO:0010283 Tags
Green Green List (high evidence)	ISCA1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613 Tags
Green Green List (high evidence)	ISCA1 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613 Tags
Green Green List (high evidence)	ISCA1 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Disease associations Multiple mitochondrial dysfunctions syndrome 5 MIM#617613 Tags
Green Green List (high evidence)	ISCA2 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Multiple mitochondrial dysfunctions syndrome 4, MIM# 616370 Tags
Green Green List (high evidence)	ISCA2 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Multiple mitochondrial dysfunctions syndrome 4, 616370 Tags
Green Green List (high evidence)	ISCU Rhabdomyolysis and Metabolic Myopathy v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Myopathy with lactic acidosis, hereditary, MIM# 255125 Tags
Green Green List (high evidence)	ISCU Mitochondrial disease v2.12	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Disease associations Myopathy with lactic acidosis, hereditary, MIM# 255125 Tags
Green Green List (high evidence)	ISG15 Brain Calcification v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Immunodeficiency 38 with BG calcification, MIM# 616126 Tags
Green Green List (high evidence)	ITM2B Early-onset Dementia v2.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Cerebral amyloid angiopathy MONDO:0005620 Tags
Green Green List (high evidence)	ITM2B Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Royal Melbourne Hospital Disease associations Cerebellar ataxia, cataract, deafness, and dementia or psychosis Danish familial dementia Tags
Green Green List (high evidence)	ITPA Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Developmental and epileptic encephalopathy 35, MIM# 616647 Tags
Green Green List (high evidence)	ITPA Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Inosine triphosphatase deficiency MIM#613850 Developmental and epileptic encephalopathy 35 MIM#616647 Disorders of purine metabolism Tags
Green Green List (high evidence)	ITPR1 Ataxia v2.272	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations Spinocerebellar ataxia 15 MIM#606658 Spinocerebellar ataxia 29, congenital nonprogressive MIM#117360 Tags
Green Green List (high evidence)	ITPR3 Hereditary Neuropathy v3.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature Disease associations Charcot-Marie-Tooth disease, demyelinating, type 1J, MIM# 620111 Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy, MIM# 621254 Tags
Green Green List (high evidence)	JAG1 Hereditary Neuropathy v3.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature Disease associations Charcot-Marie-Tooth disease, axonal, type 2HH 619574 Tags
Green Green List (high evidence)	JAG2 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Literature Disease associations muscular dystrophy, limb-girdle, autosomal recessive 27 MONDO:0030456 Tags
Green Green List (high evidence)	JAM2 Brain Calcification v3.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Basal ganglia calcification, idiopathic, 8, autosomal recessive MIM#618824 Tags
Green Green List (high evidence)	JAM2 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations basal ganglia calcification, idiopathic, 8, autosomal recessive, MONDO:0032938 Tags
Green Green List (high evidence)	JAM3 Brain Calcification v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, MIM# 613730 Tags
Green Green List (high evidence)	JKAMP Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Disease associations Neurodevelopmental disorder with seizures and impaired intellectual and language development, MIM# 621533 Tags
Green Green List (high evidence)	JPH3_HDL2_CTG STR Early-onset Dementia v2.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Huntington disease-like 2 MIM#606438 Tags STR
Green Green List (high evidence)	JPH3_HDL2_CTG STR Early-onset Parkinson disease v3.33	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Huntington disease-like 2 MIM#606438 Tags
Green Green List (high evidence)	JPH3_HDL2_CTG STR Dystonia and Chorea v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Expert list Disease associations Huntington disease-like 2 MIM#606438 Tags adult-onset
Green Green List (high evidence)	KANSL1 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Koolen-De Vries syndrome MIM#610443 Tags
Green Green List (high evidence)	KARS1 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Leukoencephalopathy, progressive, infantile-onset, with or without deafness MIM#619147 Tags
Green Green List (high evidence)	KARS1 Leukodystrophy v1.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Leukoencephalopathy with or without deafness (LEPID), MIM#619147 Tags
Green Green List (high evidence)	KARS1 Brain Calcification v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Disease associations Leukoencephalopathy with or without deafness (LEPID), MIM#619147 Tags
Green Green List (high evidence)	KARS1 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Disease associations Leukoencephalopathy with or without deafness (LEPID), MIM#619147 Deafness, autosomal recessive 89, MIM# 613916 Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE), MIM#619196 Tags
Green Green List (high evidence)	KARS1 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations leukoencephalopathy, progressive, infantile-onset, with or without deafness, MONDO:0030893 Tags
Green Green List (high evidence)	KAT5 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB), MIM#619103 Severe global developmental delay Intellectual disability Seizures Microcephaly Behavioral abnormality Sleep disturbance Morphological abnormality of the central nervous system Short stature Oral cleft Abnormality of the face Tags
Green Green List (high evidence)	KAT6A Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Arboleda-Tham syndrome MIM#616268 Tags
Green Green List (high evidence)	KAT8 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Intellectual disability seizures autism dysmorphic features Li-Ghorbani-Weisz syndrome, MIM#618974 Tags
Green Green List (high evidence)	KATNB1 Genetic Epilepsy v2.60	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Lissencephaly 6, with microcephaly MIM#616212 Tags
Green Green List (high evidence)	KATNIP Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Joubert syndrome, MONDO:0018772 Tags
Green Green List (high evidence)	KCNA1 Genetic Epilepsy v2.60	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations Epilepsy seizures epileptic encephalopathies episodic ataxia type 1 and epilepsy Tags
Green Green List (high evidence)	KCNA1 Ataxia v2.272	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations EPISODIC ATAXIA, TYPE 1 myokymia with periodic ataxia Episodic ataxia/myokymia syndrome, 160120 Episodic ataxia/myokymia syndrome Tags
Green Green List (high evidence)	KCNA1 Brain Channelopathies v2.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Episodic ataxia/myokymia syndrome, MIM# 160120 Tags
Green Green List (high evidence)	KCNA2 Ataxia v2.272	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Royal Melbourne Hospital Disease associations Early infantile encephalopathy 32, 616366 Tags
Green Green List (high evidence)	KCNA2 Hereditary Spastic Paraplegia v2.111	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Royal Melbourne Hospital Disease associations Hereditary spastic paraplegia and ataxia Tags
Green Green List (high evidence)	KCNA2 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Early infantile encephalopathy 32, MIM#616366 Tags
Green Green List (high evidence)	KCNA3 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Disease associations Neurodevelopmental disorder, MONDO:0700092, KCNA3-related Tags
Green Green List (high evidence)	KCNA6 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Developmental and epileptic encephalopathy, MONDO:0100620, KCNA6-related Tags
Green Green List (high evidence)	KCNB1 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Epileptic encephalopathy, early infantile, 26, MIM# 616056 Tags
Green Green List (high evidence)	KCNC1 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Epilepsy, progressive myoclonic 7 (MIM#616187) Intellectual disability Movement disorders Tags
Green Green List (high evidence)	KCNC1 Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations complex neurodevelopmental disorder, MONDO:0100038 progressive myoclonic epilepsy type 7, MONDO:0014521 Tags
Green Green List (high evidence)	KCNC2 Genetic Epilepsy v2.60	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Developmental and epileptic encephalopathy 103, MIM# 619913 Tags
Green Green List (high evidence)	KCNC3 Ataxia v2.272	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations Spinocerebellar ataxia 13 MIM#605259 Tags
Green Green List (high evidence)	KCND1 Genetic Epilepsy v2.60	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder MONDO:0700092, KCND1-related Tags
Green Green List (high evidence)	KCND2 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature Disease associations Neurodevelopmental disorder MONDO:0700092, KCND2-related Tags
Green Green List (high evidence)	KCND3 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Disease associations Spinocerebellar ataxia 19, MIM#607346 Tags
Green Green List (high evidence)	KCND3 Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Disease associations Spinocerebellar ataxia 19, MIM# 607346 Tags
Green Green List (high evidence)	KCNH1 Genetic Epilepsy v2.60	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Temple-Baraitser syndrome, OMIM:611816 Zimmermann-Laband syndrome 1, OMIM:135500 Intellectual disability Encephalopathy without features of TBS/ZLS Tags
Green Green List (high evidence)	KCNH5 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Developmental and epileptic encephalopathy 112, MIM# 620537 Tags
Green Green List (high evidence)	KCNJ10 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations SESAME syndrome, MIM# 612780 Tags
Green Green List (high evidence)	KCNJ10 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Disease associations Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome SESAME syndrome, 612780 Tags
Green Green List (high evidence)	KCNJ10 Metal Metabolism Disorders v1.1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations EAST syndrome MONDO:0013005, SESAME syndrome, MIM# 612780 Disorders of magnesium metabolism Tags
Green Green List (high evidence)	KCNJ11 Genetic Epilepsy v2.60	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Diabetes mellitus, transient neonatal, 3 610582 Diabetes, permanent neonatal, with or without neurologic features 606176 Hyperinsulinemic hypoglycemia, familial, 2 601820 Tags
Green Green List (high evidence)	KCNJ2 Brain Channelopathies v2.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Andersen syndrome, MIM# 170390 Tags
Green Green List (high evidence)	KCNJ4 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, KCNJ4-related Tags
Green Green List (high evidence)	KCNK4 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 618381 Tags
Green Green List (high evidence)	KCNMA1 Dystonia and Chorea v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Expert list Disease associations Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy MIM#609446 Tags
Green Green List (high evidence)	KCNMA1 Genetic Epilepsy v2.60	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM# 609446 Cerebellar atrophy, developmental delay, and seizures, MIM# 617643 Liang-Wang syndrome, MIM# 618729 Tags
Green Green List (high evidence)	KCNMA1 Brain Channelopathies v2.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM# 609446 Tags
Green Green List (high evidence)	KCNMA1 Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Liang-Wang syndrome, MONDO:0032886 Neurodevelopmental disorder, MONDO:0700092 Tags
Green Green List (high evidence)	KCNN2 Dystonia and Chorea v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Literature Disease associations Dystonia 34, myoclonic, MIM#619724 Neurodevelopmental disorder with or without variable movement or behavioural abnormalities, MIM#619725 Tags
Green Green List (high evidence)	KCNN2 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with or without variable movement or behavioural abnormalities, MIM#619725 Tags
Green Green List (high evidence)	KCNN2 Ataxia v2.272	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with or without variable movement or behavioural abnormalities, MIM#619725 Tags
Green Green List (high evidence)	KCNQ2 Genetic Epilepsy v2.60	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Epileptic encephalopathy, early infantile, 7, 613720 Seizures, benign neonatal, 1, 121200 Tags
Green Green List (high evidence)	KCNQ2 Brain Channelopathies v2.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Myokymia, MIM# 121200 Seizures, benign neonatal, 1, MIM# 121200 Developmental and epileptic encephalopathy 7, MIM# 613720 Tags
Green Green List (high evidence)	KCNQ3 Brain Channelopathies v2.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Disease associations Seizures, benign neonatal, 2, MIM# 121201 Tags
Green Green List (high evidence)	KCNQ3 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Seizures, benign neonatal, 2, MIM# 121201 Tags
Green Green List (high evidence)	KCNQ5 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Mental retardation, autosomal dominant 46, MIM# 617601 Tags
Green Green List (high evidence)	KCNT1 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Epilepsy, nocturnal frontal lobe, 5, MIM# 615005 Epileptic encephalopathy, early infantile, 14, MIM# 614959 Tags
Green Green List (high evidence)	KCNT2 Genetic Epilepsy v2.60	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Literature Disease associations Epileptic encephalopathy, early infantile, 57, MIM#617771 Developmental and epileptic encephalopathy Tags
Green Green List (high evidence)	KCTD17 Dystonia and Chorea v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Royal Melbourne Hospital Expert Review Green Royal Melbourne Hospital Disease associations Dystonia 26, myoclonic MIM#616398 Tags
Green Green List (high evidence)	KCTD3 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Neurodevelopmental disorder MONDO:0700092, KCTD3-related Tags
Green Green List (high evidence)	KCTD7 Lysosomal Storage Disorder v2.2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations Progressive myoclonus epilepsy MONDO:0020074 Neuronal ceroid lipofuscinosis Tags
Green Green List (high evidence)	KCTD7 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726), AR Tags
Green Green List (high evidence)	KCTD7 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations progressive myoclonic epilepsy type 3, MONDO:0012721 Tags
Green Green List (high evidence)	KDM4B Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder, autosomal dominant 65, MIM# 619320 Global developmental delay, intellectual disability and neuroanatomical defects Tags
Green Green List (high evidence)	KDM5C Genetic Epilepsy v2.60	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type MIM# 300534 MONDO:0010355 Tags
Green Green List (high evidence)	KDM5C Hereditary Spastic Paraplegia v2.111	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Royal Melbourne Hospital Disease associations Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type MIM# 300534 MONDO:0010355 Tags
Green Green List (high evidence)	KIAA0586 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Joubert syndrome 23, MONDO:0014664 Tags
Green Green List (high evidence)	KICS2 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder, autosomal recessive 83, MIM# 621100 Tags new gene name
Green Green List (high evidence)	KIDINS220 Hereditary Spastic Paraplegia v2.111	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Disease associations Spastic paraplegia, intellectual disability, nystagmus, and obesity, MIM# 617296 MONDO:0015007 Tags
Green Green List (high evidence)	KIF1A Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations NESCAV syndrome, MIM# 614255 Tags
Green Green List (high evidence)	KIF1A Dystonia and Chorea v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Dystonia spastic paraplegia intellectual disability Tags
Green Green List (high evidence)	KIF1A Pain syndromes v1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Disease associations Hereditary Sensory and Autonomic Neuropathy, Type II Neuropathy, hereditary sensory, type IIC, 614213 Tags
Green Green List (high evidence)	KIF1A Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Neuropathy, hereditary sensory, type IIC, MIM# 614213 Tags
Green Green List (high evidence)	KIF1A Hereditary Spastic Paraplegia v2.111	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Spastic paraplegia 30, autosomal dominant MIM# 610357 Spastic paraplegia 30, autosomal recessive 620607 Tags
Green Green List (high evidence)	KIF1A Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092 Tags
Green Green List (high evidence)	KIF1C Ataxia v2.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Spastic ataxia 2, autosomal recessive MIM#611302 Tags
Green Green List (high evidence)	KIF1C Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Spastic ataxia 2, autosomal recessive, 611302 Spastic ataxia 2, autosomal recessive Tags
Green Green List (high evidence)	KIF21A Hereditary Neuropathy v3.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Fibrosis of extraocular muscles, congenital, 1/3B, MIM#135700 Tags
Green Green List (high evidence)	KIF2A Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Cortical dysplasia, complex, with other brain malformations 3, MIM# 615411 Tags
Green Green List (high evidence)	KIF5A Leukodystrophy v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Disease associations Myoclonus, intractable, neonatal, MIM#617235 Tags
Green Green List (high evidence)	KIF5A Hereditary Spastic Paraplegia v2.111	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Spastic paraplegia 10, autosomal dominant, MIM# 604187 Tags
Green Green List (high evidence)	KIF5A Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Disease associations Myoclonus, intractable, neonatal MIM#617235 Tags
Green Green List (high evidence)	KIF5A Motor Neurone Disease v2.29	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations {Amyotrophic lateral sclerosis, susceptibility to, 25} MIM#617921 Tags
Green Green List (high evidence)	KIF5A Hereditary Neuropathy v3.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Disease associations Spastic paraplegia 10, autosomal dominant MIM#604187 Neuropathy Tags
Green Green List (high evidence)	KIF5A Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations hereditary spastic paraplegia 10, MONDO:0011408 Tags
Green Green List (high evidence)	KIF5C Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Cortical dysplasia, complex, with other brain malformations 2, MIM# 615282 Tags
Green Green List (high evidence)	KIF7 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Koubert syndrome 12 Acrocallosal syndrome, Schinzel type Tags
Green Green List (high evidence)	KLC1 Hereditary Spastic Paraplegia v2.111	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092 Tags
Green Green List (high evidence)	KLC1 Dystonia and Chorea v1.13	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature Disease associations KLC1-related neurodevelopmental disorder, MONDO:0700092 Tags
Green Green List (high evidence)	KLC2 Hereditary Neuropathy v3.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Spastic paraplegia, optic atrophy, and neuropathy MIM#609541 Tags SV/CNV
Green Green List (high evidence)	KLC2 Hereditary Spastic Paraplegia v2.111	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Spastic paraplegia, optic atrophy, and neuropathy, MIM#609541 Tags SV/CNV
Green Green List (high evidence)	KLHL20 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities, MIM# 621390 Tags
Green Green List (high evidence)	KMT2A Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green Literature Disease associations Wiedemann-Steiner syndrome, MONDO:0011518 Tags
Green Green List (high evidence)	KMT2B Dystonia and Chorea v1.13	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Disease associations early-onset dystonia Dystonia 28, childhood-onset 617284 MONDO:0015004 Tags
Green Green List (high evidence)	KMT2B Early-onset Parkinson disease v3.33	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Dystonia 28, childhood-onset , MIM#617284 Tags
Green Green List (high evidence)	KMT2C Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Kleefstra syndrome 2, MIM# 617768 Neurodevelopmental disorder, MONDO:0700092, KMT2C-related Tags
Green Green List (high evidence)	KMT2D Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Kabuki syndrome 1 MIM#147920 Tags
Green Green List (high evidence)	KMT2E Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations O'Donnell-Luria-Rodan syndrome, MIM# 618512 Intellectual disability Autism Seizures Tags
Green Green List (high evidence)	KPNA3 Hereditary Spastic Paraplegia v2.111	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Spastic paraplegia-88 (SPG88), MIM#620106 Tags
Green Green List (high evidence)	KPTN Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Mental retardation, autosomal recessive 4, MIM#1615637 Tags
Green Green List (high evidence)	KRAS Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Oculoectodermal syndrome, somatic MIM#600268 Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic MIM#163200 Tags somatic
Green Green List (high evidence)	KRIT1 Cerebral vascular malformations v2.0	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Disease associations Cavernous malformations of CNS and retina, 116860 Cerebral cavernous malformations-1, 116860 Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860 Tags founder
Green Green List (high evidence)	KRIT1 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations MIM#116860 Cavernous malformations of CNS and retina MIM#116860 Cerebral cavernous malformations-1 MIM#116860 Tags
Green Green List (high evidence)	KY Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Disease associations Myopathy, myofibrillar, 7 (MIM#617114) Tags
Green Green List (high evidence)	KYNU Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Hydroxykynureninuria MIM#236800 Vertebral, cardiac, renal, and limb defects syndrome 2 MIM#617661 Disorders of histidine, tryptophan or lysine metabolism Tags
Green Green List (high evidence)	L1CAM Hereditary Spastic Paraplegia v2.111	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Disease associations Hereditary spastic paraplegia, 308840 MASA syndrome, 303350 X-linked hydrocephalus, 307000 Tags
Green Green List (high evidence)	L2HGDH Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations L-2-hydroxyglutaric aciduria MIM#236792 Tags
Green Green List (high evidence)	L2HGDH Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations L-2-hydroxyglutaric aciduria MIM#236792 Tags
Green Green List (high evidence)	L2HGDH Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations L-2-hydroxyglutaric aciduria, MIM# 236792 Tags
Green Green List (high evidence)	L2HGDH Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations L-2-hydroxyglutaric aciduria, MIM#236792 Tags
Green Green List (high evidence)	L2HGDH Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations L-2-hydroxyglutaric aciduria MIM#236792 organic acidurias Tags
Green Green List (high evidence)	L2HGDH Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations L-2-hydroxyglutaric aciduria, MONDO:0009370 Tags
Green Green List (high evidence)	LAMA1 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital GeneReviews Disease associations Poretti-Boltshauser syndrome Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome Tags
Green Green List (high evidence)	LAMA2 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855 Muscular dystrophy, limb-girdle, autosomal recessive 23 , MIM#618138 Tags
Green Green List (high evidence)	LAMA2 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855 Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138 Tags
Green Green List (high evidence)	LAMA2 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations LAMA2-related muscular dystrophy MONDO:0100228 Tags
Green Green List (high evidence)	LAMB1 Leukodystrophy v1.12	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Cystic leukoencephalopathy Tags
Green Green List (high evidence)	LAMC3 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Disease associations Cortical malformations, occipital, MIM#614115 Tags
Green Green List (high evidence)	LAMP2 Rhabdomyolysis and Metabolic Myopathy v2.0	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Danon disease, MIM# 300257 MONDO:0010281 Tags
Green Green List (high evidence)	LAMP2 Glycogen Storage Diseases v2.0	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Danon disease, MIM# 300257 Tags
Green Green List (high evidence)	LAMP2 Lysosomal Storage Disorder v2.2	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Danon disease, MIM# 300257 MONDO:0010281 Tags
Green Green List (high evidence)	LARGE1 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 MIM#608840 Tags
Green Green List (high evidence)	LARS1 Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Infantile liver failure syndrome 1 MIM#615438 disorder of leucine metabolism Tags
Green Green List (high evidence)	LARS1 Genetic Epilepsy v2.60	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Literature Disease associations Infantile liver failure syndrome 1, MIM# 615438 Seizures Intellectual disability Encephalopathy Tags new gene name
Green Green List (high evidence)	LARS2 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Disease associations Perrault syndrome 4 Hydrops, lactic acidosis, and sideroblastic anaemia, MIM# 617021 Leukodystrophy Tags
Green Green List (high evidence)	LARS2 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Perrault syndrome 4 Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021 Leukodystrophy Tags
Green Green List (high evidence)	LARS2 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Expert Review Green Literature Disease associations Leukodystrophy Tags
Green Green List (high evidence)	LBR Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Greenberg skeletal dysplasia MIM#215140 Disorders of sterol biosynthesis Tags
Green Green List (high evidence)	LCT Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Lactase deficiency, congenital MIM#223000 Other carbohydrate disorders Tags
Green Green List (high evidence)	LDB3 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Literature Disease associations myofibrillar myopathy 4 MONDO:0012277 Tags
Green Green List (high evidence)	LDHA Glycogen Storage Diseases v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Glycogen storage disease XI, MIM# 612933 Tags SV/CNV
Green Green List (high evidence)	LDHA Rhabdomyolysis and Metabolic Myopathy v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Glycogen storage disease XI, MIM# 612933 Tags
Green Green List (high evidence)	LDHD Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations D-lactic aciduria with susceptibility to gout MIM#245450 Tags
Green Green List (high evidence)	LETM1 Ataxia v2.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Disease associations Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089 Tags
Green Green List (high evidence)	LETM1 Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089 Tags
Green Green List (high evidence)	LETM1 Genetic Epilepsy v2.60	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Disease associations Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089 Tags
Green Green List (high evidence)	LFNG Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Spondylocostal dysostosis 3, autosomal recessive, MIM# 609813 Tags
Green Green List (high evidence)	LGI1 Genetic Epilepsy v2.60	3 reviews 3 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Epilepsy, familial temporal lobe, 1, MIM# 6000512 Developmental and epileptic encephalopathy 121, MIM# 621475 Tags
Green Green List (high evidence)	LIAS Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Hyperglycinemia, lactic acidosis, and seizures, MIM# 614462 Tags
Green Green List (high evidence)	LIAS Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Hyperglycinaemia, lactic acidosis, and seizures, MIM# 614462 Tags
Green Green List (high evidence)	LIG3 Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780 Tags
Green Green List (high evidence)	LIG3 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780 Tags
Green Green List (high evidence)	LIG3 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780 Tags
Green Green List (high evidence)	LIPA Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Cholesteryl ester storage disease, MIM# 278000 Wolman disease, MIM# 278000 Lysosomal acid lipase deficiency, MONDO:0010204 Tags treatable
Green Green List (high evidence)	LIPT1 Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Lipoyltransferase 1 deficiency, MIM#616299 Leigh-like presentation Tags
Green Green List (high evidence)	LIPT2 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Disease associations Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM# 617668 Tags
Green Green List (high evidence)	LIPT2 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM#617668 Tags
Green Green List (high evidence)	LITAF Hereditary Neuropathy v3.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Disease associations Charcot-Marie-Tooth disease, type 1C, MIM# 601098 MONDO:0010995 Tags
Green Green List (high evidence)	LMBRD2 Genetic Epilepsy v2.60	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Developmental delay with variable neurologic and brain abnormalities, MIM# 619694 Global developmental delay Intellectual disability Microcephaly Seizures Abnormality of nervous system morphology Abnormality of the eye Tags
Green Green List (high evidence)	LMNA Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Disease associations Emery-Dreifuss muscular dystrophy 2, autosomal dominant (MIM#181350) Tags
Green Green List (high evidence)	LMNB1 Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert list Expert Review Green Expert Review Green Expert Review Green Expert list Disease associations Leukodystrophy, adult-onset, autosomal dominant MIM#169500 Tags SV/CNV
Green Green List (high evidence)	LMNB1 Leukodystrophy v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Australian Genomcis Health Alliance Leukodystrophy Flagship Royal Melbourne Hospital Expert Review Green Expert Review Green Australian Genomcis Health Alliance Leukodystrophy Flagship Victorian Clinical Genetics Services Disease associations Leukodystrophy, adult-onset, autosomal dominant, MIM# 169500 Leukodystrophy, demyelinating, adult-onset, autosomal dominan, atypical, MIM#621061 Tags SV/CNV
Green Green List (high evidence)	LMNB1 upstream region LMNB1 upstream region Region Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature Disease associations Adult-onset autosomal dominant demyelinating leukodystrophy, MONDO:0008215 Tags regulatory region
Green Green List (high evidence)	LMNB1 upstream region LMNB1 upstream region Region Leukodystrophy v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature Disease associations Adult-onset autosomal dominant demyelinating leukodystrophy, MONDO:0008215 Tags regulatory region
Green Green List (high evidence)	LNPK Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090 Tags
Green Green List (high evidence)	LONP1 Mitochondrial disease v2.12	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations CODAS syndrome, MIM#600373 mitochondrial disease (MONDO:0044970), LONP1-related Tags
Green Green List (high evidence)	LONP1 Genetic Epilepsy v2.60	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations CODAS syndrome, MIM#600373 mitochondrial disease (MONDO:0044970), LONP1-related Tags
Green Green List (high evidence)	LPIN1 Fatty Acid Oxidation Defects v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Myoglobinuria, acute recurrent, autosomal recessive, MIM# 268200 Tags
Green Green List (high evidence)	LPIN1 Rhabdomyolysis and Metabolic Myopathy v2.0	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Disease associations Myoglobinuria, acute recurrent, autosomal recessive 268200 Tags
Green Green List (high evidence)	LRP10 Early-onset Dementia v2.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Expert Review Green Literature Disease associations Parkinson disease MONDO:0005180 Tags
Green Green List (high evidence)	LRP10 Early-onset Parkinson disease v3.33	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Parkinson disease MONDO:0005180 Tags
Green Green List (high evidence)	LRP12_ALS_CGG STR Motor Neurone Disease v2.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Amyotrophic lateral sclerosis MONDO:0004976 Amyotrophic lateral sclerosis 28, MIM# 620452 Tags
Green Green List (high evidence)	LRP12_OPDM1_CGG STR Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Oculopharyngodistal myopathy 1 MIM#164310 Tags
Green Green List (high evidence)	LRPPRC Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Disease associations Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) MIM#220111 Tags
Green Green List (high evidence)	LRPPRC Genetic Epilepsy v2.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) (MIM#220111) Tags
Green Green List (high evidence)	LRRK2 Early-onset Parkinson disease v3.33	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	LRRK2 Early-onset Dementia v2.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	LRSAM1 Hereditary Neuropathy v3.0	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436 MONDO:0013753 HMSN Tags
Green Green List (high evidence)	LRSAM1 Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Charcot-Marie-Tooth disease axonal type 2P, MONDO:0013753 Tags
Green Green List (high evidence)	LSS Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Alopecia-intellectual disability syndrome 4, MIM#618840 Tags
Green Green List (high evidence)	LYRM7 Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations 615838 Mitochondrial complex III deficiency, nuclear type 8 leukoencephalopathy and complex III deficiency severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle Tags
Green Green List (high evidence)	LYRM7 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex III deficiency, nuclear type 8 - MIM#615838 Tags
Green Green List (high evidence)	LYSET Lysosomal Storage Disorder v2.2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Disease associations Dysostosis multiplex, Ain-Naz type 619345 Tags new gene name
Green Green List (high evidence)	LYST Early-onset Parkinson disease v3.33	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Chediak-Higashi syndrome MONDO:0008963 Tags
Green Green List (high evidence)	LYST Hereditary Neuropathy v3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Chediak-Higashi syndrome MIM#214500 MONDO:0008963 Tags
Green Green List (high evidence)	LYST Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Chediak-Higashi syndrome, MONDO:0008963 Tags
Green Green List (high evidence)	MAB21L1 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations cerebellar, ocular, craniofacial, and genital syndrome, MONDO:0032774 Tags
Green Green List (high evidence)	MACF1 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Lissencephaly 9 with complex brainstem malformation, MIM# 618325 Tags
Green Green List (high evidence)	MADD Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations DEEAH syndrome, MIM#619004 (Developmental Delay With Endocrine, Exocrine, Autonomic, and Hematologic Abnormalities) Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia (NEDDISH), MIM# 619005 Tags
Green Green List (high evidence)	MADD Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations hereditary sensory and autonomic neuropathy (HSAN) MONDO:0015364 Tags
Green Green List (high evidence)	MAF Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Ayme-Gripp syndrome (MIM#601088) Tags
Green Green List (high evidence)	MAG Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Spastic paraplegia 75, autosomal recessive, MIM# 616680 Cerebellar ataxia Oculomotor apraxia Tags
Green Green List (high evidence)	MAG Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Spastic paraplegia 75, autosomal recessive, 616680 Cerebellar ataxia Tags
Green Green List (high evidence)	MAGT1 Congenital Disorders of Glycosylation v2.2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations Congenital disorder of glycosylation, type Icc (MIM# 301031) Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (MIM# 300853) Tags
Green Green List (high evidence)	MAN1B1 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Mental retardation, autosomal recessive 15, MIM#614202 Tags
Green Green List (high evidence)	MAN2B1 Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Mannosidosis, alpha-, types I and II, MIM# 248500 MONDO:0009561 Tags treatable
Green Green List (high evidence)	MAN2B1 Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Disease associations Alpha-mannosidosis MONDO:0009561 Tags
Green Green List (high evidence)	MAN2B1 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Disease associations Mannosidosis, alpha-, types I and II, MIM#248500 Tags
Green Green List (high evidence)	MAN2B1 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations alpha-mannosidosis, MONDO:0009561 Tags
Green Green List (high evidence)	MAN2B2 Congenital Disorders of Glycosylation v2.2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Congenital disorder of glycosylation type 1EE with or without immunodeficiency, MIM# 621140 Tags
Green Green List (high evidence)	MANBA Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Mannosidosis, beta, MIM# 248510 MONDO:0009562 Tags
Green Green List (high evidence)	MAOA Neurotransmitter Defects v2.0	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Brunner syndrome, MIM# 300615 Tags
Green Green List (high evidence)	MAP1B Genetic Epilepsy v2.60	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Intellectual disability seizures PVNH dysmorphic features Periventricular nodular heterotopia 9, MIM# 618918 Tags
Green Green List (high evidence)	MAP2K1 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Cardiofaciocutaneous syndrome 3, MIM# 615279 Tags
Green Green List (high evidence)	MAP2K2 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Cardiofaciocutaneous syndrome 4, MIM# 615280 Tags
Green Green List (high evidence)	MAP2K4 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Literature Disease associations Neurodevelopmental disorder, MONDO:0700092 Tags
Green Green List (high evidence)	MAPK8IP3 Hereditary Spastic Paraplegia v2.111	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Disease associations Neurodevelopmental disorder with or without variable brain abnormalities 618443 Tags
Green Green List (high evidence)	MAPT Leukodystrophy v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Expert Review Green Literature Disease associations semantic dementia MONDO:0010857 Tags
Green Green List (high evidence)	MAPT Early-onset Parkinson disease v3.33	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations late-onset Parkinson disease MONDO:0008199 Tags
Green Green List (high evidence)	MAPT Early-onset Dementia v2.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Supranuclear palsy, progressive (MIM# 601104) AD Supranuclear palsy, progressive atypical (MIM# 260540) AR Tags
Green Green List (high evidence)	MAPT Motor Neurone Disease v2.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations amyotrophic lateral sclerosis, MONDO:0004976 Tags
Green Green List (high evidence)	MARCHF6_FAME3_TTTCA STR Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Epilepsy, familial adult myoclonic, 3 MIM#613608 Tags
Green Green List (high evidence)	MARK2 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder, autosomal dominant 76, MIM# 621285 Tags
Green Green List (high evidence)	MARS2 Hereditary Spastic Paraplegia v2.111	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Disease associations Spastic ataxia 3, autosomal recessive MIM#611390 Tags SV/CNV
Green Green List (high evidence)	MARS2 Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Spastic ataxia 3, autosomal recessive MIM#611390 Tags SV/CNV
Green Green List (high evidence)	MARS2 Ataxia v2.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Disease associations Spastic ataxia 3, autosomal recessive MIM#611390 Tags SV/CNV
Green Green List (high evidence)	MAST1 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Disease associations Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations OMIM #618273 Tags
Green Green List (high evidence)	MAST3 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Developmental and epileptic encephalopathy 108, MIM#620115 Tags
Green Green List (high evidence)	MAST4 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder MONDO:0700092, MAST4-related Tags
Green Green List (high evidence)	MAT1A Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency MIM#250850 Methionine adenosyltransferase deficiency, autosomal recessive MIM#250850 Disorders of the metabolism of sulphur amino acids Tags
Green Green List (high evidence)	MATR3 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Disease associations distal myopathy with vocal cord weakness MONDO:0018951 Tags
Green Green List (high evidence)	MATR3 Motor Neurone Disease v2.29	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	MB Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Expert Review Green Literature Disease associations Myopathy, sarcoplasmic body MIM#620286 Tags
Green Green List (high evidence)	MBD5 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Mental retardation, autosomal dominant 1, MIM# 156200 MONDO:0007974 Tags SV/CNV
Green Green List (high evidence)	MBOAT7 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations intellectual disability MIM#617188 Tags
Green Green List (high evidence)	MBOAT7 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations complex neurodevelopmental disorder, MONDO:0100038 Tags
Green Green List (high evidence)	MCCC1 Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200 Organic acidurias Tags
Green Green List (high evidence)	MCCC2 Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations 3-Methylcrotonyl-CoA carboxylase 2 deficiency MIM#210210 Organic acidurias Tags
Green Green List (high evidence)	MCEE Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Methylmalonyl-CoA epimerase deficiency MIM#251120 Organic acidurias Tags
Green Green List (high evidence)	MCM3AP Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Disease associations Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124 Tags
Green Green List (high evidence)	MCOLN1 Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Mucolipidosis IV, MIM# 252650 MONDO:0009653 Tags SV/CNV
Green Green List (high evidence)	MCOLN1 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Mucolipidosis IV, MIM# 252650 Tags
Green Green List (high evidence)	MDGA2 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Disease associations Developmental and epileptic encephalopathy 122, MIM# 621608 Tags
Green Green List (high evidence)	MDH2 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Developmental and epileptic encephalopathy 51 MIM#617339 Tags
Green Green List (high evidence)	MDH2 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Developmental and epileptic encephalopathy 51 MIM#617339 Tags
Green Green List (high evidence)	MECP2 Genetic Epilepsy v2.60	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Rett syndrome, MIM# 312750 Intellectual developmental disorder, X-linked, syndromic 13, MIM# 300055 Encephalopathy, neonatal severe, MIM# 300673 Tags
Green Green List (high evidence)	MECP2 Early-onset Parkinson disease v3.33	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations MECP2-related disorders Rett syndrome, MIM# 312750 Mental retardation, X-linked, syndromic 13, MIM# 300055 Tags
Green Green List (high evidence)	MECR Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282 MONDO:0015003 Tags
Green Green List (high evidence)	MECR Dystonia and Chorea v1.13	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282 MONDO:0015003 Tags
Green Green List (high evidence)	MED11 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities, MIM# 620327 Tags
Green Green List (high evidence)	MED12 Genetic Epilepsy v2.60	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Ohdo syndrome, X-linked MIM#300895 Lujan-Fryns syndrome MIM#309520 Opitz-Kaveggia syndrome MIM#305450 Tags
Green Green List (high evidence)	MED13L Genetic Epilepsy v2.60	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Disease associations Impaired intellectual development and distinctive facial features with or without cardiac defects MIM#616789 Tags
Green Green List (high evidence)	MED13L Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations syndromic intellectual disability, MONDO:0000508 Tags
Green Green List (high evidence)	MED17 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM#613668 Tags
Green Green List (high evidence)	MED27 Genetic Epilepsy v2.60	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Literature Disease associations Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia MIM#619286 Tags
Green Green List (high evidence)	MED27 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, MIM# 619286 Tags
Green Green List (high evidence)	MED27 Dystonia and Chorea v1.13	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Intellectual disability cerebellar hypoplasia dystonia Tags
Green Green List (high evidence)	MED27 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, MONDO:0859137 Tags
Green Green List (high evidence)	MEF2C Leukodystrophy v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443 Tags
Green Green List (high evidence)	MEF2C Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443 MONDO:0013266 Tags 5'UTR SV/CNV
Green Green List (high evidence)	MFF Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Encephalopathy due to defective mitochondrial and peroxisomal fission 2, MIM# 617086 Tags
Green Green List (high evidence)	MFF Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Disease associations Encephalopathy due to defective mitochondrial and peroxisomal fission 2, MIM# 617086 Tags
Green Green List (high evidence)	MFF Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations encephalopathy due to defective mitochondrial and peroxisomal fission 2, MONDO:0014905 Tags
Green Green List (high evidence)	MFN2 Hereditary Neuropathy v3.0	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Charcot-Marie-Tooth disease, axonal, type 2A2A 609260 Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 617087 Hereditary motor and sensory neuropathy VIA, MIM# 601152 Tags
Green Green List (high evidence)	MFN2 Mitochondrial disease v2.12	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Disease associations Charcot-Marie-Tooth disease, axonal, type 2A2A 609260 Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 617087 Hereditary motor and sensory neuropathy VIA, MIM# 601152 Tags
Green Green List (high evidence)	MFSD8 Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Ceroid lipofuscinosis, neuronal, 7, MIM# 610951 MONDO:0012588 Macular dystrophy with central cone involvement, MIM# 616170 MONDO:0014515 Tags
Green Green List (high evidence)	MFSD8 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Ceroid lipofuscinosis, neuronal, 7 610951 Tags
Green Green List (high evidence)	MFSD8 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations neuronal ceroid lipofuscinosis 7, MONDO:0012588 Tags
Green Green List (high evidence)	MGAT2 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type IIa, MIM# 212066 MGAT2-CDG, MONDO:0008908 Tags
Green Green List (high evidence)	MGME1 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial DNA depletion syndrome 11, MIM# 615084 Tags
Green Green List (high evidence)	MGME1 Rhabdomyolysis and Metabolic Myopathy v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations mitochondrial DNA depletion syndrome 11 MONDO:0014039 Tags
Green Green List (high evidence)	MICOS13 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Combined oxidative phosphorylation deficiency 37, MIM# 618329 Tags new gene name
Green Green List (high evidence)	MICU1 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Myopathy with extrapyramidal signs, MIM# 615673 Tags founder
Green Green List (high evidence)	MICU1 Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Myopathy with extrapyramidal signs, MIM# 615673 Tags founder
Green Green List (high evidence)	MICU1 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations proximal myopathy with extrapyramidal signs, MONDO:0014300 Tags
Green Green List (high evidence)	MINPP1 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations pontocerebellar hypoplasia, MONDO:0020135 Tags
Green Green List (high evidence)	MINPP1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Pontocerebellar hypoplasia, type 16, MIM# 619527 Tags
Green Green List (high evidence)	MIPEP Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Combined oxidative phosphorylation deficiency 31, MIM# 617228 Tags
Green Green List (high evidence)	MKS1 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Disease associations Joubert syndrome 28 Tags
Green Green List (high evidence)	MLC1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Megalencephalic leukoencephalopathy with subcortical cysts (MIM#604004) Tags
Green Green List (high evidence)	MLC1 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Megalencephalic leukoencephalopathy with subcortical cysts, MIM# 604004 Tags
Green Green List (high evidence)	MLC1 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations megalencephalic leukoencephalopathy with subcortical cysts 1, MONDO:0024555 Tags
Green Green List (high evidence)	MLIP Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MIM# 620138 Tags
Green Green List (high evidence)	MLYCD Fatty Acid Oxidation Defects v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Malonyl-CoA decarboxylase deficiency, MIM# 248360 Tags treatable
Green Green List (high evidence)	MMACHC Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Royal Melbourne Hospital Expert Review Green Disease associations Methylmalonic aciduria and homocystinuria cblC type, 277400 Methylmalonic aciduria and homocystinuria, cblC type, 277400 Ataxia and hypogonadism Tags treatable
Green Green List (high evidence)	MMACHC Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Methylmalonic aciduria and homocystinuria, cblC type MIM#277400 Tags treatable
Green Green List (high evidence)	MMACHC Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations methylmalonic aciduria and homocystinuria type cblC, MONDO:0010184 Tags
Green Green List (high evidence)	MMACHC Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations methylmalonic aciduria and homocystinuria type cblC, MONDO:0010184 Tags
Green Green List (high evidence)	MMADHC Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Homocystinuria, cblD type, variant 1 MIM#277410 Methylmalonic aciduria and homocystinuria, cblD type MIM#277410 Methylmalonic aciduria, cblD type, variant 2 MIM#277410 Tags treatable
Green Green List (high evidence)	MME Hereditary Neuropathy v3.0	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green GeneReviews Royal Melbourne Hospital Royal Melbourne Hospital Disease associations Charcot-Marie-Tooth disease, axonal, type 2T, MIM# 617017 MONDO:0014866 Tags
Green Green List (high evidence)	MOCOS Metal Metabolism Disorders v1.1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations Disorders of molybdenum cofactor metabolism xanthinuria type II MONDO:0011346 Tags
Green Green List (high evidence)	MOCS1 Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Molybdenum cofactor deficiency A MIM#252150 Disorders of molybdenum cofactor metabolism Tags treatable
Green Green List (high evidence)	MOCS1 Genetic Epilepsy v2.60	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Molybdenum cofactor deficiency A, MIM# 252150 Tags treatable
Green Green List (high evidence)	MOCS1 Metal Metabolism Disorders v1.1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations Disorders of molybdenum cofactor metabolism sulfite oxidase deficiency due to molybdenum cofactor deficiency type A MONDO:0009643 Tags
Green Green List (high evidence)	MOCS2 Metal Metabolism Disorders v1.1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations sulfite oxidase deficiency due to molybdenum cofactor deficiency type B MONDO:0009644 Disorders of molybdenum cofactor metabolism Tags
Green Green List (high evidence)	MOCS2 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Molybdenum cofactor deficiency B MIM#252160 Tags
Green Green List (high evidence)	MOCS2 Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Molybdenum cofactor deficiency B MIM#252160 Disorders of molybdenum cofactor metabolism Tags
Green Green List (high evidence)	MOGS Genetic Epilepsy v2.60	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Congenital disorder of glycosylation, type IIb, MIM# 606056 Tags
Green Green List (high evidence)	MOGS Congenital Disorders of Glycosylation v2.2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type IIb, MIM# 606056 Tags
Green Green List (high evidence)	MORC2 Hereditary Neuropathy v3.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090 Tags
Green Green List (high evidence)	MORC2 Ataxia v2.272	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Axonal type CMT disease type 2Z, 616688 Cerebellar ataxia Tags
Green Green List (high evidence)	MORC2 Mitochondrial disease v2.12	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090 Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688. Tags
Green Green List (high evidence)	MPC1 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial pyruvate carrier deficiency, MIM# 614741 Tags
Green Green List (high evidence)	MPDU1 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type If, MIM# 609180 MPDU1-CDG, MONDO:0012211 Tags
Green Green List (high evidence)	MPDU1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Congenital disorder of glycosylation, type If, MIM# 609180 MPDU1-CDG, MONDO:0012211 Tags
Green Green List (high evidence)	MPI Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type Ib, MIM# 602579 MPI-CDG MONDO:0011257 Tags
Green Green List (high evidence)	MPV17 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Disease associations Charcot-Marie-Tooth disease, axonal, type 2EE, MIM# 618400 Tags
Green Green List (high evidence)	MPV17 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Charcot-Marie-Tooth disease, axonal, type 2EE, MIM# 618400 Tags
Green Green List (high evidence)	MPZ Hereditary Neuropathy v3.0	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Charcot Marie Tooth disease, dominant intermediate D, 60779 Neuropathy, congenital hypomyelinating, 605253 Charcot Marie Tooth disease, type 2J, 607736 Dejerine Sottas disease, 145900 Charcot Marie Tooth disease, type 1B, 118200 Charcot Marie Tooth disease, type 2I, 607677 HMSN Tags
Green Green List (high evidence)	MPZ Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Charcot-Marie-Tooth disease type 1B, MONDO:0007307 Tags
Green Green List (high evidence)	MRE11 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Disease associations Ataxia-Telangiectasia-Like Disorder Ataxia-telangiectasia-like disorder 1, 604391 Tags
Green Green List (high evidence)	MRM2 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Mitochondrial DNA depletion syndrome 17, MIM# 618567 Tags
Green Green List (high evidence)	MRPL3 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Combined oxidative phosphorylation deficiency 9 OMIM #614582 Tags
Green Green List (high evidence)	MRPL39 Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Combined oxidative phosphorylation deficiency-59 (COXPD59), MIM#620646 Tags
Green Green List (high evidence)	MRPL44 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Combined oxidative phosphorylation deficiency 16, MIM# 615395 Tags
Green Green List (high evidence)	MRPL49 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Combined oxidative phosphorylation deficiency 60, MIM# 621195 Tags
Green Green List (high evidence)	MRPS2 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Combined oxidative phosphorylation deficiency 36, MIM# 617950 Tags
Green Green List (high evidence)	MRPS22 Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Combined oxidative phosphorylation deficiency 5, MIM# 611719 Tags
Green Green List (high evidence)	MRPS23 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Hepatic disease Combined respiratory chain complex deficiencies Cardiomyopathy Tubulopathy Lactic acidosis Structural brain abnormalities Combined oxidative phosphorylation deficiency 46, MIM618952 Tags
Green Green List (high evidence)	MRPS34 Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Combined oxidative phosphorylation deficiency 32, MIM# 617664 Tags
Green Green List (high evidence)	MSMO1 Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834 Disorders of the metabolism of sterols MONDO:0014793 Tags
Green Green List (high evidence)	MSTO1 Ataxia v2.272	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations Myopathy, mitochondrial, and ataxia MIM#617675 Tags
Green Green List (high evidence)	MSTO1 Mitochondrial disease v2.12	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert list Disease associations Myopathy, mitochondrial, and ataxia, MIM# 617675 Tags
Green Green List (high evidence)	MT-ATP6 Mitochondrial disease v2.12	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Disease associations Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP6-related Tags mtDNA
Green Green List (high evidence)	MT-ATP6 Ataxia v2.272	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP6-related Tags mtDNA
Green Green List (high evidence)	MT-ATP6 Hereditary Neuropathy v3.0	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Literature Disease associations Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP6-related Tags mtDNA
Green Green List (high evidence)	MT-CO1 Mitochondrial disease v2.12	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Disease associations Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO1-related Tags mtDNA
Green Green List (high evidence)	MT-CO1 Genetic Epilepsy v2.60	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO1-related Tags mtDNA
Green Green List (high evidence)	MT-CO1 Ataxia v2.272	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO1-related Tags mtDNA
Green Green List (high evidence)	MT-CO2 Genetic Epilepsy v2.60	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO2-related Tags mtDNA
Green Green List (high evidence)	MT-CO2 Mitochondrial disease v2.12	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Disease associations Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO2-related Tags mtDNA
Green Green List (high evidence)	MT-CO2 Hereditary Neuropathy v3.0	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO2-related Tags mtDNA
Green Green List (high evidence)	MT-CO2 Ataxia v2.272	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO2-related Tags mtDNA
Green Green List (high evidence)	MT-CO3 Mitochondrial disease v2.12	2 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Literature Disease associations Mitochondrial disease MONDO:0044970, MT-CO3-related Tags mtDNA
Green Green List (high evidence)	MT-CO3 Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Literature Literature Disease associations Mitochondrial disease MONDO:0044970, MT-CO3-related Tags mtDNA
Green Green List (high evidence)	MT-CYB Mitochondrial disease v2.12	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Disease associations mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CYB-related Tags mtDNA
Green Green List (high evidence)	MT-CYB Ataxia v2.272	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CYB-related Tags mtDNA
Green Green List (high evidence)	MT-CYB Genetic Epilepsy v2.60	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CYB-related Tags mtDNA
Green Green List (high evidence)	MT-ND1 Mitochondrial disease v2.12	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Disease associations Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-ND1-related Tags mtDNA
Green Green List (high evidence)	MT-ND2 Mitochondrial disease v2.12	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-ND2-related Tags mtDNA
Green Green List (high evidence)	MT-ND3 Genetic Epilepsy v2.60	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Expert Review Green Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-ND3-related Tags mtDNA
Green Green List (high evidence)	MT-ND3 Mitochondrial disease v2.12	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-ND3-related Tags mtDNA
Green Green List (high evidence)	MT-ND3 Dystonia and Chorea v1.13	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Expert Review Green Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-ND3-related Tags mtDNA
Green Green List (high evidence)	MT-ND4 Genetic Epilepsy v2.60	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-ND4-related Tags mtDNA
Green Green List (high evidence)	MT-ND4 Ataxia v2.272	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-ND4-related Tags mtDNA
Green Green List (high evidence)	MT-ND4 Leukodystrophy v1.12	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-ND4-related Tags mtDNA
Green Green List (high evidence)	MT-ND4 Mitochondrial disease v2.12	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-ND4-related Tags mtDNA
Green Green List (high evidence)	MT-ND4 Hereditary Neuropathy v3.0	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-ND4-related Tags mtDNA
Green Green List (high evidence)	MT-ND5 Mitochondrial disease v2.12	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-ND5-related Tags mtDNA
Green Green List (high evidence)	MT-ND5 Rhabdomyolysis and Metabolic Myopathy v2.0	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-ND5-related Tags mtDNA
Green Green List (high evidence)	MT-ND5 Genetic Epilepsy v2.60	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-ND5-related Tags mtDNA
Green Green List (high evidence)	MT-ND5 Ataxia v2.272	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Literature Disease associations Leber hereditary optic neuropathy, MONDO:0010788 MELAS syndrome, MONDO:0010789 Mitochondrial disease, MONDO:0044970 Tags
Green Green List (high evidence)	MT-ND6 Mitochondrial disease v2.12	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-ND6-related Tags mtDNA
Green Green List (high evidence)	MT-RNR1 Mitochondrial disease v2.12	2 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-RNR1-related Tags mtDNA
Green Green List (high evidence)	MT-TA Rhabdomyolysis and Metabolic Myopathy v2.0	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TA-related Tags mtDNA
Green Green List (high evidence)	MT-TA Mitochondrial disease v2.12	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TA-related Tags mtDNA
Green Green List (high evidence)	MT-TD Mitochondrial disease v2.12	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TD-related Tags mtDNA
Green Green List (high evidence)	MT-TD Rhabdomyolysis and Metabolic Myopathy v2.0	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TD-related Tags mtDNA
Green Green List (high evidence)	MT-TE Ataxia v2.272	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TE-related Tags mtDNA
Green Green List (high evidence)	MT-TE Genetic Epilepsy v2.60	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TE-related Tags mtDNA
Green Green List (high evidence)	MT-TE Mitochondrial disease v2.12	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TE-related Tags mtDNA
Green Green List (high evidence)	MT-TE Rhabdomyolysis and Metabolic Myopathy v2.0	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TE-related Tags mtDNA
Green Green List (high evidence)	MT-TF Mitochondrial disease v2.12	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TF-related Tags mtDNA
Green Green List (high evidence)	MT-TF Genetic Epilepsy v2.60	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TF-related Tags mtDNA
Green Green List (high evidence)	MT-TF Rhabdomyolysis and Metabolic Myopathy v2.0	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TF-related Tags mtDNA
Green Green List (high evidence)	MT-TF Hereditary Neuropathy v3.0	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TF-related Tags mtDNA
Green Green List (high evidence)	MT-TG Rhabdomyolysis and Metabolic Myopathy v2.0	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TG-related Tags mtDNA
Green Green List (high evidence)	MT-TG Ataxia v2.272	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TG-related Tags mtDNA
Green Green List (high evidence)	MT-TG Hereditary Neuropathy v3.0	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TG-related Tags mtDNA
Green Green List (high evidence)	MT-TG Genetic Epilepsy v2.60	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TG-related Tags mtDNA
Green Green List (high evidence)	MT-TG Mitochondrial disease v2.12	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TG-related Tags mtDNA
Green Green List (high evidence)	MT-TH Ataxia v2.272	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TH-related Tags mtDNA
Green Green List (high evidence)	MT-TH Mitochondrial disease v2.12	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TH-related Tags mtDNA
Green Green List (high evidence)	MT-TH Genetic Epilepsy v2.60	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TH-related Tags mtDNA
Green Green List (high evidence)	MT-TI Mitochondrial disease v2.12	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TI-related Tags mtDNA
Green Green List (high evidence)	MT-TK Mitochondrial disease v2.12	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Disease associations MERRF Encephalopathy Deafness Cardiomyopathy Tags mtDNA
Green Green List (high evidence)	MT-TK Ataxia v2.272	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Literature Disease associations MERRF syndrome, MONDO:0010790 Mitochondrial disease, MONDO:0044970 Tags
Green Green List (high evidence)	MT-TL1 Ataxia v2.272	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Literature Disease associations MERRF syndrome, MONDO:0010790 Mitochondrial disease, MONDO:0044970 Tags
Green Green List (high evidence)	MT-TL1 Mitochondrial disease v2.12	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TL1-related Tags mtDNA
Green Green List (high evidence)	MT-TL2 Hereditary Neuropathy v3.0	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TL2-related Tags mtDNA
Green Green List (high evidence)	MT-TL2 Mitochondrial disease v2.12	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TL2-related Tags mtDNA
Green Green List (high evidence)	MT-TL2 Rhabdomyolysis and Metabolic Myopathy v2.0	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TL2-related Tags mtDNA
Green Green List (high evidence)	MT-TM Rhabdomyolysis and Metabolic Myopathy v2.0	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations mitochondrial disease (MONDO:0044970), MT-TM-related Tags mtDNA
Green Green List (high evidence)	MT-TM Mitochondrial disease v2.12	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Disease associations mitochondrial disease (MONDO:0044970), MT-TM-related Tags mtDNA
Green Green List (high evidence)	MT-TN Hereditary Neuropathy v3.0	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations mitochondrial disease MONDO:0044970, MT-TN related Tags
Green Green List (high evidence)	MT-TN Mitochondrial disease v2.12	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Disease associations mitochondrial disease MONDO:0044970, MT-TN related Tags
Green Green List (high evidence)	MT-TN Rhabdomyolysis and Metabolic Myopathy v2.0	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations mitochondrial disease MONDO:0044970, MT-TN related Tags
Green Green List (high evidence)	MT-TP Mitochondrial disease v2.12	2 reviews 1 green	MITOCHONDRIAL	Sources Expert Review Red Expert Review Green Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TP-related Tags mtDNA
Green Green List (high evidence)	MT-TP Rhabdomyolysis and Metabolic Myopathy v2.0	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Expert Review Red Expert Review Green Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TP-related Tags mtDNA
Green Green List (high evidence)	MT-TR Rhabdomyolysis and Metabolic Myopathy v2.0	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Expert Review Green Expert list Disease associations mitochondrial disease (MONDO:0044970), MT-TR-related Tags mtDNA
Green Green List (high evidence)	MT-TR Genetic Epilepsy v2.60	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations mitochondrial disease (MONDO:0044970), MT-TR-related Tags mtDNA
Green Green List (high evidence)	MT-TR Mitochondrial disease v2.12	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Disease associations mitochondrial disease (MONDO:0044970), MT-TR-related Tags mtDNA
Green Green List (high evidence)	MT-TS1 Mitochondrial disease v2.12	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TS1-related Tags mtDNA
Green Green List (high evidence)	MT-TS1 Genetic Epilepsy v2.60	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TS1-related Tags mtDNA
Green Green List (high evidence)	MT-TS1 Rhabdomyolysis and Metabolic Myopathy v2.0	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TS1-related Tags mtDNA
Green Green List (high evidence)	MT-TS2 Genetic Epilepsy v2.60	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TS2-related Tags mtDNA
Green Green List (high evidence)	MT-TS2 Ataxia v2.272	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TS2-related Tags mtDNA
Green Green List (high evidence)	MT-TS2 Mitochondrial disease v2.12	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TS2-related Tags mtDNA
Green Green List (high evidence)	MT-TT Mitochondrial disease v2.12	2 reviews 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TT-related Tags mtDNA
Green Green List (high evidence)	MT-TT Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TT-related Tags mtDNA
Green Green List (high evidence)	MT-TT Genetic Epilepsy v2.60	2 reviews 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TT-related Tags mtDNA
Green Green List (high evidence)	MT-TV Hereditary Neuropathy v3.0	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TV-related Tags mtDNA
Green Green List (high evidence)	MT-TV Dystonia and Chorea v1.13	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TV-related Tags mtDNA
Green Green List (high evidence)	MT-TV Mitochondrial disease v2.12	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TV-related Tags mtDNA
Green Green List (high evidence)	MT-TV Rhabdomyolysis and Metabolic Myopathy v2.0	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TV-related Tags mtDNA
Green Green List (high evidence)	MT-TV Ataxia v2.272	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TV-related Tags mtDNA
Green Green List (high evidence)	MT-TV Genetic Epilepsy v2.60	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TV-related Tags mtDNA
Green Green List (high evidence)	MT-TW Dystonia and Chorea v1.13	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TW-related Tags mtDNA
Green Green List (high evidence)	MT-TW Genetic Epilepsy v2.60	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TW-related Tags mtDNA
Green Green List (high evidence)	MT-TW Mitochondrial disease v2.12	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TW-related Tags mtDNA
Green Green List (high evidence)	MT-TW Hereditary Neuropathy v3.0	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TW-related Tags mtDNA
Green Green List (high evidence)	MT-TW Ataxia v2.272	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TW-related Tags mtDNA
Green Green List (high evidence)	MT-TY Ataxia v2.272	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TY-related Tags mtDNA
Green Green List (high evidence)	MT-TY Rhabdomyolysis and Metabolic Myopathy v2.0	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TY-related Tags mtDNA
Green Green List (high evidence)	MT-TY Hereditary Neuropathy v3.0	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TY-related Tags mtDNA
Green Green List (high evidence)	MT-TY Genetic Epilepsy v2.60	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TY-related Tags mtDNA
Green Green List (high evidence)	MT-TY Mitochondrial disease v2.12	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TY-related Tags mtDNA
Green Green List (high evidence)	MTCL1 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations slowly progressive cerebellar ataxia, mild intellectual disability, seizures in childhood and episodic pain in the lower limbs Tags
Green Green List (high evidence)	MTFMT Ataxia v2.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations Combined oxidative phosphorylation deficiency 15 MIM#614947 Mitochondrial complex I deficiency, nuclear type 27 MIM#618248 Tags
Green Green List (high evidence)	MTFMT Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Combined oxidative phosphorylation deficiency 15 22499348 23499752 614947 Tags
Green Green List (high evidence)	MTFMT Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Combined oxidative phosphorylation deficiency 15, MIM# 614947 Mitochondrial complex I deficiency, nuclear type 27, MIM# 618248 Tags
Green Green List (high evidence)	MTHFR Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Homocystinuria due to MTHFR deficiency MIM#236250 Tags
Green Green List (high evidence)	MTHFR Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Homocystinuria due to MTHFR deficiency MIM#236250 Disorders of folate metabolism and transport Tags
Green Green List (high evidence)	MTHFR Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Disease associations Homocystinuria due to MTHFR deficiency, 236250 Tags
Green Green List (high evidence)	MTHFR Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations homocystinuria due to methylene tetrahydrofolate reductase deficiency, MONDO:0009353 Tags
Green Green List (high evidence)	MTHFR Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations homocystinuria due to methylene tetrahydrofolate reductase deficiency, MONDO:0009353 Tags
Green Green List (high evidence)	MTHFR Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations homocystinuria due to methylene tetrahydrofolate reductase deficiency, MONDO:0009353 Tags
Green Green List (high evidence)	MTHFS Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367 Tags
Green Green List (high evidence)	MTM1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Myotubular myopathy, X-linked, 310400 Tags
Green Green List (high evidence)	MTMR2 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Charcot-Marie-Tooth disease, type 4B1, 601382 MONDO:0011066 Tags
Green Green List (high evidence)	MTO1 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Combined oxidative phosphorylation deficiency 10, OMIM #614702 Tags
Green Green List (high evidence)	MTO1 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Mitochondrial disease, MONDO:0044970 Tags
Green Green List (high evidence)	MTOR Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Smith-Kingsmore syndrome, MIM# 616638 Focal cortical dysplasia, type II, somatic, MIM# 607341 Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, MONDO:0100283 Tags
Green Green List (high evidence)	MTPAP Mitochondrial disease v2.12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Spastic ataxia 4, autosomal recessive 613672 Lethal encephalopathy Tags founder
Green Green List (high evidence)	MTR Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Homocystinuria-megaloblastic anemia, cblG complementation type, MIM#250940 Tags
Green Green List (high evidence)	MTRFR Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Spastic paraplegia 55, autosomal recessive, 615035 optic atrophy and spasticity, tibial muscle weakness and atrophy, peripheral neuropathy Combined oxidative phosphorylation deficiency 7, 613559 Tags new gene name
Green Green List (high evidence)	MTRFR Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Spastic paraplegia 55, autosomal recessive, MIM#615035 Combined oxidative phosphorylation deficiency 7, MIM# 613559 Tags new gene name
Green Green List (high evidence)	MTRFR Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Spastic paraplegia 55, autosomal recessive, MIM#615035 HMSN Tags new gene name
Green Green List (high evidence)	MTRR Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Homocystinuria-megaloblastic anemia, cbl E type MIM#236270 Disorders of the metabolism of sulphur amino acids Tags
Green Green List (high evidence)	MTTP Hereditary Neuropathy v3.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Abetalipoproteinemia (MIM#200100) Young onset Abetalipoproteinaemia hypocholesterloaemia leading to malabsorption of fat-soluble vitamins (vitamin E), acanthocytes, retinitis pigmentosa, progressive sensory axonal neuropathy Tags treatable
Green Green List (high evidence)	MTTP Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Disease associations Abetalipoproteinemia, 200100 Abetalipoproteinemia Tags treatable
Green Green List (high evidence)	MTX2 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Mandibuloacral dysplasia progeroid syndrome, MIM# 619127 Tags
Green Green List (high evidence)	MVK Ataxia v2.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Mevalonic aciduria 610377 Tags
Green Green List (high evidence)	MVK Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Mevalonic aciduria MIM#610377 Disorders of sterol biosynthesis Tags
Green Green List (high evidence)	MYH14 Hereditary Neuropathy v3.0	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Disease associations Peripheral neuropathy, myopathy, hoarseness, and hearing loss MIM#614369 Tags
Green Green List (high evidence)	MYH7 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Expert Review Green Expert list Disease associations Laing distal myopathy (MIM#160500) Scapuloperoneal syndrome, myopathic type (MIM#181430) Tags
Green Green List (high evidence)	MYL2 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Disease associations Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy (MIM#619424) Tags
Green Green List (high evidence)	MYORG Early-onset Parkinson disease v3.33	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Basal ganglia calcification, idiopathic, 7, autosomal recessive, OMIM #618317 Primary familial brain calcification Atypical parkinsonism Supranuclear gaze palsy Tags new gene name
Green Green List (high evidence)	MYORG Brain Calcification v3.0	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Basal ganglia calcification, idiopathic, 7, MIM#618317 Tags new gene name
Green Green List (high evidence)	MYORG Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations basal ganglia calcification, idiopathic, 7, autosomal recessive, MONDO:0032673 Tags
Green Green List (high evidence)	MYOT Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Disease associations Myopathy, myofibrillar, 3 (MIM#609200) Tags
Green Green List (high evidence)	MYT1L Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Mental retardation, autosomal dominant 39, MIM# 616521 Tags
Green Green List (high evidence)	NAA10 Genetic Epilepsy v2.60	5 reviews 3 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations NAA10-related syndrome MONDO:0100124 Tags
Green Green List (high evidence)	NAA15 Dystonia and Chorea v1.13	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities - MIM#617787 Tags
Green Green List (high evidence)	NAA60 Brain Calcification v3.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Disease associations Basal ganglia calcification, idiopathic, 9, autosomal recessive, MIM# 620786 Tags
Green Green List (high evidence)	NACC1 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination - MIM#617393 Tags
Green Green List (high evidence)	NACC1 Dystonia and Chorea v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations chorea dystonia epilepsy microcephaly cataracts dysautonomia iron deficiency anemia stereotypies Tags
Green Green List (high evidence)	NADK2 Fatty Acid Oxidation Defects v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations 2,4-dienoyl-CoA reductase deficiency, MIM# 616034 Tags
Green Green List (high evidence)	NADK2 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations 2,4-dienoyl-CoA reductase deficiency, MIM# 616034 Tags
Green Green List (high evidence)	NAGA Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Kanzaki disease, MIM# 609242 Schindler disease, type I and type II 609241 alpha-N-acetylgalactosaminidase deficiency MONDO:0017779 Tags
Green Green List (high evidence)	NAGA Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Kanzaki disease, MIM#609242 Tags
Green Green List (high evidence)	NAGLU Lysosomal Storage Disorder v2.2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920 MONDO:0009656 Charcot-Marie-Tooth disease, axonal, type 2V MIM#616491 MONDO:0014665 Tags
Green Green List (high evidence)	NAGLU Genetic Epilepsy v2.60	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert list Expert Review Amber Royal Melbourne Hospital Disease associations Mucopolysaccharidosis type IIIB (Sanfilippo B) - 252920 Seizures Tags
Green Green List (high evidence)	NALCN Genetic Epilepsy v2.60	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Congenital contractures of the limbs and face, hypotonia, and developmental delay - MIM#616266 Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 - MIM#615419 Tags
Green Green List (high evidence)	NAPB Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Developmental and epileptic encephalopathy 107 MIM#620033 Tags
Green Green List (high evidence)	NARS1 Genetic Epilepsy v2.60	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG), MIM#619091 Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG), MIM#619092 Abnormal muscle tone Microcephaly Global developmental delay Intellectual disability Seizures Ataxia Abnormality of the face Demyelinating peripheral neuropathy Tags new gene name
Green Green List (high evidence)	NARS1 Hereditary Neuropathy v3.0	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG), MIM#619091 Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG), MIM#619092 Abnormal muscle tone Microcephaly Global developmental delay Intellectual disability Seizures Ataxia Abnormality of the face Demyelinating peripheral neuropathy Tags new gene name
Green Green List (high evidence)	NARS1 Ataxia v2.272	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092 neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, MONDO:0100348 neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, MONDO:0030837 Tags
Green Green List (high evidence)	NARS2 Genetic Epilepsy v2.60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Combined oxidative phosphorylation deficiency 24 - MIM#616239 Tags
Green Green List (high evidence)	NARS2 Mitochondrial disease v2.12	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Combined oxidative phosphorylation deficiency 24 - MIM#616239 Deafness, autosomal recessive 94 - MIM#618434 Tags
Green Green List (high evidence)	NAXD Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321 Tags
Green Green List (high evidence)	NAXD Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2, 618321 Tags
Green Green List (high evidence)	NAXE Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, MIM#617186 Tags
Green Green List (high evidence)	NAXE Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, MIM# 617186 Tags
Green Green List (high evidence)	NAXE Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1, MONDO:0020781 Tags
Green Green List (high evidence)	NBEA Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157 Intellectual disability Seizures Tags
Green Green List (high evidence)	NCDN Genetic Epilepsy v2.60	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with infantile epileptic spasms (NEDIES), MIM#619373 Tags
Green Green List (high evidence)	NCKAP1 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genetic Health Queensland Disease associations Neurodevelopmental disorder (MONDO#0700092), NCKAP1-related Tags
Green Green List (high evidence)	NCOR1 Genetic Epilepsy v2.60	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Literature Expert Review Green Expert Review Green Literature Disease associations complex neurodevelopmental disorder, MONDO:0100038 Tags
Green Green List (high evidence)	NDC1 Hereditary Neuropathy v3.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima, MIM# 621328 Tags
Green Green List (high evidence)	NDE1 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Microcephaly with lissencephaly and/or hydranencephaly, MONDO:0700116 Tags
Green Green List (high evidence)	NDRG1 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Charcot Marie Tooth disease, type 4D, MIM#601455 MONDO:0011085 Tags founder
Green Green List (high evidence)	NDST1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Mental retardation, autosomal recessive 46 - MIM#616116 Tags
Green Green List (high evidence)	NDUFA1 Genetic Epilepsy v2.60	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Mitochondrial complex I deficiency, nuclear type 12 MIM#301020 Tags
Green Green List (high evidence)	NDUFA1 Mitochondrial disease v2.12	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex I deficiency, nuclear type 12 MIM#301020 Tags
Green Green List (high evidence)	NDUFA10 Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex I deficiency, nuclear type 22 - MIM#618243 Tags
Green Green List (high evidence)	NDUFA12 Mitochondrial disease v2.12	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex I deficiency, nuclear type 23 618244 Tags
Green Green List (high evidence)	NDUFA13 Mitochondrial disease v2.12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex I deficiency, nuclear type 28, MIM# 618249 Tags
Green Green List (high evidence)	NDUFA13 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations mitochondrial complex I deficiency, nuclear type 28, MONDO:0032632 Tags
Green Green List (high evidence)	NDUFA13 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations mitochondrial complex I deficiency, nuclear type 28, MONDO:0032632 Tags
Green Green List (high evidence)	NDUFA2 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235 Tags
Green Green List (high evidence)	NDUFA3 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Mitochondrial disease, MONDO:0044970,NDUFA3-related Tags
Green Green List (high evidence)	NDUFA5 Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Mitochondrial disease, MONDO:0044970, NDUFA5-related Tags
Green Green List (high evidence)	NDUFA6 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Mitochondrial complex I deficiency, nuclear type 33, MIM# 618253 Tags
Green Green List (high evidence)	NDUFA9 Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex I deficiency, nuclear type 26 Tags
Green Green List (high evidence)	NDUFAF1 Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex I deficiency, nuclear type 11 - MIM#618234 Tags
Green Green List (high evidence)	NDUFAF1 Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	NDUFAF2 Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex I deficiency, nuclear type 10 - MIM#618233 Tags
Green Green List (high evidence)	NDUFAF2 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Mitochondrial complex I deficiency, nuclear type 10 - MIM#618233 Tags
Green Green List (high evidence)	NDUFAF3 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex I deficiency, nuclear type 18 - MIM#618240 Tags
Green Green List (high evidence)	NDUFAF3 Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Mitochondrial complex I deficiency 252010 Tags
Green Green List (high evidence)	NDUFAF4 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex I deficiency, nuclear type 15 - MIM#618237 Tags
Green Green List (high evidence)	NDUFAF5 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Mitochondrial complex I deficiency, nuclear type 3 MIM#618224 Tags
Green Green List (high evidence)	NDUFAF5 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex I deficiency, nuclear type 3 MIM#618224 Tags
Green Green List (high evidence)	NDUFAF6 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex I deficiency, nuclear type 17 (MIM#618239) Tags
Green Green List (high evidence)	NDUFAF8 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Leigh syndrome Tags
Green Green List (high evidence)	NDUFB10 Mitochondrial disease v2.12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations fatal infantile lactic acidosis cardiomyopathy Mitochondrial complex I deficiency nuclear type 35 (MC1DN35), MIM#619003 Tags
Green Green List (high evidence)	NDUFB11 Mitochondrial disease v2.12	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952) MONDO:0010494 Mitochondrial complex I deficiency, nuclear type 30, XLR (MIM#301021) MONDO:0026721 Tags
Green Green List (high evidence)	NDUFB3 Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex I deficiency, nuclear type 25, MIM# 618246 MONDO:0032629 Tags
Green Green List (high evidence)	NDUFB7 Mitochondrial disease v2.12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Mitochondrial complex I deficiency nuclear type 39 (MC1DN39), MIM#620135 Tags
Green Green List (high evidence)	NDUFB8 Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex I deficiency, nuclear type 32 - MIM#618252 Tags
Green Green List (high evidence)	NDUFS1 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226 Tags
Green Green List (high evidence)	NDUFS1 Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Mitochondrial complex I deficiency General Leukodystrophy & Mitochondrial Leukoencephalopathy Mitochondrial complex I disorders MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	NDUFS2 Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Mitochondrial complex I disorders Leigh syndrome Mitochondrial Leukoencephalopathy Leigh syndrome associated with mitochondrial complex I deficiency Tags
Green Green List (high evidence)	NDUFS2 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228 Tags
Green Green List (high evidence)	NDUFS3 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230 Tags
Green Green List (high evidence)	NDUFS4 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Mitochondrial complex I deficiency, nuclear type 1 - MIM#252010 Tags
Green Green List (high evidence)	NDUFS4 Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex I deficiency, nuclear type 1, 252010 Leigh syndrome, MIM#252010 Tags
Green Green List (high evidence)	NDUFS4 Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Mitochondrial complex I deficiency Mitochondrial complex I disorders MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	NDUFS6 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex I deficiency, nuclear type 9 - MIM#618232 Tags
Green Green List (high evidence)	NDUFS6 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations peripheral neuropathy MONDO:0020127 Tags
Green Green List (high evidence)	NDUFS7 Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations General Leukodystrophy & Mitochondrial Leukoencephalopathy Mitochondrial respiratory chain complex I deficiency Leigh syndrome Genetic leukoencephalopathies: mitochondrial disorders Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	NDUFS7 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex I deficiency, nuclear type 3 (MIM# 618224) Tags
Green Green List (high evidence)	NDUFS8 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex I deficiency, nuclear type 2 MIM#618222 Tags
Green Green List (high evidence)	NDUFS8 Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Mitochondrial complex I disorders Leigh syndrome due to mitochondrial complex I deficiency Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	NDUFS8 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Mitochondrial complex I deficiency, nuclear type 2 MIM#618222 Tags
Green Green List (high evidence)	NDUFV1 Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	NDUFV1 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Mitochondrial complex I deficiency, nuclear type 4 MIM#618225 Tags
Green Green List (high evidence)	NDUFV1 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex I deficiency, nuclear type 4 MIM#618225 Tags
Green Green List (high evidence)	NDUFV2 Mitochondrial disease v2.12	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex I deficiency, nuclear type 7 (MIM#618229) Tags deep intronic founder
Green Green List (high evidence)	NDUFV2 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Mitochondrial complex I deficiency, nuclear type 7 (MIM#618229) Tags
Green Green List (high evidence)	NEB Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	5 reviews 4 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Disease associations autosomal dominant nebulin-related myopathy, MONDO:1010152 Tags
Green Green List (high evidence)	NEDD4L Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Periventricular nodular heterotopia 7, MIM#617201 Tags
Green Green List (high evidence)	NEFH Hereditary Neuropathy v3.0	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Disease associations Charcot-Marie-Tooth disease, axonal, type 2CC, MIM#616924 Tags
Green Green List (high evidence)	NEFL Hereditary Neuropathy v3.0	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Charcot Marie Tooth disease, type 2E, 607684 Charcot-Marie-Tooth disease, dominant intermediate G, 617882 HMSN Charcot Marie Tooth disease, type 1F, 607734 Tags
Green Green List (high evidence)	NEK1 Motor Neurone Disease v2.29	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Disease associations Amyotrophic lateral sclerosis, susceptibility to, 24 MIM#617892 Tags
Green Green List (high evidence)	NEMF Hereditary Neuropathy v3.0	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, MIM# 619099 Intellectual disability neuropathy Tags
Green Green List (high evidence)	NEU1 Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Sialidosis, type I and type II, MIM# 256550 MONDO:0009738 Tags
Green Green List (high evidence)	NEU1 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations Sialidosis, type I/II MIM#256550 Tags
Green Green List (high evidence)	NEU1 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations sialidosis type 1, MONDO:0019346 Tags
Green Green List (high evidence)	NEUROD2 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Epileptic encephalopathy, early infantile, 72, MIM# 618374 Tags
Green Green List (high evidence)	NEXMIF Genetic Epilepsy v2.60	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Mental retardation, X-linked 98, MIM# 300912 Tags
Green Green List (high evidence)	NF1 Cerebral vascular malformations v2.0	4 reviews 3 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Disease associations Moyamoya disease Neurofibromatosis, type 1 162200 Tags
Green Green List (high evidence)	NFE2L2 Leukodystrophy v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Immunodeficiency, developmental delay, and hypohomocysteinemia MONDO:0060591 Disorders of glutathione metabolism Tags
Green Green List (high evidence)	NFS1 Mitochondrial disease v2.12	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Combined oxidative phosphorylation deficiency 52, MIM#619386 Complex II/III deficiency multisystem organ failure Tags
Green Green List (high evidence)	NFU1 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Multiple mitochondrial dysfunctions syndrome 1, MIM#605711 Tags
Green Green List (high evidence)	NFU1 Hereditary Spastic Paraplegia v2.111	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Multiple mitochondrial dysfunctions syndrome 1 (MIM#605711) Spastic paraplegia 93, autosomal recessive, MIM# 620938 Tags
Green Green List (high evidence)	NFU1 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711 Tags
Green Green List (high evidence)	NGF Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Neuropathy, hereditary sensory and autonomic, type V, MIM# 608654 MONDO:0012092 Tags
Green Green List (high evidence)	NGF Pain syndromes v1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Disease associations Neuropathy, hereditary sensory and autonomic, type V, 608654 HSAN 5 Congenital sensory neuropathy with selective loss of small myelinated fibers Hereditary sensory neuropathy type V Tags
Green Green List (high evidence)	NGLY1 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Congenital disorder of deglycosylation 1 (CDDG1) (MIM#615273) Developmental delay, choreoathetosis, alacrimia, seizures, microcephaly, transaminitis, neuropathy Tags
Green Green List (high evidence)	NGLY1 Genetic Epilepsy v2.60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Congenital disorder of deglycosylation, MIM# 615273 Tags
Green Green List (high evidence)	NGLY1 Congenital Disorders of Glycosylation v2.2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Congenital disorder of deglycosylation, MIM# 615273 alacrima, movement disorder, microcephaly, abnormal LFTs Tags
Green Green List (high evidence)	NHLRC1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Epilepsy, progressive myoclonic 2B (Lafora) 254780 Tags
Green Green List (high evidence)	NHLRC1 Glycogen Storage Diseases v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Epilepsy, progressive myoclonic 2B (Lafora) 254780 Tags
Green Green List (high evidence)	NHLRC1 Early-onset Dementia v2.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Epilepsy, progressive myoclonic 2B (Lafora Disease) MIM#254780 Tags
Green Green List (high evidence)	NHLRC1 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Disease associations Progressive myoclonic epilepsy 2B, Lafora, 254780 Epilepsy, progressive myoclonic 2B (Lafora) 254780 Tags
Green Green List (high evidence)	NIPA1 Hereditary Spastic Paraplegia v2.111	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Spastic paraplegia 6, autosomal dominant, MIM# 600363 Tags
Green Green List (high evidence)	NIPA1 Hereditary Neuropathy v3.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Disease associations Spastic paraplegia 6 Tags
Green Green List (high evidence)	NIT1 Dystonia and Chorea v1.13	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Literature Disease associations Brain small vessel disease 4, MIM# 621313 Tags
Green Green List (high evidence)	NKX2-1 Ataxia v2.272	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978 Choreoathetosis, hypothyroidism and neonatal respiratory distress, 610978 Chorea, hereditary benign 118700 Hereditary bening chorea, 118700 Tags
Green Green List (high evidence)	NKX2-1 Dystonia and Chorea v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Chorea, hereditary benign MIM#118700 Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978 Tags
Green Green List (high evidence)	NKX6-2 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 MONDO:0033043 Tags
Green Green List (high evidence)	NKX6-2 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Disease associations Autosomal recessive spastic ataxia 8 with hypomyelinating leukodystrophy, 617560 Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560 Tags
Green Green List (high evidence)	NKX6-2 Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560 Tags
Green Green List (high evidence)	NKX6-2 Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy MIM#617560 Tags
Green Green List (high evidence)	NNT Mitochondrial disease v2.12	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency MIM#614736 Tags
Green Green List (high evidence)	NOP56_SCA36_GGCCTG STR Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Expert list Disease associations Spinocerebellar ataxia 36 MIM#614153 Tags STR
Green Green List (high evidence)	NOTCH1 Leukodystrophy v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Genetic cerebral small vessel disease (MONDO:0018787), NOTCH1-related Tags
Green Green List (high evidence)	NOTCH1 Brain Calcification v3.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature Disease associations Genetic cerebral small vessel disease (MONDO:0018787), NOTCH1-related Tags
Green Green List (high evidence)	NOTCH1 Hereditary Spastic Paraplegia v2.111	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Genetic cerebral small vessel disease (MONDO:0018787), NOTCH1-related Tags
Green Green List (high evidence)	NOTCH2NLC_NIID_GGC STR Hereditary Neuropathy v3.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neuronal intranuclear inclusion disease MIM#603472 Oculopharyngodistal myopathy 3 MIM#619473 Tremor, hereditary essential, 6 MIM#618866 Tags
Green Green List (high evidence)	NOTCH2NLC_NIID_GGC STR Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert list Disease associations Neuronal intranuclear inclusion disease MIM#603472 Oculopharyngodistal myopathy 3 MIM#619473 Tremor, hereditary essential, 6 MIM#618866 Tags adult-onset
Green Green List (high evidence)	NOTCH2NLC_NIID_GGC STR Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Neuronal intranuclear inclusion disease MIM#603472 Oculopharyngodistal myopathy 3 MIM#619473 Tremor, hereditary essential, 6 MIM#618866 Tags
Green Green List (high evidence)	NOTCH2NLC_NIID_GGC STR Leukodystrophy v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Expert Review Green Literature Disease associations Neuronal intranuclear inclusion disease MIM#603472 Oculopharyngodistal myopathy 3 MIM#619473 Tremor, hereditary essential, 6 MIM#618866 Tags
Green Green List (high evidence)	NOTCH2NLC_NIID_GGC STR Early-onset Dementia v2.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neuronal intranuclear inclusion disease MIM#603472 Oculopharyngodistal myopathy 3 MIM#619473 Tremor, hereditary essential, 6 MIM#618866 Tags
Green Green List (high evidence)	NOTCH2NLC_NIID_GGC STR Early-onset Parkinson disease v3.33	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neuronal intranuclear inclusion disease MIM#603472 Oculopharyngodistal myopathy 3 MIM#619473 Tremor, hereditary essential, 6 MIM#618866 Tags
Green Green List (high evidence)	NOTCH3 Early-onset Dementia v2.14	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 125310 Tags
Green Green List (high evidence)	NOTCH3 Genetic Epilepsy v2.60	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert list Disease associations neurodevelopmental disorder MONDO:0700092, NOTCH3-related Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 - 125310 Tags
Green Green List (high evidence)	NOTCH3 Leukodystrophy v1.12	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Disease associations neurodevelopmental disorder MONDO:0700092, NOTCH3-related Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 MIM#125310 Tags
Green Green List (high evidence)	NOTCH3 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092 Tags
Green Green List (high evidence)	NOVA2 Genetic Epilepsy v2.60	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, MIM# 618859 Tags
Green Green List (high evidence)	NOVA2 Ataxia v2.272	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Literature Disease associations Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, OMIM #618859 Tags
Green Green List (high evidence)	NPC1 Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Niemann-Pick disease, type C1 and type D, MIM# 257220 MONDO:0009757 Tags
Green Green List (high evidence)	NPC1 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Niemann-Pick disease type C1, 257220 Niemann-Pick disease types C1 and D (#257220) Tags
Green Green List (high evidence)	NPC1 Early-onset Parkinson disease v3.33	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Niemann-Pick disease, MIM# 257220 Parkinsonism Tags
Green Green List (high evidence)	NPC1 Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Niemann-Pick disease, type C1 MONDO:0009757 Tags
Green Green List (high evidence)	NPC1 Early-onset Dementia v2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Niemann-Pick disease, type C1 (MIM#257220 MONDO:0009757) Tags
Green Green List (high evidence)	NPC1 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Niemann-Pick disease, type C1/D, MIM# 257220 Tags
Green Green List (high evidence)	NPC2 Early-onset Dementia v2.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Niemann-pick disease, type C2 MIM#607625 Tags
Green Green List (high evidence)	NPC2 Early-onset Parkinson disease v3.33	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Niemann Pick C2, OMIM 607625 Parkinsonism Tags
Green Green List (high evidence)	NPC2 Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Niemann-pick disease, type C2, MIM# 607625 MONDO:0011873 Tags
Green Green List (high evidence)	NPC2 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Disease associations Niemann-Pick disease type C2, 607625 Niemann-Pick disease type C2 (#607625) Tags
Green Green List (high evidence)	NPC2 Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Niemann-Pick disease, type C2 MONDO:0011873 Dystonia Tags
Green Green List (high evidence)	NPHP1 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Disease associations Joubert syndrome 4 Tags
Green Green List (high evidence)	NPRL2 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Epilepsy, familial focal, with variable foci 2 617116 focal seizures frontal lobe epilepsy nocturnal frontal lobe epilepsy temporal lobe epilepsy focal cortical dysplasia Tags
Green Green List (high evidence)	NPRL3 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Epilepsy, familial focal, with variable foci 3- MIM#617118 Tags
Green Green List (high evidence)	NPTX1 Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Expert Review Green Literature Disease associations cerebellar ataxia MONDO#0000437, NPTX1-related Tags
Green Green List (high evidence)	NR2F1 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722 Tags
Green Green List (high evidence)	NR4A2 Dystonia and Chorea v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, MIM# 619911 Tags
Green Green List (high evidence)	NR4A2 Early-onset Parkinson disease v3.33	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, MIM# 619911 Tags
Green Green List (high evidence)	NR4A2 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, MIM# 619911 Tags
Green Green List (high evidence)	NRCAM Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder with neuromuscular and skeletal abnormalities, MONDO:0859236 Tags
Green Green List (high evidence)	NRCAM Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder with neuromuscular and skeletal abnormalities, MONDO:0859236 Tags
Green Green List (high evidence)	NRDC Genetic Epilepsy v2.60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, NRDC-related Tags
Green Green List (high evidence)	NRROS Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Disease associations neurodegeneration intracranial calcification epilepsy Tags
Green Green List (high evidence)	NRROS Brain Calcification v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations neurodegeneration intracranial calcification epilepsy Tags
Green Green List (high evidence)	NRXN1 Genetic Epilepsy v2.60	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Literature Expert Review Green Disease associations Pitt-Hopkins-like syndrome 2 - MIM#614325 Complex neurodevelopmental disorder, MONDO:0100038, NRXN1-related Tags
Green Green List (high evidence)	NSD1 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Sotos syndrome 1 (MIM#117550), AD Tags
Green Green List (high evidence)	NSDHL Genetic Epilepsy v2.60	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations CK syndrome (MIM#300831) Tags
Green Green List (high evidence)	NSDHL Miscellaneous Metabolic Disorders v2.3	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green NHS GMS Disease associations CHILD syndrome MIM#308050 Disorders of sterol biosynthesis Tags
Green Green List (high evidence)	NSF Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Developmental and epileptic encephalopathy 96, MIM# 619340 Seizures EEG with burst suppression Global developmental delay Intellectual disability Tags
Green Green List (high evidence)	NSRP1 Genetic Epilepsy v2.60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert list Disease associations Epilepsy Cerebral palsy microcephaly Intellectual disability Tags
Green Green List (high evidence)	NSRP1 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder with spasticity, seizures, and brain abnormalities, MONDO:0859275 Tags
Green Green List (high evidence)	NSUN3 Mitochondrial disease v2.12	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Combined oxidative phosphorylation deficiency 48, MIM# 619012 Tags
Green Green List (high evidence)	NT5C2 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Spastic paraplegia 45, autosomal recessive, MIM# 613162 MONDO:0013165 Tags
Green Green List (high evidence)	NT5C3A Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Anemia, hemolytic, due to UMPH1 deficiency MIM#266120 disorder of pyrimidine metabolism Tags
Green Green List (high evidence)	NTRK1 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations hereditary sensory and autonomic neuropathy type 4 MONDO:0009746 Tags
Green Green List (high evidence)	NTRK1 Pain syndromes v1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Disease associations HSAN 4 Insensitivity to pain, congenital, with anhidrosis, 256800 Hereditary sensory neuropathy type IV Tags
Green Green List (high evidence)	NTRK2 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Epileptic encephalopathy, early infantile, 58, MIM# 617830 Tags
Green Green List (high evidence)	NUBPL Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex I deficiency, nuclear type 21 - MIM#618242 Tags
Green Green List (high evidence)	NUBPL Ataxia v2.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Mitochondrial complex I deficiency, nuclear type 21, OMIM # 618242 Tags
Green Green List (high evidence)	NUBPL Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Mitochondrial complex I deficiency Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	NUDT2 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Muscular hypotonia Global developmental delay Intellectual disability Polyneuropathy Tags
Green Green List (high evidence)	NUDT2 Brain Calcification v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Disease associations Intellectual developmental disorder with or without peripheral neuropathy MIM#619844 Tags
Green Green List (high evidence)	NUP214 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Disease associations Encephalopathy, acute, infection-induced, susceptibility to, 9, MIM# 618426 epileptic encephalopathy developmental regression microcephaly Tags
Green Green List (high evidence)	NUS1 Early-onset Parkinson disease v3.33	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder, autosomal dominant 55, with seizures, MIM# 617831 Parkinsonism Developmental delay Intellectual disability Ataxia Myoclonus Tags
Green Green List (high evidence)	NUS1 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Mental retardation, autosomal dominant 55, with seizures, MIM# 617831 Tags
Green Green List (high evidence)	NUS1 Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Epilepsy, myoclonus, ataxia and scoliosis Mental retardation, autosomal dominant 55, with seizures, 617831 Tags
Green Green List (high evidence)	NUTM2B-AS1_OPDM_CCG STR Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Oculopharyngodistal myopathy MONDO:0025193 Tags
Green Green List (high evidence)	OAT Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Gyrate atrophy of choroid and retina with or without ornithinemia - MIM#258870 Tags
Green Green List (high evidence)	OBSCN Rhabdomyolysis and Metabolic Myopathy v2.0	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Disease associations Rhabdomyolysis, MONDO:0005290, OBSCN-related Tags
Green Green List (high evidence)	OCLN Brain Calcification v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Pseudo-TORCH syndrome 1, MIM#251290 Tags
Green Green List (high evidence)	OCLN Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Pseudo-TORCH syndrome 1, MIM#251290 Tags
Green Green List (high evidence)	OFD1 Ataxia v2.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Joubert syndrome 10 Tags
Green Green List (high evidence)	OGDH Mitochondrial disease v2.12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Oxoglutarate dehydrogenase deficiency, MIM# 203740 Developmental delay ataxia seizure raised lactate Tags
Green Green List (high evidence)	OGDHL Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Disease associations Yoon-Bellen neurodevelopmental syndrome, MIM# 619701 Neurodevelopmental disorder featuring epilepsy, hearing loss, visual impairment, and ataxia Tags
Green Green List (high evidence)	OGDHL Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Yoon-Bellen neurodevelopmental syndrome, MONDO:0859221 Tags
Green Green List (high evidence)	OGT Congenital Disorders of Glycosylation v2.2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Disease associations Mental retardation, X-linked 106, MIM# 300997 Tags
Green Green List (high evidence)	OPA1 Ataxia v2.272	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations OPA1-related optic atrophy with or without extraocular features, MONDO:0800181 Tags
Green Green List (high evidence)	OPA1 Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert list Disease associations optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy MONDO:0007429 Tags
Green Green List (high evidence)	OPA1 Hereditary Neuropathy v3.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Disease associations Optic atrophy plus syndrome (MIM#125250) Tags
Green Green List (high evidence)	OPA1 Mitochondrial disease v2.12	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations OPA1-related optic atrophy with or without extraocular features, MONDO:0800181 Tags
Green Green List (high evidence)	OPA1 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Behr syndrome, MONDO:0008858 OPA1-related optic atrophy with or without extraocular features, MONDO:0800181 Syndromic disease, MONDO:0002254 autosomal dominant optic atrophy plus syndrome, MONDO:0014720 Tags
Green Green List (high evidence)	OPA3 Hereditary Neuropathy v3.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Optic atrophy 3 MONDO:0008133 Tags
Green Green List (high evidence)	OPA3 Dystonia and Chorea v1.13	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations 3-methylglutaconic aciduria, type III, MIM# 258501 developmental delay, hypotonia dystonia and chorea ataxia, optic atrophy spastic paraplegia Tags
Green Green List (high evidence)	OPA3 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Disease associations 3-methylglutaconic aciduria, type III, 258501 Optic atrophy 3 with cataract, 165300 3-methylglutaconic aciduria type III, 258501 Costeff syndrome Tags
Green Green List (high evidence)	OPA3 Mitochondrial disease v2.12	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Disease associations 3-methylglutaconic aciduria, type III (MGA3) (MIM#258501), AR Optic atrophy 3 with cataract (MIM#165300), AD Tags
Green Green List (high evidence)	OPA3 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations 3-methylglutaconic aciduria, type III, MIM# 258501 Tags
Green Green List (high evidence)	OPHN1 Ataxia v2.272	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert list Royal Melbourne Hospital Disease associations X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance, 300486 Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 Tags
Green Green List (high evidence)	OPHN1 Genetic Epilepsy v2.60	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, MIM#300486 Tags
Green Green List (high evidence)	OPTN Early-onset Dementia v2.14	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia (MIM#613435) Tags
Green Green List (high evidence)	OPTN Motor Neurone Disease v2.29	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia (MONDO: 0013264, MIM#613435) Tags
Green Green List (high evidence)	ORAI1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Disease associations Myopathy, tubular aggregate, 2 (MIM#615883) Tags
Green Green List (high evidence)	OSGEP Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Disease associations Galloway-Mowat syndrome 3, MIM#617729 Tags
Green Green List (high evidence)	OTUD6B Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, OMIM #617452 Tags
Green Green List (high evidence)	OTUD7A Genetic Epilepsy v2.60	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with hypotonia and seizures, MIM# 620790 Tags SV/CNV
Green Green List (high evidence)	OXA1L Mitochondrial disease v2.12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS NHS GMS Disease associations OXA1L-related combined oxidative phosphorylation deficiency MONDO:0000732 Tags
Green Green List (high evidence)	OXCT1 Fatty Acid Oxidation Defects v2.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050 Tags
Green Green List (high evidence)	OXCT1 Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Disease associations Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050 Tags
Green Green List (high evidence)	OXR1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay, MIM# 213000 Tags
Green Green List (high evidence)	P4HTM Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities OMIM #618493 Tags
Green Green List (high evidence)	PABPC1 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Disease associations Neurodevelopmental disorder, PABPC1-related (MONDO#0700092) Tags
Green Green List (high evidence)	PABPN1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Other Disease associations oculopharyngeal muscular dystrophy MONDO:0008116 Tags
Green Green List (high evidence)	PABPN1_OPMD_GCN STR Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Oculopharyngeal muscular dystrophy MIM#164300 Tags
Green Green List (high evidence)	PACS1 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Schuurs-Hoeijmakers syndrome (MIM# 615009) Tags
Green Green List (high evidence)	PACS2 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Developmental and epileptic encephalopathy 66 - MIM#618067 Tags
Green Green List (high evidence)	PAFAH1B1 Leukodystrophy v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Lissencephaly 1, MIM# 607432 Subcortical laminar heterotopia, MIM# 607432 MONDO:0011830 Tags
Green Green List (high evidence)	PAFAH1B1 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Lissencephaly 1, MIM# 607432 Subcortical laminar heterotopia, MIM# 607432 MONDO:0011830 Tags SV/CNV
Green Green List (high evidence)	PAH Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Phenylketonuria MIM#261600 Tags
Green Green List (high evidence)	PAH Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Phenylketonuria MIM#261600 Disorders of phenylalanine or tyrosine metabolism Tags treatable
Green Green List (high evidence)	PAH Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Disease associations Phenylketonuria, [Hyperphenylalaninemia, non-PKU mild], 261600 Tags treatable
Green Green List (high evidence)	PAH Genetic Epilepsy v2.60	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Phenylketonuria, MIM#261600 Tags treatable
Green Green List (high evidence)	PAK1 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Intellectual developmental disorder with macrocephaly, seizures, and speech delay (MIM 618158) Tags
Green Green List (high evidence)	PAK1 Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations intellectual developmental disorder with macrocephaly, seizures, and speech delay, MONDO:0032568 Tags
Green Green List (high evidence)	PAM16 Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations autosomal recessive spondylometaphyseal dysplasia, Megarbane type MONDO:0013223 Disorders of mitochondrial protein import Tags
Green Green List (high evidence)	PANK2 Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations pantothenate kinase-associated neurodegeneration MONDO:0009319 Dystonia Tags
Green Green List (high evidence)	PANK2 Early-onset Dementia v2.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Neurodegeneration with brain iron accumulation 1 (MIM#234200) Tags
Green Green List (high evidence)	PANK2 Early-onset Parkinson disease v3.33	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations pantothenate kinase-associated neurodegeneration MONDO:0009319 Tags
Green Green List (high evidence)	PANK2 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Disease associations HARP syndrome MIM#607236 Neurodegeneration with brain iron accumulation 1 MIM#234200 Tags
Green Green List (high evidence)	PANK2 Neurodegeneration with brain iron accumulation v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources GeneReviews Expert Review Green Disease associations Pantothenate kinase-associated neurodegeneration (PKAN) Tags
Green Green List (high evidence)	PARK7 Early-onset Parkinson disease v3.33	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations autosomal recessive early-onset Parkinson disease 7 MONDO:0011658 Tags
Green Green List (high evidence)	PARK7 Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert list Disease associations Parkinson disease 7, autosomal recessive early-onset MIM#606324 Tags
Green Green List (high evidence)	PARK7 Early-onset Dementia v2.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	PARP6 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Intellectual disability Epilepsy Microcephaly Tags
Green Green List (high evidence)	PARS2 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Epileptic encephalopathy, early infantile, 75, MIM# 618437 Tags
Green Green List (high evidence)	PARS2 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Epileptic encephalopathy, early infantile, 75, MIM# 618437 Tags
Green Green List (high evidence)	PC Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Pyruvate carboxylase deficiency, MIM#266150 Tags
Green Green List (high evidence)	PC Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Pyruvate carboxylase deficiency, MIM# 266150 Tags
Green Green List (high evidence)	PCCA Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Propionicacidemia - MIM#606054 Tags treatable
Green Green List (high evidence)	PCCA Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Propionicacidemia, MIM# 606054 Tags treatable
Green Green List (high evidence)	PCCB Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Propionicacidemia, MIM# 606054 Tags treatable
Green Green List (high evidence)	PCCB Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Propionicacidemia - MIM#606054 Tags review
Green Green List (high evidence)	PCDH12 Brain Calcification v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280 Tags
Green Green List (high evidence)	PCDH12 Ataxia v2.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital GeneReviews Victorian Clinical Genetics Services Disease associations cerebellar ataxia, dystonia, retinopathy, and dysmorphism Tags
Green Green List (high evidence)	PCDH12 Genetic Epilepsy v2.60	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital GeneReviews Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280 Tags
Green Green List (high evidence)	PCDH19 Genetic Epilepsy v2.60	2 reviews 2 green	Other	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Epileptic encephalopathy, early infantile, 9 300088 PCDH19-related epilepsy (early seizure onset, generalised or focused seizures) cognitive impairment Tags
Green Green List (high evidence)	PCDHGB1 Dystonia and Chorea v1.13	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Inherited dystonia, MONDO:0044807, PCDHGB1-related Tags
Green Green List (high evidence)	PCDHGC4 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with poor growth and skeletal anomalies, MIM# 619880 Tags
Green Green List (high evidence)	PCK1 Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Phosphoenolpyruvate carboxykinase deficiency, cytosolic MIM#261680 Disorders of gluconeogenesis Tags
Green Green List (high evidence)	PCNT Cerebral vascular malformations v2.0	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Disease associations Microcephalic osteodysplastic primordial dwarfism, type II 210720 Moyamoya disease Tags
Green Green List (high evidence)	PCYT2 Genetic Epilepsy v2.60	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Disease associations intellectual disability regression spastic para-/tetraparesis epilepsy progressive cerebral and cerebellar atrophy Tags
Green Green List (high evidence)	PCYT2 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations global developmental delay regression spastic parapesis or tetraparesis epilepsy progressive cerebral and cerebellar atrophy Tags
Green Green List (high evidence)	PDCD10 Genetic Epilepsy v2.60	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Cerebral cavernous malformations-3 MIM#603285 Tags
Green Green List (high evidence)	PDCD10 Cerebral vascular malformations v2.0	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Expert Review Green Victorian Clinical Genetics Services Disease associations Cerebral Cavernous Malformations Cerebral cavernous malformations 3 Cerebral cavernous malformations 3, 603285 Cerebral Cavernous Malformation Familial Cerebral Cavernous Malformation Tags
Green Green List (high evidence)	PDE10A Dystonia and Chorea v1.13	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert Review Green Expert list Disease associations Early onset chorea without epilepsy infantile onset limb and orofacial dyskinesia (OMIM 616921) Tags
Green Green List (high evidence)	PDE12 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Mitochondrial disease MONDO:0044970, PDE12-related Tags
Green Green List (high evidence)	PDE1B Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Complex neurodevelopmental disorder with motor features, MONDO:0100516, PDE1B-related Tags
Green Green List (high evidence)	PDE1B Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Complex neurodevelopmental disorder with motor features, MONDO:0100516, PDE1B-related Tags
Green Green List (high evidence)	PDE2A Genetic Epilepsy v2.60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder with paroxysmal dyskinesia or seizures MIM#619150 Tags
Green Green List (high evidence)	PDE8B Early-onset Parkinson disease v3.33	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Disease associations Striatal degeneration, autosomal dominant, MIM#609161 Tags
Green Green List (high evidence)	PDGFB Dystonia and Chorea v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Disease associations Basal ganglia calcification, idiopathic, 5 615483 Tags
Green Green List (high evidence)	PDGFB Early-onset Parkinson disease v3.33	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Basal ganglia calcification, idiopathic, 5, MIM# 615483 Tags
Green Green List (high evidence)	PDGFB Brain Calcification v3.0	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Basal ganglia calcification, idiopathic, 5 , MIM#615483 Tags
Green Green List (high evidence)	PDGFRB Brain Calcification v3.0	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Basal ganglia calcification, idiopathic, 4, MIM# 615007 MONDO:0014004 Tags
Green Green List (high evidence)	PDGFRB Cerebral vascular malformations v2.0	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Disease associations aneurysm scoliosis atrophic skin stroke infantile myofibromatosis Tags somatic
Green Green List (high evidence)	PDGFRB Early-onset Parkinson disease v3.33	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Basal ganglia calcification, idiopathic, 4, MIM# 615007 Tags
Green Green List (high evidence)	PDHA1 Dystonia and Chorea v1.13	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Disease associations Pyruvate dehydrogenase E1-alpha deficiency MIM#312170 Tags
Green Green List (high evidence)	PDHA1 Mitochondrial disease v2.12	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Pyruvate dehydrogenase E1-alpha deficiency - MIM#312170 Tags
Green Green List (high evidence)	PDHA1 Genetic Epilepsy v2.60	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Pyruvate dehydrogenase E1-alpha deficiency - MIM#312170 Tags
Green Green List (high evidence)	PDHA1 Hereditary Neuropathy v3.0	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Disease associations Primary Pyruvate Dehydrogenase Complex Deficiency MIM 312170 Tags
Green Green List (high evidence)	PDHA1 Ataxia v2.272	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Disease associations pyruvate dehydrogenase E1-alpha deficiency, MONDO:0010717 Tags
Green Green List (high evidence)	PDHB Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Pyruvate dehydrogenase E1-beta deficiency - MIM#614111 Tags
Green Green List (high evidence)	PDHX Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Lacticacidemia due to PDX1 deficiency MIM#245349 Tags
Green Green List (high evidence)	PDHX Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Lactic acidaemia due to PDX1 deficiency MIM#245349 Tags
Green Green List (high evidence)	PDHX Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Lactic acidaemia due to PDX1 deficiency MIM#245349 Tags
Green Green List (high evidence)	PDK3 Mitochondrial disease v2.12	3 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Charcot-Marie-Tooth disease, X-linked dominant, 6, MIM# 300905 Tags
Green Green List (high evidence)	PDK3 Hereditary Neuropathy v3.0	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert list Expert list Disease associations Charcot-Marie-Tooth disease, X-linked dominant, 6 MIM#300905 HMSN Tags
Green Green List (high evidence)	PDP1 Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Disease associations Pyruvate dehydrogenase phosphatase deficiency - MIM#608782 Tags
Green Green List (high evidence)	PDSS1 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Coenzyme Q10 deficiency, primary, 2 MIM#614651 Tags
Green Green List (high evidence)	PDSS2 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Coenzyme Q10 deficiency, primary, 3 MIM#614652 Tags
Green Green List (high evidence)	PDXK Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy MIM#618511 Disorders of pyridoxine metabolism Tags
Green Green List (high evidence)	PDXK Hereditary Neuropathy v3.0	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Disease associations Axonal polyneuropathy optic atrophy Tags
Green Green List (high evidence)	PDYN Ataxia v2.272	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Green Royal Melbourne Hospital Expert Review Green Expert Review Green Victorian Clinical Genetics Services Disease associations Spinocerebellar ataxia 23 Spinocerebellar ataxia 23, 610245 Tags
Green Green List (high evidence)	PDYN Hereditary Neuropathy v3.0	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Disease associations Spinocerebellar ataxia 23 (MIM#610245) Cerebellar ataxia, sensory-motor axonal neuropathy Spinocerebellar ataxia 23 Tags
Green Green List (high evidence)	PEPD Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Prolidase deficiency MIM#170100 disorders of peptide metabolism Tags
Green Green List (high evidence)	PET100 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex IV deficiency, nuclear type 12, MIM# 619055 Tags founder
Green Green List (high evidence)	PET100 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Mitochondrial complex IV deficiency, nuclear type 12, MIM# 619055 Tags founder
Green Green List (high evidence)	PEX1 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Peroxisome biogenesis disorder 1A (Zellweger) 214100 Tags
Green Green List (high evidence)	PEX1 Peroxisomal Disorders v1.8	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	PEX1 Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 Tags
Green Green List (high evidence)	PEX10 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Failure to thrive, facial dimorphism, agenesis of the corpus callosum, death in first year of life, axonal motor neuropathy, progressive ataxia and sensory-motor axonal neuropathy in adulthood described Tags
Green Green List (high evidence)	PEX10 Peroxisomal Disorders v1.8	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	PEX10 Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Peroxisome biogenesis disorder 6B, 614871 Tags
Green Green List (high evidence)	PEX10 Genetic Epilepsy v2.60	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Peroxisome biogenesis disorder 6A (Zellweger), MIM#614870 Tags
Green Green List (high evidence)	PEX11B Peroxisomal Disorders v1.8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Peroxisome biogenesis disorder 14B - MIM#614920 Tags
Green Green List (high evidence)	PEX11B Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations ?Peroxisome biogenesis disorder 14B, 614920 Tags
Green Green List (high evidence)	PEX12 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Peroxisome biogenesis disorder 3A (Zellweger) - MIM#614859 Peroxisome biogenesis disorder 3B - MIM#266510 Tags
Green Green List (high evidence)	PEX12 Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Peroxisome biogenesis disorder 3A, 614859 Peroxisome biogenesis disorder 3B, 266510 Tags
Green Green List (high evidence)	PEX12 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Peroxisome biogenesis disorder 3A (Zellweger), 614859 HMSN Tags
Green Green List (high evidence)	PEX12 Peroxisomal Disorders v1.8	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	PEX13 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Peroxisome biogenesis disorder 11A (Zellweger) Tags
Green Green List (high evidence)	PEX13 Peroxisomal Disorders v1.8	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	PEX13 Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Peroxisome biogenesis disorder 11B, 614885 Peroxisome biogenesis disorder 11A (Zellweger), 614883 Tags
Green Green List (high evidence)	PEX14 Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Peroxisome biogenesis disorder 13A (Zellweger), 614887 Tags
Green Green List (high evidence)	PEX14 Peroxisomal Disorders v1.8	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations peroxisome biogenesis disorder due to PEX14 defect MONDO:0100268 Tags
Green Green List (high evidence)	PEX16 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Zellweger syndrome (614876) Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis Peroxisome biogenesis disorder 8A, 614876 Peroxisome biogenesis disorder 8B, 614877 Tags
Green Green List (high evidence)	PEX16 Peroxisomal Disorders v1.8	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	PEX16 Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Peroxisome biogenesis disorder 8A (Zellweger), 614876 Peroxisome biogenesis disorder 8B, 614877 Tags
Green Green List (high evidence)	PEX16 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Zellweger spectrum disorders, MONDO:0019609 Tags
Green Green List (high evidence)	PEX19 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Peroxisome biogenesis disorder 12A (Zellweger) - MIM#614886 Tags
Green Green List (high evidence)	PEX19 Peroxisomal Disorders v1.8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Peroxisome biogenesis disorder 12A (Zellweger) - MIM#614886 Tags
Green Green List (high evidence)	PEX19 Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Peroxisome biogenesis disorder 12A (Zellweger), 614886 Tags
Green Green List (high evidence)	PEX2 Genetic Epilepsy v2.60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Peroxisome biogenesis disorder 5A (Zellweger), MIM#614866 Tags
Green Green List (high evidence)	PEX2 Peroxisomal Disorders v1.8	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	PEX2 Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Peroxisome biogenesis disorder 5B, 614867 Peroxisome biogenesis disorder 5A (Zellweger) 614866 Tags
Green Green List (high evidence)	PEX26 Peroxisomal Disorders v1.8	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	PEX26 Genetic Epilepsy v2.60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Peroxisome biogenesis disorder 7A (Zellweger), MIM#614872 Tags
Green Green List (high evidence)	PEX26 Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Peroxisome biogenesis disorder 7A (Zellweger), 614872 Peroxisome biogenesis disorder 7B, 614873 Tags
Green Green List (high evidence)	PEX3 Peroxisomal Disorders v1.8	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	PEX3 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Peroxisome biogenesis disorder 10A (Zellweger), MIM# 614882 Peroxisome biogenesis disorder 10B , MIM# 617370 Tags
Green Green List (high evidence)	PEX3 Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Peroxisome biogenesis disorder 10A (Zellweger), 614882 ?Peroxisome biogenesis disorder 10B, 617370 Tags
Green Green List (high evidence)	PEX5 Peroxisomal Disorders v1.8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110 Peroxisome biogenesis disorder 2B, MIM# 202370 Rhizomelic chondrodysplasia punctata, type 5, MIM# 616716 Tags
Green Green List (high evidence)	PEX5 Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Peroxisome biogenesis disorder 2A (Zellweger), 214110 Peroxisome biogenesis disorder 2B, 202370 Tags
Green Green List (high evidence)	PEX5 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110 Peroxisome biogenesis disorder 2B, MIM# 202370 Tags
Green Green List (high evidence)	PEX6 Peroxisomal Disorders v1.8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Peroxisome biogenesis disorder 4A (Zellweger), MIM# 614862 Tags
Green Green List (high evidence)	PEX6 Genetic Epilepsy v2.60	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Peroxisome biogenesis disorder 4A (Zellweger), MIM# 614862 Tags
Green Green List (high evidence)	PEX6 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Peroxisome biogenesis disorder 4A (Zellweger), MIM# 614862 Tags
Green Green List (high evidence)	PEX7 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Peroxisome biogenesis disorder 9B, MIM# 614879 Tags
Green Green List (high evidence)	PEX7 Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Peroxisome biogenesis disorder 9B, 614879 Tags
Green Green List (high evidence)	PEX7 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital GeneReviews Disease associations Refsum disease Peroxisome biogenesis disorder 9B, MIM#614879 Tags
Green Green List (high evidence)	PEX7 Peroxisomal Disorders v1.8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Peroxisome biogenesis disorder 9B, MIM# 614879 Rhizomelic chondrodysplasia punctata, type 1, MIM# 215100 Tags
Green Green List (high evidence)	PFKM Rhabdomyolysis and Metabolic Myopathy v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Glycogen storage disease VII, MIM# 232800 Tags
Green Green List (high evidence)	PFKM Glycogen Storage Diseases v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Glycogen storage disease VII (MIM#232800) Tags
Green Green List (high evidence)	PFN1 Motor Neurone Disease v2.29	3 reviews 2 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	PGAM2 Glycogen Storage Diseases v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Glycogen storage disease X, MIM# 261670 Tags
Green Green List (high evidence)	PGAM2 Rhabdomyolysis and Metabolic Myopathy v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Glycogen storage disease X, MIM# 261670 Tags
Green Green List (high evidence)	PGAP2 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628 Tags
Green Green List (high evidence)	PGAP3 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318 Tags
Green Green List (high evidence)	PGAP3 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318 Tags
Green Green List (high evidence)	PGBD5 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Disease associations Neurodevelopmental disorder with seizures, hypotonia, and variable spasticity, MIM# 621482 Tags
Green Green List (high evidence)	PGBD5 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Disease associations Neurodevelopmental disorder with seizures, hypotonia, and variable spasticity, MIM# 621482 Tags
Green Green List (high evidence)	PGK1 Glycogen Storage Diseases v2.0	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Phosphoglycerate kinase 1 deficiency, MIM# 300653 MONDO:0010392 Tags
Green Green List (high evidence)	PGK1 Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Phosphoglycerate kinase 1 deficiency 300653 MONDO:0010392 Tags
Green Green List (high evidence)	PGK1 Early-onset Parkinson disease v3.33	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations Phosphoglycerate kinase 1 deficiency, MIM# 300653 Haemolytic anaemia Rhabdomyolysis Myopathy Juvenile Parkinsonism OMIM 300653 Tags
Green Green List (high evidence)	PGM1 Glycogen Storage Diseases v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type It 614921 Glycogen storage disorder XIV Tags treatable
Green Green List (high evidence)	PGM1 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type It 614921 Tags treatable
Green Green List (high evidence)	PGM1 Rhabdomyolysis and Metabolic Myopathy v2.0	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type It, MIM# 614921 Tags treatable
Green Green List (high evidence)	PGM2L1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Neurodevelopmental disorder, MONDO:0700092, PGM2L1-related Tags
Green Green List (high evidence)	PGM3 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Immunodeficiency 23, MIM# 615816 PGM3-CDG, MONDO:0014353 Tags
Green Green List (high evidence)	PHACTR1 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Epileptic encephalopathy, early infantile, 70, MIM# 618298 Tags
Green Green List (high evidence)	PHF6 Genetic Epilepsy v2.60	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Disease associations Borjeson-Forssman-Lehmann syndrome MIM#301900 Tags
Green Green List (high evidence)	PHGDH Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Neu-Laxova syndrome 1 256520 Phosphoglycerate dehydrogenase deficiency 601815 Tags
Green Green List (high evidence)	PHGDH Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Neu-Laxova syndrome 1, MIM# 256520 Phosphoglycerate dehydrogenase deficiency, MIM# 601815 Tags
Green Green List (high evidence)	PHKA1 Glycogen Storage Diseases v2.0	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Muscle glycogenosis, MIM# 300559 Tags
Green Green List (high evidence)	PHKA1 Rhabdomyolysis and Metabolic Myopathy v2.0	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Muscle glycogenosis, MIM# 300559 Tags
Green Green List (high evidence)	PHKA2 Glycogen Storage Diseases v2.0	1 review 1 green	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	PHKB Glycogen Storage Diseases v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750 Glycogen storage disease IXb, MONDO:0009868 Tags
Green Green List (high evidence)	PHKG2 Glycogen Storage Diseases v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Glycogen storage disease IXc, MIM# 613027 Tags
Green Green List (high evidence)	PHYH Peroxisomal Disorders v1.8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Refsum disease, MIM# 266500 Tags
Green Green List (high evidence)	PHYH Hereditary Neuropathy v3.0	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Refsum Disease MIM#266500 Tags
Green Green List (high evidence)	PHYH Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital GeneReviews Disease associations Refsum disease, MIM# 266500 Tags
Green Green List (high evidence)	PI4K2A Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, MIM# 620732 Tags
Green Green List (high evidence)	PI4KA Hereditary Spastic Paraplegia v2.111	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental syndrome with hypomyelinating leukodystrophy Spastic paraplegia 84, autosomal recessive, MIM# 619621 Tags
Green Green List (high evidence)	PI4KA Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental syndrome with hypomyelinating leukodystrophy Tags
Green Green List (high evidence)	PI4KA Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092 Syndromic disease, MONDO:0002254 Tags
Green Green List (high evidence)	PIBF1 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Joubert syndrome, MONDO:0018772 Tags
Green Green List (high evidence)	PIDD1 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM# 619827 Tags
Green Green List (high evidence)	PIEZO2 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations arthrogryposis, distal, with impaired proprioception and touch, MONDO:0014941 Tags
Green Green List (high evidence)	PIEZO2 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations arthrogryposis, distal, with impaired proprioception and touch, MONDO:0014941 Tags
Green Green List (high evidence)	PIGA Metal Metabolism Disorders v1.1	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with epilepsy and hemochromatosis, MIM# 301072 Tags
Green Green List (high evidence)	PIGA Genetic Epilepsy v2.60	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466 Neurodevelopmental disorder with epilepsy and haemochromatosis, MIM# 301072 Tags
Green Green List (high evidence)	PIGA Congenital Disorders of Glycosylation v2.2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466 Tags
Green Green List (high evidence)	PIGB Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Developmental and epileptic encephalopathy 80, MIM# 618580 Acrofrontofacionasal dysplasia 1, MIM# 201180 Tags founder
Green Green List (high evidence)	PIGB Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Developmental and epileptic encephalopathy 80, MIM# 618580 Tags
Green Green List (high evidence)	PIGB Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Developmental and epileptic encephalopathy 80 MONDO:0032822 Tags
Green Green List (high evidence)	PIGC Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Glycosylphosphatidylinositol biosynthesis defect 16, MIM# 617816 Tags
Green Green List (high evidence)	PIGG Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy MIM#616917 Tags
Green Green List (high evidence)	PIGG Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations PIGG-related hereditary neuropathy MONDO:0002316 Tags
Green Green List (high evidence)	PIGG Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations intellectual disability, autosomal recessive 53, MONDO:0014832 Tags
Green Green List (high evidence)	PIGH Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Glycosylphosphatidylinositol biosynthesis defect 17, MIM# 618010 Tags
Green Green List (high evidence)	PIGH Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Glycosylphosphatidylinositol biosynthesis defect 17, MIM# 618010 Tags
Green Green List (high evidence)	PIGK Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, MIM# 618879 Tags
Green Green List (high evidence)	PIGK Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, MIM# 618879 Tags
Green Green List (high evidence)	PIGK Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, MONDO:0030037 Tags
Green Green List (high evidence)	PIGL Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations CHIME syndrome, MIM# 280000, MONDO:0010221 Tags founder SV/CNV
Green Green List (high evidence)	PIGM Genetic Epilepsy v2.60	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Glycosylphosphatidylinositol deficiency, MIM# 610293 portal vein thrombosis persistent absence seizures macrocephaly infantile-onset cerebrovascular thrombotic events Tags founder
Green Green List (high evidence)	PIGM Congenital Disorders of Glycosylation v2.2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Glycosylphosphatidylinositol deficiency, MIM# 610293 portal vein thrombosis persistent absence seizures macrocephaly infantile-onset cerebrovascular thrombotic events portal vein thrombosis persistent absence seizures macrocephaly infantile-onset cerebrovascular thrombotic events Tags founder
Green Green List (high evidence)	PIGN Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563 Tags founder SV/CNV
Green Green List (high evidence)	PIGN Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563 Tags
Green Green List (high evidence)	PIGO Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882 Tags
Green Green List (high evidence)	PIGO Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882 Tags
Green Green List (high evidence)	PIGP Genetic Epilepsy v2.60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Developmental and epileptic encephalopathy 55, MIM# 617599 Tags
Green Green List (high evidence)	PIGP Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Developmental and epileptic encephalopathy 55, MIM# 617599 Tags
Green Green List (high evidence)	PIGQ Genetic Epilepsy v2.60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Epileptic encephalopathy, early infantile, 77, MIM# 618548 Tags
Green Green List (high evidence)	PIGS Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Glycosylphosphatidylinositol biosynthesis defect 18 618143 Tags
Green Green List (high evidence)	PIGS Ataxia v2.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Expert Review Disease associations Developmental and epileptic encephalopathy 95, OMIM # 618143 Tags
Green Green List (high evidence)	PIGS Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Glycosylphosphatidylinositol biosynthesis defect 18 618143 Tags
Green Green List (high evidence)	PIGT Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165 Tags
Green Green List (high evidence)	PIGT Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165 Tags
Green Green List (high evidence)	PIGV Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398 Tags
Green Green List (high evidence)	PIGV Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398 Tags
Green Green List (high evidence)	PIGW Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Glycosylphosphatidylinositol biosynthesis defect 11, MIM# 616025 Tags
Green Green List (high evidence)	PIGW Congenital Disorders of Glycosylation v2.2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Glycosylphosphatidylinositol biosynthesis defect 11, MIM# 616025 Tags
Green Green List (high evidence)	PIK3CA Cerebral vascular malformations v2.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Disease associations Cerebral cavernous malformations 4, MIM#619538 Tags somatic
Green Green List (high evidence)	PIK3CA Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, MIM#602501 Tags somatic
Green Green List (high evidence)	PIK3R2 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, MIM# 603387 Tags
Green Green List (high evidence)	PINK1 Early-onset Parkinson disease v3.33	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Parkinson disease 6, early onset MIM#605909 Tags
Green Green List (high evidence)	PINK1 Mitochondrial disease v2.12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Disease associations Parkinson disease 6, early onset, MIM# 605909 Tags
Green Green List (high evidence)	PINK1 Dystonia and Chorea v1.13	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Parkinson disease 6, early onset Dystonia Tags
Green Green List (high evidence)	PINK1 Early-onset Dementia v2.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	PIP5K1C Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Disease associations Neurodevelopmental disorder with intellectual, visual, and language impairment MIM#621635 Tags
Green Green List (high evidence)	PISD Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Liberfarb syndrome, MIM# 618889 Intellectual disability cataracts retinal degeneration microcephaly deafness short stature white matter abnormalities Tags
Green Green List (high evidence)	PITRM1 Ataxia v2.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Expert list Disease associations Spinocerebellar ataxia-30 (SCAR30), MIM#619405 intellectual disability cognitive decline psychosis Tags
Green Green List (high evidence)	PITRM1 Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Spinocerebellar ataxia-30 (SCAR30), MIM#619405 intellectual disability cognitive decline psychosis Tags
Green Green List (high evidence)	PKD1 Cerebral vascular malformations v2.0	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Disease associations Polycystic kidney disease, adult type I 173900 Tags
Green Green List (high evidence)	PLA2G6 Early-onset Parkinson disease v3.33	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations autosomal recessive Parkinson disease 14 MONDO:0013060 Tags
Green Green List (high evidence)	PLA2G6 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Disease associations Autosomal recessive Parkinson disease 14, 612953 Parkinson disease 14 (#612953) Infantile neuroaxonal dystrophy 1 (#256600) Infantile neuroaxonal dystrophy 1, 256600 Neurodegeneration with brain iron accumulation 2B (#610217) Neurodegeneration with brain iron accumulation 2B, 610217 Tags
Green Green List (high evidence)	PLA2G6 Dystonia and Chorea v1.13	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Parkinson disease 14, autosomal recessive 612953 PLA2G6-associated neurodegeneration Neurodegeneration with brain iron accumulation 2B 610217 Infantile neuroaxonal dystrophy 1 256600 Tags
Green Green List (high evidence)	PLA2G6 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Neurodegeneration with brain iron accumulation 2B MIM#610217 Tags
Green Green List (high evidence)	PLA2G6 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Infantile neuroaxonal dystrophy 1 MIM#256600 Neurodegeneration with brain iron accumulation 2B MIM#610217 Parkinson disease 14, autosomal recessive MIM#612953 Tags
Green Green List (high evidence)	PLA2G6 Hereditary Neuropathy v3.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Infantile neuroaxonal dystrophy 1 (MIM#256600) Neurodegeneration with brain iron accumulation 2B (MIM#610217) Tags
Green Green List (high evidence)	PLA2G6 Neurodegeneration with brain iron accumulation v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources GeneReviews Expert Review Green Disease associations PLA2G6-associated neurodegeneration (PLAN) Tags
Green Green List (high evidence)	PLA2G6 Early-onset Dementia v2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Parkinson disease 14, autosomal recessive, MIM# 612953 Tags
Green Green List (high evidence)	PLA2G6 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations PLA2G6-associated neurodegeneration MONDO:0017998 Tags
Green Green List (high evidence)	PLAA Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, MIM# 617527 Tags
Green Green List (high evidence)	PLAAT3 Hereditary Neuropathy v3.0	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Lipodystrophy, familial partial, type 9, MIM# 620683 Tags new gene name
Green Green List (high evidence)	PLCB1 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Epileptic encephalopathy, early infantile, 12 (MIM#613722) Tags SV/CNV
Green Green List (high evidence)	PLEC Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Green Expert Review Royal Melbourne Hospital Disease associations Muscular dystrophy with epidermolysis bullosa simplex, 226670 Tags
Green Green List (high evidence)	PLEKHG5 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations hereditary peripheral neuropathy MONDO:0020127, PLEKHG5-related Tags
Green Green List (high evidence)	PLIN4_MRUPAV_33-mer STR Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations myopathy, distal, with rimmed vacuoles MONDO:0014945 Tags
Green Green List (high evidence)	PLK1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, PLK1-related, MONDO:0700092 Tags
Green Green List (high evidence)	PLP1 Hereditary Spastic Paraplegia v2.111	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Disease associations Spastic paraplegia 2, X-linked, MIM# 312920 Tags
Green Green List (high evidence)	PLP1 Leukodystrophy v1.12	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Disease associations Pelizaeus-Merzbacher disease, MIM# 312080 Tags
Green Green List (high evidence)	PLP1 Genetic Epilepsy v2.60	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Disease associations Pelizaeus-Merzbacher Disease, MIM#312080 Tags
Green Green List (high evidence)	PLP1 Ataxia v2.272	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Disease associations Pelizaeus-Merzbacher disease, connatal form, MONDO:0017221 Pelizaeus-Merzbacher spectrum disorder, MONDO:0010714 Tags
Green Green List (high evidence)	PLPBP Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Epilepsy, early-onset, vitamin B6-dependent, MIM# 617290 Tags
Green Green List (high evidence)	PLXNA1 Genetic Epilepsy v2.60	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Dworschak-Punetha neurodevelopmental syndrome, MIM# 619955 Tags
Green Green List (high evidence)	PMM2 Genetic Epilepsy v2.60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type Ia (MIM#212065) Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease (HIPKD), MONDO:0020642, PMM2-related Tags
Green Green List (high evidence)	PMM2 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Neonatal-onset, leukodystrophy, abnormal serum glycoproteins, mental retardation, hypotonia, ataxia, retinitis pigmentosa, seizures, slowly progressive neuropathy with SNCV, severe infections, hepatic insufficiency and cardiomyopathy Tags
Green Green List (high evidence)	PMM2 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type Ia 212065 Tags
Green Green List (high evidence)	PMM2 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations PMM2-congenital disorder of glycosylation, MONDO:0008907 Tags
Green Green List (high evidence)	PMP2 Hereditary Neuropathy v3.0	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Royal Melbourne Hospital Disease associations HMSN Charcot-Marie-Tooth disease, demyelinating, type 1G, MIM#618279 Tags
Green Green List (high evidence)	PMP22 Hereditary Neuropathy v3.0	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Royal Melbourne Hospital Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Charcot-Marie-Tooth disease, type 1A, MIM# 118220 Charcot-Marie-Tooth disease, type 1E, MIM# 118300 Dejerine-Sottas disease, MIM# 145900 Neuropathy, recurrent, with pressure palsies 162500 Roussy-Levy syndrome 180800 Tags SV/CNV
Green Green List (high evidence)	PMPCA Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Spinocerebellar ataxia, autosomal recessive 2, MIM# 213200 Tags
Green Green List (high evidence)	PMPCA Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Disease associations Spinocerebellar ataxia, autosomal recessive 2, MIM# 213200 Tags
Green Green List (high evidence)	PMPCB Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Multiple mitochondrial dysfunctions syndrome 6, MIM# 617954 Tags
Green Green List (high evidence)	PMPCB Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Multiple mitochondrial dysfunctions syndrome 6, 617954 Tags
Green Green List (high evidence)	PMPCB Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Disease associations Multiple mitochondrial dysfunctions syndrome 6, MIM# 617954 Tags
Green Green List (high evidence)	PNKD Brain Channelopathies v2.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800 Tags
Green Green List (high evidence)	PNKD Dystonia and Chorea v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Disease associations Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800 MONDO:0007326 Tags
Green Green List (high evidence)	PNKD Ataxia v2.272	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations Paroxysmal nonkinesigenic dyskinesia 1, 118800 Tags
Green Green List (high evidence)	PNKP Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Microcephaly, seizures and developmental delay, 613402 Ataxia-oculomotor apraxia 4, 616267 Ataxia with oculomotor apraxia 4 (#616267) Tags
Green Green List (high evidence)	PNKP Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Charcot-Marie-Tooth disease, axonal, type 2B2 (MIM#605589) Ataxia-oculomotor apraxia 4 (MIM#616267) Tags
Green Green List (high evidence)	PNKP Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Microcephaly, seizures, and developmental delay, MIM# 613402 Tags
Green Green List (high evidence)	PNKP Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Ataxia-oculomotor apraxia 4, MIM# 616267 Tags
Green Green List (high evidence)	PNP Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM# 613179 Tags
Green Green List (high evidence)	PNPLA2 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Disease associations Neutral lipid storage disease with myopathy 610717 Tags
Green Green List (high evidence)	PNPLA2 Rhabdomyolysis and Metabolic Myopathy v2.0	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert list Disease associations Neutral lipid storage disease with myopathy MIM#610717 Tags
Green Green List (high evidence)	PNPLA6 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Laurence-Moon Syndrome (LMS) MIM#245800 Spastic Paraplegia Type 39 MIM#612020 Tags
Green Green List (high evidence)	PNPLA6 Ataxia v2.272	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Expert list Disease associations Boucher-Neuhauser syndrome MIM#215470 Laurence-Moon syndrome MIM#245800 Oliver-McFarlane syndrome MIM#275400 Spastic paraplegia 39, autosomal recessive MIM#612020 Tags
Green Green List (high evidence)	PNPLA8 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related Tags
Green Green List (high evidence)	PNPLA8 Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related Tags
Green Green List (high evidence)	PNPLA8 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related Tags
Green Green List (high evidence)	PNPLA8 Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related Mitochondrial myopathy with lactic acidosis (MIM#251950), AR Tags
Green Green List (high evidence)	PNPLA8 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Mitochondrial disease, MONDO:0044970 Tags
Green Green List (high evidence)	PNPO Neurotransmitter Defects v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090 Tags
Green Green List (high evidence)	PNPO Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090 Tags
Green Green List (high evidence)	PNPT1 Mitochondrial disease v2.12	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Disease associations Combined oxidative phosphorylation deficiency 13 (MIM#614932) Deafness, autosomal recessive 70 (MIM#614934) Tags
Green Green List (high evidence)	PNPT1 Genetic Epilepsy v2.60	4 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Combined oxidative phosphorylation deficiency 13, MIM# 614932 Tags
Green Green List (high evidence)	PNPT1 Ataxia v2.272	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Expert Review Green Literature Disease associations Spinocerebellar ataxia 25, MIM# 608703 Tags
Green Green List (high evidence)	PNPT1 Hereditary Neuropathy v3.0	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations combined oxidative phosphorylation defect type 13, MONDO:0013977 spinocerebellar ataxia type 25, MONDO:0012103 Tags
Green Green List (high evidence)	POGLUT1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Muscular dystrophy, limb-girdle, autosomal recessive 21 (MIM#617232) Tags
Green Green List (high evidence)	POGZ Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations White-Sutton syndrome MIM#616364 Tags
Green Green List (high evidence)	POLA2 Brain Calcification v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Disease associations Telomere biology syndrome MONDO:0100137 Tags
Green Green List (high evidence)	POLG Early-onset Parkinson disease v3.33	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations autosomal dominant progressive external ophthalmoplegia MONDO:0008003 Tags
Green Green List (high evidence)	POLG Mitochondrial disease v2.12	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Disease associations Mitochondrial DNA depletion syndrome 4A (Alpers type) MIM#203700 Mitochondrial DNA depletion syndrome 4B (MNGIE type) MIM#613662 Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) MIM#607459 Progressive external ophthalmoplegia, autosomal recessive 1 MIM#258450 Tags
Green Green List (high evidence)	POLG Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700 Mitochondrial DNA depletion syndrome 4B (MNGIE type), MIM# 613662 Tags
Green Green List (high evidence)	POLG Ataxia v2.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations Mitochondrial DNA depletion syndrome 4A (Alpers type) MIM#203700 Mitochondrial DNA depletion syndrome 4B (MNGIE type) MIM#613662 Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) MIM#607459 Progressive external ophthalmoplegia, autosomal recessive 1 MIM#258450 Tags
Green Green List (high evidence)	POLG Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662 Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459 Progressive external ophthalmoplegia, autosomal dominant 1 157640 Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700 Progressive external ophthalmoplegia, autosomal recessive 1 258450 Tags
Green Green List (high evidence)	POLG Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Mitochondrial DNA depletion syndrome 4B (MNGIE type), MIM# 613662 Tags
Green Green List (high evidence)	POLG Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459 Tags
Green Green List (high evidence)	POLG2 Mitochondrial disease v2.12	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MIM# 610131 Mitochondrial DNA depletion syndrome 16 , MIM# 618528 Tags
Green Green List (high evidence)	POLG2 Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MIM# 610131 Tags
Green Green List (high evidence)	POLR1C Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Leukodystrophy, hypomyelinating, 11, MIM# 616494 Tags
Green Green List (high evidence)	POLR1C Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations hypomyelinating leukodystrophy 11, MONDO:0014666 Tags
Green Green List (high evidence)	POLR2A Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, MONDO:0032829 Tags
Green Green List (high evidence)	POLR3A Hereditary Neuropathy v3.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Literature Disease associations peripheral neuropathy, MONDO:0005244, POLR3A-related Tags deep intronic
Green Green List (high evidence)	POLR3A Ataxia v2.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations POLR3A-related disorder MONDO:0700276 Tags
Green Green List (high evidence)	POLR3A Early-onset Parkinson disease v3.33	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations POLR3A-related disorder MONDO:0700276 Tags
Green Green List (high evidence)	POLR3A Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Disease associations Spastic ataxia Tags deep intronic
Green Green List (high evidence)	POLR3A Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations POLR3A-related disorder MONDO:0700276 Tags
Green Green List (high evidence)	POLR3A Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations POLR3A-related disorder MONDO:0700276 Tags
Green Green List (high evidence)	POLR3B Hereditary Neuropathy v3.0	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Charcot-Marie-Tooth disease, demyelinating, type 1I, MIM# 619742 Tags
Green Green List (high evidence)	POLR3B Ataxia v2.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital GeneReviews Disease associations Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM#614381 Tags
Green Green List (high evidence)	POLR3B Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 614381 Tags
Green Green List (high evidence)	POLR3B Genetic Epilepsy v2.60	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Disease associations ataxia, spasticity, and demyelinating neuropathy Tags
Green Green List (high evidence)	POLR3B Hereditary Spastic Paraplegia v2.111	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations POLR3B-related disorder, MONDO:0700277 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, MONDO:0013722 Tags
Green Green List (high evidence)	POLR3K Leukodystrophy v1.12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations POLR3-related leukodystrophy MONDO:0700282 Tags founder
Green Green List (high evidence)	POLRMT Mitochondrial disease v2.12	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Combined oxidative phosphorylation deficiency 55, MIM# 619743 intellectual disability hypotonia Tags
Green Green List (high evidence)	POMGNT1 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Myopathy caused by variation in POMGNT1 MONDO:0700068 Tags
Green Green List (high evidence)	POMGNT1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 MIM#618135 Tags
Green Green List (high evidence)	POMGNT1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 MIM#614830 Tags
Green Green List (high evidence)	POMGNT2 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Myopathy caused by variation in POMGNT2 MONDO:0700069 Tags
Green Green List (high evidence)	POMGNT2 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830 Tags
Green Green List (high evidence)	POMK Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	POMT1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, MIM# 236670 Tags
Green Green List (high evidence)	POMT1 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Myopathy caused by variation in POMT1 MONDO:0700070 Tags
Green Green List (high evidence)	POMT1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Tags
Green Green List (high evidence)	POMT2 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158 Tags
Green Green List (high evidence)	POMT2 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Tags
Green Green List (high evidence)	POPDC1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations Muscular dystrophy, limb-girdle, autosomal recessive 25 616812 Tags new gene name
Green Green List (high evidence)	POPDC3 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Muscular dystrophy, limb-girdle, autosomal recessive 26, MIM# 618848 Tags
Green Green List (high evidence)	POR Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750 Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571 Tags
Green Green List (high evidence)	POU4F1 Ataxia v2.272	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Ataxia intention tremor hypotonia Tags
Green Green List (high evidence)	PPA2 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Disease associations Sudden cardiac failure, alcohol-induced, 617223 Sudden cardiac failure, infantile, 617222 Tags
Green Green List (high evidence)	PPCS Mitochondrial disease v2.12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Cardiomyopathy, dilated, 2C, MIM# 618189 Tags
Green Green List (high evidence)	PPFIA3 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Paul-Chao neurodevelopmental syndrome, MIM# 621122 Tags
Green Green List (high evidence)	PPFIBP1 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024 Tags
Green Green List (high evidence)	PPIL1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Pontocerebellar hypoplasia, type 14, MIM# 619301 microcephaly seizures Tags
Green Green List (high evidence)	PPOX Mitochondrial disease v2.12	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Literature Victorian Clinical Genetics Services Disease associations Porphyria variegata MIM#176200 Tags
Green Green List (high evidence)	PPOX Hereditary Neuropathy v3.0	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Porphyria variegata, MIM# 176200 Variegate porphyria, childhood-onset, MIM# 620483 Tags
Green Green List (high evidence)	PPP1R21 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities, MIM# 619383 Hypotonia intellectual disability white matter abnormalities Tags
Green Green List (high evidence)	PPP2CA Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Neurodevelopmental disorder and language delay with or without structural brain abnormalities, MIM#618354 Tags
Green Green List (high evidence)	PPP2R1A Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Disease associations Mental retardation, autosomal dominant 36, MIM#616362 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605 Tags
Green Green List (high evidence)	PPP2R2B_SCA12_CAG STR Early-onset Parkinson disease v3.33	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Spinocerebellar ataxia 12 MIM#604326 Tags
Green Green List (high evidence)	PPP2R2B_SCA12_CAG STR Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Expert list Disease associations Spinocerebellar ataxia 12 MIM#604326 Tags
Green Green List (high evidence)	PPP2R5D Early-onset Parkinson disease v3.33	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Early onset Parkinsonism Houge-Janssens syndrome 1, MIM#616355 Tags
Green Green List (high evidence)	PPP2R5D Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Houge-Janssens syndrome 1 MIM#616355 Tags
Green Green List (high evidence)	PPP3CA Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Developmental and epileptic encephalopathy 91, MIM#617711 Tags
Green Green List (high evidence)	PPT1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Ceroid lipofuscinosis, neuronal, 1, MIM# 256730 MONDO:0009744 Tags
Green Green List (high evidence)	PPT1 Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Ceroid lipofuscinosis, neuronal, 1, MIM# 256730 MONDO:0009744 Tags
Green Green List (high evidence)	PRDM12 Pain syndromes v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Disease associations insensitivity to pain Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488 MONDO:0014662 Tags
Green Green List (high evidence)	PRDM12 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488 MONDO:0014662 HSAN/SFN Tags
Green Green List (high evidence)	PRDM12_HSAN8_GCC STR Pain syndromes v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Expert Review Green Literature Disease associations Neuropathy, hereditary sensory and autonomic, type VIII MIM#616488 Tags paediatric-onset
Green Green List (high evidence)	PRDM12_HSAN8_GCC STR Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Literature Literature Disease associations Neuropathy, hereditary sensory and autonomic, type VIII MIM#616488 Tags paediatric-onset
Green Green List (high evidence)	PRDX3 Ataxia v2.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Disease associations Cerebellar ataxia MONDO:0000437, PRDX3-related Tags
Green Green List (high evidence)	PRDX3 Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Disease associations Cerebellar ataxia MONDO:0000437, PRDX3-related Tags
Green Green List (high evidence)	PREPL Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Literature Literature Disease associations Myasthenic syndrome, congenital, 22 MIM#616224 hypotonia-cystinuria syndrome Tags
Green Green List (high evidence)	PREPL Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Myasthenic syndrome, congenital, 22 MIM#616224 hypotonia-cystinuria syndrome Disorders of amino acid transport Tags SV/CNV
Green Green List (high evidence)	PRKAG2 Glycogen Storage Diseases v2.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Glycogen storage disease of heart, lethal congenital, MIM# 261740 Tags
Green Green List (high evidence)	PRKAG2 Rhabdomyolysis and Metabolic Myopathy v2.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Disease associations Wolff-Parkinson-White syndrome 194200 Cardiomyopathy, hypertrophic 6 600858 Glycogen storage disease of heart, lethal congenital 261740 Tags
Green Green List (high evidence)	PRKCG Early-onset Parkinson disease v3.33	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Spinocerebellar ataxia 14, MIM# 605361 Myoclonus Parkinsonism Tags
Green Green List (high evidence)	PRKCG Ataxia v2.272	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Disease associations Spinocerebellar ataxia 14, MIM# 605361 Tags
Green Green List (high evidence)	PRKN Early-onset Dementia v2.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Parkinson disease, juvenile, type 2 MIM#600116 Tags
Green Green List (high evidence)	PRKN Dystonia and Chorea v1.13	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations juvenile parkinsonism/dystonia Parkinson disease, juvenile, type 2 Dystonia Tags
Green Green List (high evidence)	PRKN Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations Disorders of mitochondrial protein quality control Parkinson disease MONDO:0005180 Tags
Green Green List (high evidence)	PRKN Early-onset Parkinson disease v3.33	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations autosomal recessive juvenile Parkinson disease 2 MONDO:0010820 Tags
Green Green List (high evidence)	PRKRA Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Disease associations Dystonia 16, MIM# 612067 MONDO:0012789 Tags founder
Green Green List (high evidence)	PRKRA Early-onset Parkinson disease v3.33	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations dystonia 16 MONDO:0012789 Tags
Green Green List (high evidence)	PRMT1 Dystonia and Chorea v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, PRMT1-related Tags
Green Green List (high evidence)	PRMT7 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Short stature, brachydactyly, intellectual developmental disability, and seizures, MIM# 617157 Tags
Green Green List (high evidence)	PRMT9 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Expert Review Green Disease associations Neurodevelopmental disorder, MONDO:0700092, PRMT9-related Tags
Green Green List (high evidence)	PRNP Pain syndromes v1.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Disease associations Cerebral amyloid angiopathy, PRNP-related, 137440 Tags
Green Green List (high evidence)	PRNP Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Royal Melbourne Hospital Disease associations Multiple allelic disorders reported Huntington disease-like 1 Autosomal Dominant Ataxia Gerstmann-Straussler disease Insomnia, fatal familial Creutzfeldt-Jakob disease Tags
Green Green List (high evidence)	PRNP Hereditary Neuropathy v3.0	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Disease associations Prion diseases peripheral neuropathy chronic diarrhea dementia Tags
Green Green List (high evidence)	PRNP Dystonia and Chorea v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Huntington disease-like 1 MONDO:0011299 Tags
Green Green List (high evidence)	PRNP Early-onset Parkinson disease v3.33	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations inherited Creutzfeldt-Jakob disease MONDO:0007403 Gerstmann-Straussler-Scheinker syndrome MONDO:0007656 Tags
Green Green List (high evidence)	PRNP Leukodystrophy v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Other Expert Review Green Expert Review Green Other Disease associations fatal familial insomnia MONDO:0010808 Tags
Green Green List (high evidence)	PRNP Early-onset Dementia v2.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Prion Disease (MIM#176640) Creutzfeldt-Jakob disease (MIM#123400) Tags
Green Green List (high evidence)	PRNP_CJD_octapeptide STR Leukodystrophy v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Expert Review Green Literature Disease associations Creutzfeldt-Jakob disease MIM#123400 Gerstmann-Straussler disease MIM#137440 Tags
Green Green List (high evidence)	PRNP_CJD_octapeptide STR Early-onset Parkinson disease v3.33	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Creutzfeldt-Jakob disease MIM#123400 Gerstmann-Straussler disease MIM#137440 Tags
Green Green List (high evidence)	PRNP_CJD_octapeptide STR Dystonia and Chorea v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Expert list Disease associations Creutzfeldt-Jakob disease MIM#123400 Gerstmann-Straussler disease MIM#137440 Tags adult-onset
Green Green List (high evidence)	PRNP_CJD_octapeptide STR Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Expert Review Green Literature Disease associations Creutzfeldt-Jakob disease MIM#123400 Gerstmann-Straussler disease MIM#137440 Tags
Green Green List (high evidence)	PRNP_CJD_octapeptide STR Early-onset Dementia v2.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Creutzfeldt-Jakob disease MIM#123400 Gerstmann-Straussler disease MIM#137440 Tags
Green Green List (high evidence)	PRODH Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Hyperprolinemia, type I 239500 Proline oxidase deficiency Tags
Green Green List (high evidence)	PRORP Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Combined oxidative phosphorylation deficiency 54, MIM# 619737 Tags new gene name
Green Green List (high evidence)	PRPF8 Genetic Epilepsy v2.60	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Disease associations Neurodevelopmental disorder MONDO:0700092, PRPF8-related Retinitis pigmentosa 13 - MIM#600059 Tags
Green Green List (high evidence)	PRPS1 Hereditary Neuropathy v3.0	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Disease associations Charcot Marie Tooth disease, X linked recessive, 5, MIM#311070 Tags
Green Green List (high evidence)	PRPS1 Ataxia v2.272	3 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Literature Disease associations Adult-onset progressive ataxia, congenital strabismus, infantile-onset hearing loss, retinal dystrophy Tags
Green Green List (high evidence)	PRPS1 Miscellaneous Metabolic Disorders v2.3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Disease associations Arts syndrome 301835 Charcot-Marie-Tooth disease, X-linked recessive, 5 311070 Deafness, X-linked 1 304500 Gout, PRPS-related 300661 Phosphoribosylpyrophosphate synthetase superactivity 300661 Tags
Green Green List (high evidence)	PRRT2 Dystonia and Chorea v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Disease associations Episodic kinesigenic dyskinesia 1, MIM# 128200 MONDO:0007494 Tags
Green Green List (high evidence)	PRRT2 Genetic Epilepsy v2.60	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations PRRT2-associated paroxysmal movement disorder MONDO:0100556 Tags
Green Green List (high evidence)	PRRT2 Brain Channelopathies v2.0	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations PRRT2-associated paroxysmal movement disorder MONDO:0100556 Tags
Green Green List (high evidence)	PRRT2 Ataxia v2.272	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations PRRT2-associated paroxysmal movement disorder MONDO:0100556 Tags
Green Green List (high evidence)	PRUNE1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies MIM#617481 Tags
Green Green List (high evidence)	PRUNE1 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, MONDO:0060490 Tags
Green Green List (high evidence)	PRX Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Charcot-Marie-Tooth disease type 4 MONDO:0018995 Tags
Green Green List (high evidence)	PSAP Genetic Epilepsy v2.60	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Combined SAP deficiency, MIM# 611721 Encephalopathy due to prosaposin deficiency, MONDO:0012719 Krabbe disease, atypical, MIM# 611722 MONDO:0012720 Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900 MONDO:0009590 Gaucher disease, atypical, MIM# 610539 MONDO:0012517 Tags
Green Green List (high evidence)	PSAP Early-onset Parkinson disease v3.33	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Parkinson disease 24, autosomal dominant, susceptibility to, MIM# 619491 Tags
Green Green List (high evidence)	PSAP Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Combined SAP deficiency, MIM# 611721 Encephalopathy due to prosaposin deficiency, MONDO:0012719 Krabbe disease, atypical, MIM# 611722 MONDO:0012720 Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900 MONDO:0009590 Gaucher disease, atypical, MIM# 610539 MONDO:0012517 Tags
Green Green List (high evidence)	PSAP Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900 Tags
Green Green List (high evidence)	PSAT1 Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Phosphoserine aminotransferase deficiency MIM#610992 Neu-Laxova syndrome 2 MIM#616038 Tags
Green Green List (high evidence)	PSEN1 Early-onset Parkinson disease v3.33	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Alzheimer disease 3 MONDO:0011913 Tags
Green Green List (high evidence)	PSEN1 Hereditary Spastic Paraplegia v2.111	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Disease associations Alzheimer disease, type 3, with spastic paraparesis and apraxia, MIM# 607822 Tags
Green Green List (high evidence)	PSEN1 Leukodystrophy v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Other Expert Review Green Expert Review Green Other Disease associations early-onset autosomal dominant Alzheimer disease MONDO:0015140 Tags
Green Green List (high evidence)	PSEN1 Dystonia and Chorea v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Disease associations Frontotemporal dementia, MIM# 600274 Dystonia Tags
Green Green List (high evidence)	PSEN1 Early-onset Dementia v2.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Alzheimer disease, type 3 (MIM#607822 MONDO:0011913) Tags
Green Green List (high evidence)	PSEN2 Early-onset Dementia v2.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Alzheimer disease-4 (MIM#606889) Tags
Green Green List (high evidence)	PSEN2 Leukodystrophy v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Other Expert Review Green Expert Review Green Other Disease associations early-onset autosomal dominant Alzheimer disease MONDO:0015140 Tags
Green Green List (high evidence)	PSMF1 Early-onset Parkinson disease v3.33	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Parkinson disease 27, autosomal recessive early-onset, MIM# 621693 Tags
Green Green List (high evidence)	PSPH Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Phosphoserine phosphatase deficiency MIM#614023 Disorders of serine, glycine or glycerate metabolism Tags
Green Green List (high evidence)	PTCD3 Mitochondrial disease v2.12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Combined oxidative phosphorylation deficiency-51, MIM#619057 Mental retardation optic atrophy Leigh-like syndrome Tags
Green Green List (high evidence)	PTEN Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Cowden syndrome 1, MIM#158350 Tags
Green Green List (high evidence)	PTEN Leukodystrophy v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Cowden syndrome 1, MIM# 158350 Tags
Green Green List (high evidence)	PTPMT1 Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with ataxia and brain abnormalities, MIM# 621199 Tags
Green Green List (high evidence)	PTPMT1 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with ataxia and brain abnormalities MONDO:0978300 Tags
Green Green List (high evidence)	PTPN23 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890 Tags
Green Green List (high evidence)	PTRH2 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Infantile multisystem neurologic, endocrine, and pancreatic disease (IMNPED) (MIM#616263) Infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, sensory neuronal hearing loss, hepatomegaly, pancreatic insufficiency, proximal placement of thumb, SNCV neuropathy Tags
Green Green List (high evidence)	PTRH2 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Infantile multi-system neurologic, endocrine, and pancreatic disease, 616263 Tags
Green Green List (high evidence)	PTRH2 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Miscellaneous disorders associated with mitochondrial dysfunction neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 MONDO:8000012 Tags
Green Green List (high evidence)	PTRHD1 Early-onset Parkinson disease v3.33	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities, MIM# 620747 Tags
Green Green List (high evidence)	PTS Neurotransmitter Defects v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640 Tags treatable
Green Green List (high evidence)	PTS Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640 Tags treatable
Green Green List (high evidence)	PTS Early-onset Parkinson disease v3.33	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	PTS Dystonia and Chorea v1.13	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Hyperphenylalaninemia, BH4-deficient, A, 261640 6-Pyruvoyltetrahydropterin Synthase Deficiency Dystonia Tags treatable
Green Green List (high evidence)	PUM1 Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Royal Melbourne Hospital Expert Review Green Expert Review Green Victorian Clinical Genetics Services Disease associations Spinocerebellar ataxia 47, 617931 Tags
Green Green List (high evidence)	PUM1 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Disease associations Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, MIM# 620719 Tags
Green Green List (high evidence)	PURA Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (OMIM 616158) Tags
Green Green List (high evidence)	PUS1 Rhabdomyolysis and Metabolic Myopathy v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Disease associations myopathy, lactic acidosis, and sideroblastic anemia 1 MONDO:0024553 Tags
Green Green List (high evidence)	PUS1 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Disease associations Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462 Tags
Green Green List (high evidence)	PUS3 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with microcephaly and gray sclerae, MIM# 617051 Tags
Green Green List (high evidence)	PYCR1 Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Cutis laxa, autosomal recessive, type IIB MIM#612940 Cutis laxa, autosomal recessive, type IIIB MIM#614438 Disorders of ornithine or proline metabolism Tags
Green Green List (high evidence)	PYCR2 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Leukodystrophy, hypomyelinating, 10, MIM# 616420 Tags
Green Green List (high evidence)	PYCR2 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations hypomyelinating leukodystrophy 10, MONDO:0014632 Tags
Green Green List (high evidence)	PYGL Glycogen Storage Diseases v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Glycogen storage disease VI, MIM# 232700 Tags
Green Green List (high evidence)	PYGM Glycogen Storage Diseases v2.0	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations McArdle disease, MIM# 232600 Disorder of glycogen metabolism MONDO:0002412, PYGM-related, AD Tags
Green Green List (high evidence)	PYGM Rhabdomyolysis and Metabolic Myopathy v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Glycogen storage disease V McArdle disease 232600 AR Tags
Green Green List (high evidence)	PYROXD1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Myopathy, myofibrillar, 8, 617258 adult-onset limb girdle muscular dystrophy Tags
Green Green List (high evidence)	QARS1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760 Tags
Green Green List (high evidence)	QARS1 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760 Tags
Green Green List (high evidence)	QDPR Early-onset Parkinson disease v3.33	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Hyperphenylalaninemia, BH4-deficient, C, MIM#261630 Dehydropteridin reductase deficiency, Infantile-onset dystonia Parkinsonism Epilepsy Autonomic dysfunction Hyperphenylalaninemia Tags
Green Green List (high evidence)	QDPR Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Hyperphenylalaninemia, BH4-deficient, C, MIM#261630 Tags treatable
Green Green List (high evidence)	QDPR Neurotransmitter Defects v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Hyperphenylalaninemia, BH4-deficient, C, MIM# 261630 Tags treatable
Green Green List (high evidence)	QDPR Dystonia and Chorea v1.13	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Hyperphenylalaninemia, BH4-deficient, C, 261630 Dihydropteridine reductase deficiency Dystonia Tags treatable
Green Green List (high evidence)	QRSL1 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Combined oxidative phosphorylation deficiency 40 MIM#618835 Tags
Green Green List (high evidence)	RAB11B Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 617807 Tags
Green Green List (high evidence)	RAB11B Leukodystrophy v1.12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Disease associations Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 617807 Tags
Green Green List (high evidence)	RAB18 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Warburg micro syndrome 3, MIM# 614222 Tags
Green Green List (high evidence)	RAB1A Hereditary Spastic Paraplegia v2.111	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder MONDO:0700092, RAB1A-related Tags
Green Green List (high evidence)	RAB32 Early-onset Parkinson disease v3.33	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations {Parkinson disease 26, autosomal dominant, susceptibility to}, MIM# 620923 Tags
Green Green List (high evidence)	RAB39B Genetic Epilepsy v2.60	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder, X-linked 72 MIM#300271 Waisman syndrome MIM#311510 Tags
Green Green List (high evidence)	RAB39B Early-onset Parkinson disease v3.33	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Early-onset parkinsonism-intellectual disability syndrome MONDO:0010709 Tags
Green Green List (high evidence)	RAB3A Ataxia v2.272	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Spinocerebellar ataxia 52, MIM# 621535 Tags
Green Green List (high evidence)	RAB3A Hereditary Spastic Paraplegia v2.111	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder MONDO:0700092 Tags
Green Green List (high evidence)	RAB3GAP2 Hereditary Spastic Paraplegia v2.111	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Martsolf syndrome 212720 Tags
Green Green List (high evidence)	RAB5C Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder MONDO:0700092, RAB5C-related Tags
Green Green List (high evidence)	RAB7A Lysosomal Storage Disorder v2.2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Disease associations Disorders of autophagy Charcot-Marie-Tooth disease type 2 MONDO:0018993 Tags
Green Green List (high evidence)	RAB7A Hereditary Neuropathy v3.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Disease associations Charcot-Marie-Tooth disease, type 2B, MIM# 600882 MONDO:0010949 Tags
Green Green List (high evidence)	RAB7A Pain syndromes v1.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Disease associations Charcot-Marie-Tooth disease, type 2B, MIM# 600882 MONDO:0010949 Tags
Green Green List (high evidence)	RAC3 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature Disease associations Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, MIM#618577 Tags
Green Green List (high evidence)	RAI1 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Smith-Magenis syndrome MIM#182290 Tags
Green Green List (high evidence)	RALA Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Hiatt-Neu-Cooper neurodevelopmental syndrome, MIM# 619311 Intellectual disability Seizures Tags
Green Green List (high evidence)	RALGAPA1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation MIM#618797 Tags
Green Green List (high evidence)	RANBP2 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations {Encephalopathy, acute, infection-induced, 3, susceptibility to} MIM#608033 Tags
Green Green List (high evidence)	RANBP2 Mitochondrial disease v2.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Disease associations {Encephalopathy, acute, infection-induced, 3, susceptibility to} MIM#608033 Tags
Green Green List (high evidence)	RARS1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Leukodystrophy, hypomyelinating, 9 (# 616140) Tags new gene name
Green Green List (high evidence)	RARS1 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Australian Genomcis Health Alliance Leukodystrophy Flagship Victorian Clinical Genetics Services Disease associations Leukodystrophy, hypomyelinating, 9 616140 Tags
Green Green List (high evidence)	RARS2 Genetic Epilepsy v2.60	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Pontocerebellar hypoplasia, type 6 MIM#611523 Tags
Green Green List (high evidence)	RARS2 Ataxia v2.272	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Pontocerebellar hypoplasia, type 6, 611523 early onset cerebellar ataxia Tags
Green Green List (high evidence)	RARS2 Mitochondrial disease v2.12	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Disease associations Pontocerebellar hypoplasia, type 6, MIM# 611523 Tags
Green Green List (high evidence)	RASA1 Cerebral vascular malformations v2.0	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Genomics England PanelApp Expert Review Green Disease associations Parkes Weber syndrome Capillary malformation-arteriovenous malformation, 608354 Parkes Weber Syndrome Parkes Weber syndrome (PKWS) Parkes Weber syndrome, 608355 Capillary Malformation-Arteriovenous Malformation Syndrome Tags
Green Green List (high evidence)	RBCK1 Glycogen Storage Diseases v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Polyglucosan body myopathy 1 with or without immunodeficiency MIM#615895 Tags
Green Green List (high evidence)	RBCK1 Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Disease associations Polyglucosan body myopathy 1 with or without immunodeficiency 615895 Tags
Green Green List (high evidence)	RBFOX1 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder (MONDO:0700092), RBFOX1-related Tags
Green Green List (high evidence)	RBMX Genetic Epilepsy v2.60	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Green Expert Review Green Disease associations Intellectual developmental disorder, syndromic 11, Shashi type, MIM#300238 Gustavson syndrome, MIM# 309555 Amyotrophic lateral sclerosis MONDO:0004976, RBMX-related Tags
Green Green List (high evidence)	RBP4 Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Microphthalmia, isolated, with coloboma 10, MIM# 616428 Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, MIM# 615147 Tags
Green Green List (high evidence)	RCC1 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Disease associations Infection-induced acute-onset axonal neuropathy, MIM# 621333 Tags
Green Green List (high evidence)	REEP1 Hereditary Neuropathy v3.0	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Spinal muscular atrophy, distal, autosomal recessive, 6, MIM#620011 Neuronopathy, distal hereditary motor, type VB MIM#614751 Spastic paraplegia 31, autosomal dominant MIM#610250 Tags
Green Green List (high evidence)	REEP1 Hereditary Spastic Paraplegia v2.111	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Spastic paraplegia 31, autosomal dominant, MIM# 610250 Tags
Green Green List (high evidence)	REEP1 Motor Neurone Disease v2.29	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations Spastic paraplegia 31, autosomal dominant MIM#610250 Tags
Green Green List (high evidence)	REEP2 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Spastic paraplegia 72, dominant and recessive, MIM# 615625 MONDO:0014282 Tags
Green Green List (high evidence)	RELN Genetic Epilepsy v2.60	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations {Epilepsy, familial temporal lobe, 7}, MIM# 616436 MONDO:0014639 Tags
Green Green List (high evidence)	RERE Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975 Tags
Green Green List (high evidence)	RETREG1 Pain syndromes v1.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Disease associations Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115 MONDO:0013142 Tags
Green Green List (high evidence)	RETREG1 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Neuropathy, hereditary sensory and autonomic, type IIB, 613115 HSAN/SFN Tags
Green Green List (high evidence)	RFC1 Ataxia v2.272	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert list Expert Review Green Expert Review Green Expert list Literature Disease associations Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575 Tags STR
Green Green List (high evidence)	RFC1 Hereditary Neuropathy v3.0	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Disease associations Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome OMIM 614575 Tags STR
Green Green List (high evidence)	RFC1 Motor Neurone Disease v2.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome MONDO:0044720 Tags
Green Green List (high evidence)	RFC1_CANVAS_ANNGN STR Early-onset Parkinson disease v3.33	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Parkinson disease MONDO:0005180 Tags
Green Green List (high evidence)	RFC1_CANVAS_ANNGN STR Motor Neurone Disease v2.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Disease associations Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575 Tags adult-onset
Green Green List (high evidence)	RFC1_CANVAS_ANNGN STR Ataxia v2.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert Review Green Expert list Disease associations Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575 Tags STR
Green Green List (high evidence)	RFC1_CANVAS_ANNGN STR Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575 Tags STR
Green Green List (high evidence)	RFC4 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Morimoto-Ryu-Malicdan neuromuscular syndrome, MONDO:0975848 Tags
Green Green List (high evidence)	RFT1 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type In, MIM# 612015 RFT1-CDG, MONDO:0012783 Tags
Green Green List (high evidence)	RFT1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Congenital disorder of glycosylation, type In, MIM# 612015 RFT1-CDG, MONDO:0012783 Tags
Green Green List (high evidence)	RHEB Genetic Epilepsy v2.60	1 review 1 green	Other	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Neurodevelopmental disorder MONDO:0700092, RHEB-related Intellectual disability Macrocephaly Focal cortical dysplasia Tags
Green Green List (high evidence)	RHOBTB2 Dystonia and Chorea v1.13	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Disease associations Epileptic encephalopathy, early infantile, 64, MIM# 618004 Dystonia, hypertonia, movement disorder truncal hypotonia hemiparesis developmental and epileptic encephalopathy Tags
Green Green List (high evidence)	RHOBTB2 Genetic Epilepsy v2.60	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Epileptic encephalopathy, early infantile, 64, MIM#618004 Tags
Green Green List (high evidence)	RHOBTB2 Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations developmental and epileptic encephalopathy, 64, MONDO:0033373 Tags
Green Green List (high evidence)	RILPL1_OPDM4_CGG STR Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Oculopharyngodistal myopathy MONDO:0025193 Tags
Green Green List (high evidence)	RING1 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations complex neurodevelopmental disorder, MONDO:0100038, RING1-related Tags
Green Green List (high evidence)	RINT1 Hereditary Spastic Paraplegia v2.111	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Hereditary spastic paraplegia, MONDO:0019064, RINT1-related Tags
Green Green List (high evidence)	RMND1 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Combined oxidative phosphorylation deficiency 11 MIM#614922 Tags
Green Green List (high evidence)	RMND1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Combined oxidative phosphorylation deficiency 11 MIM#614922 Tags
Green Green List (high evidence)	RMND1 Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Disease associations Combined oxidative phosphorylation defect type 11 MONDO:0013969 Tags
Green Green List (high evidence)	RMRP Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Disorders of ribosomal biogenesis cartilage-hair hypoplasia MONDO:0009595 Tags non-coding gene
Green Green List (high evidence)	RNASEH1 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 MIM#616479 Tags
Green Green List (high evidence)	RNASEH1 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy, MONDO:0018002 Tags
Green Green List (high evidence)	RNASEH1 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2, MONDO:0014656 Tags
Green Green List (high evidence)	RNASEH2A Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Aicardi-Goutieres syndrome 4, MIM# 610333 Tags
Green Green List (high evidence)	RNASEH2A Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Aicardi-Goutieres syndrome 4 MIM#610333 Tags
Green Green List (high evidence)	RNASEH2A Brain Calcification v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Aicardi-Goutieres syndrome 4, MIM# 610333 Tags
Green Green List (high evidence)	RNASEH2B Brain Calcification v3.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Aicardi-Goutieres syndrome 2, MIM# 610181 Tags
Green Green List (high evidence)	RNASEH2B Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Aicardi-Goutieres syndrome 2, MIM# 610181 Tags
Green Green List (high evidence)	RNASEH2B Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Aicardi Goutieres syndrome 2, MIM# 610181 Tags
Green Green List (high evidence)	RNASEH2B Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Aicardi-Goutieres syndrome 2 MIM#610181 Tags
Green Green List (high evidence)	RNASEH2B Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Aicardi-Goutieres syndrome 2, MIM# 610181 Tags
Green Green List (high evidence)	RNASEH2C Brain Calcification v3.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Aicardi-Goutieres syndrome 3, MIM# 610329 Tags
Green Green List (high evidence)	RNASEH2C Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Aicardi-Goutieres syndrome 3 (MIM# 610329) Tags
Green Green List (high evidence)	RNASEH2C Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Aicardi-Goutieres syndrome 3 MIM#610329 Tags
Green Green List (high evidence)	RNASEH2C Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Aicardi-Goutieres syndrome 3, MIM# 610329 Tags
Green Green List (high evidence)	RNASET2 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Leukoencephalopathy, cystic, without megalencephaly MIM#612951 Tags
Green Green List (high evidence)	RNASET2 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Leukoencephalopathy, cystic, without megalencephaly, MIM# 612951 Tags
Green Green List (high evidence)	RNASET2 Brain Calcification v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Leukoencephalopathy, cystic, without megalencephaly, MIM# 612951 Tags
Green Green List (high evidence)	RNF113A Genetic Epilepsy v2.60	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert Review Disease associations Trichothiodystrophy 5, nonphotosensitive, MIM#300953 Tags
Green Green List (high evidence)	RNF13 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Epileptic encephalopathy, early infantile, 73, MIM# 618379 Tags
Green Green List (high evidence)	RNF170 Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Disease associations Ataxia, sensory, 1, autosomal dominant, MIM# 608984 Tags
Green Green List (high evidence)	RNF170 Hereditary Spastic Paraplegia v2.111	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Spastic paraplegia 85, autosomal recessive, MIM# 619686 Tags
Green Green List (high evidence)	RNF2 Genetic Epilepsy v2.60	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature Disease associations Lou-Schoch-Yamamoto syndrome , MIM#619460 epilepsy intellectual disability intrauterine growth retardation Tags
Green Green List (high evidence)	RNF213 Cerebral vascular malformations v2.0	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Disease associations susceptibility to Moyamoya disease 2, (MIM# 607151) Tags
Green Green List (high evidence)	RNF213 Mitochondrial disease v2.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Moyamoya disease, MONDO:0016820 pediatric arterial ischemic stroke, MONDO:0018585 Tags
Green Green List (high evidence)	RNF216 Early-onset Dementia v2.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Cerebellar ataxia and hypogonadotropic hypogonadism MIM#212840 Tags
Green Green List (high evidence)	RNF216 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Cerebellar ataxia and hypogonadotropic hypogonadism MIM#212840 Tags
Green Green List (high evidence)	RNF220 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688 Leukodystrophy CNS hypomyelination Ataxia Intellectual disability Sensorineural hearing impairment Elevated hepatic transaminases Hepatic fibrosis Dilated cardiomyopathy Spastic paraplegia Dysarthria Abnormality of the corpus callosum Tags founder
Green Green List (high evidence)	RNF220 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688 Leukodystrophy CNS hypomyelination Ataxia Intellectual disability Sensorineural hearing impairment Elevated hepatic transaminases Hepatic fibrosis Dilated cardiomyopathy Spastic paraplegia Dysarthria Abnormality of the corpus callosum Tags founder
Green Green List (high evidence)	RNH1 Genetic Epilepsy v2.60	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Encephalopathy, acute, infection-induced, susceptibility to, 12 MIM#620461 Tags
Green Green List (high evidence)	RNU2-2 Genetic Epilepsy v2.60	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Developmental and epileptic encephalopathy 119, MIM# 621304 Tags new gene name non-coding gene
Green Green List (high evidence)	RNU4-2 Genetic Epilepsy v2.60	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Literature Disease associations Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language, MIM# 620851 Tags non-coding gene
Green Green List (high evidence)	RNU4ATAC Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710) Roifman syndrome (MIM# 616651) Lowry-Wood syndrome, MIM# 226960 Tags non-coding gene
Green Green List (high evidence)	RNU4ATAC Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations RNU4ATAC spectrum disorder, MONDO:0100558 Tags
Green Green List (high evidence)	RNU6ATAC Genetic Epilepsy v2.60	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Mendez-Johnson immunoneurologic syndrome, MIM# 621585 Tags non-coding gene
Green Green List (high evidence)	RNU7-1 Hereditary Spastic Paraplegia v2.111	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Aicardi-Goutieres syndrome 9, MIM# 619487 Tags non-coding gene
Green Green List (high evidence)	RNU7-1 Dystonia and Chorea v1.13	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Aicardi-Goutieres syndrome 9, MIM# 619487 Tags non-coding gene
Green Green List (high evidence)	RNU7-1 Brain Calcification v3.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Aicardi-Goutieres syndrome 9, MIM# 619487 Tags non-coding gene
Green Green List (high evidence)	ROGDI Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Kohlschutter-Tonz syndrome, MIM# 226750 Tags
Green Green List (high evidence)	RORA Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Disease associations Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060 Tags
Green Green List (high evidence)	RORA Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, MIM# 618060 Tags
Green Green List (high evidence)	RORB Genetic Epilepsy v2.60	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations {Epilepsy, idiopathic generalized, susceptibility to, 15} (MIM#618357), AD Genetic generalized epilepsy (GGE) Photosensitive generalized and occipital epilepsy Tags
Green Green List (high evidence)	RPGRIP1L Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Joubert syndrome 7, MIM# 611560 Tags
Green Green List (high evidence)	RPH3A Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder (MONDO#0700092), RPH3A-related Tags
Green Green List (high evidence)	RPIA Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Ribose 5-phosphate isomerase deficiency, MIM# 608611 Leukoencephalopathy Tags
Green Green List (high evidence)	RPIA Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Ribose 5-phosphate isomerase deficiency, MIM# 608611 Tags
Green Green List (high evidence)	RPS6KA3 Genetic Epilepsy v2.60	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations Coffin-Lowry syndrome MIM# 303600 Intellectual disability short stature delayed bone age hearing deficit hypotonia tapering fingers abnormal facies (hypertelorism, anteverted nares, prominent frontal region) Tags
Green Green List (high evidence)	RPS6KC1 Hereditary Spastic Paraplegia v2.111	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Disease associations Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, MIM# 621460 Tags
Green Green List (high evidence)	RPS6KC1 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Disease associations Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, MIM# 621460 Tags
Green Green List (high evidence)	RRM2B Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075 Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075 Tags
Green Green List (high evidence)	RRM2B Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 Tags
Green Green List (high evidence)	RRM2B Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Disease associations Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075 Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075 Tags
Green Green List (high evidence)	RRM2B Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075 Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075 Tags
Green Green List (high evidence)	RTN2 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Disease associations Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity, MIM# 620854 Tags
Green Green List (high evidence)	RTN2 Hereditary Spastic Paraplegia v2.111	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Spastic paraplegia 12, autosomal dominant, 604805 MONDO:0011489 Tags
Green Green List (high evidence)	RTN4IP1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Optic atrophy 10 with or without ataxia, mental retardation, and seizures, MIM#616732 Tags
Green Green List (high evidence)	RTN4IP1 Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Optic atrophy 10 with or without ataxia, mental retardation, and seizures, MIM#616732 Tags
Green Green List (high evidence)	RTN4IP1 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations optic atrophy 10 with or without ataxia, intellectual disability, and seizures, MONDO:0020737 Tags
Green Green List (high evidence)	RTTN Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Microcephaly, short stature, and polymicrogyria with seizures, MIM# 614833 Tags
Green Green List (high evidence)	RUBCN Ataxia v2.272	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Victorian Clinical Genetics Services Royal Melbourne Hospital Clinical Genetics Department Disease associations Spinocerebellar ataxia, autosomal recessive 15, MIM#615705 Tags
Green Green List (high evidence)	RXYLT1 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, MIM# 615041, MONDO:0014022 Tags new gene name
Green Green List (high evidence)	RYR1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Disease associations calf predominant distal myopathy distal myopathy MONDO:0018949 Tags
Green Green List (high evidence)	RYR1 Rhabdomyolysis and Metabolic Myopathy v2.0	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations {Malignant hyperthermia susceptibility 1}, 145600 Central core disease, 117000 King-Denborough syndrome, 145600 Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 Minicore myopathy with external ophthalmoplegia, 255320 Tags
Green Green List (high evidence)	SACS Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Charlevoix-Saguenay spastic ataxia (MONDO:0010041 MIM#270550) Tags SV/CNV
Green Green List (high evidence)	SACS Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Spastic ataxia, Charlevoix-Saguenay type, MIM@ 270550 Tags
Green Green List (high evidence)	SACS Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert list Disease associations Spastic ataxia, Charlevoix-Saguenay type, MIM# 270550 Tags
Green Green List (high evidence)	SACS Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Spastic ataxia, Charlevoix-Saguenay type MIM#270550 Tags
Green Green List (high evidence)	SAMD12 Genetic Epilepsy v2.60	3 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Disease associations Epilepsy, familial adult myoclonic, 1, MIM# 601068 Tags deep intronic STR
Green Green List (high evidence)	SAMD12_FAME1_TTTCA STR Genetic Epilepsy v2.60	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Epilepsy, familial adult myoclonic, 1 MIM#601068 Tags
Green Green List (high evidence)	SAMD9L Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Disease associations Spinocerebellar ataxia 49, MIM# 619806 Ataxia-pancytopaenia syndrome, MIM# 159550 Tags
Green Green List (high evidence)	SAMHD1 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Aicardi-Goutieres syndrome 5, MIM# 612952 Tags
Green Green List (high evidence)	SAMHD1 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Aicardi Goutieres syndrome 5, MIM# 612952 Tags
Green Green List (high evidence)	SAMHD1 Brain Calcification v3.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Aicardi-Goutieres syndrome 5, MIM# 612952 Tags
Green Green List (high evidence)	SAMHD1 Cerebral vascular malformations v2.0	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Genomics England PanelApp Expert Review Green Disease associations Moyamoya disease Tags
Green Green List (high evidence)	SAMHD1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Aicardi-Goutieres syndrome 5, MIM# 612952 Tags
Green Green List (high evidence)	SAR1B Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Chylomicron retention disease, MIM# 246700 Tags
Green Green List (high evidence)	SARS1 Hereditary Neuropathy v3.0	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature Literature Disease associations Genetic peripheral neuropathy MONDO#0020127, SARS1-related Tags new gene name
Green Green List (high evidence)	SARS2 Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Disease associations Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, MIM#613845 Tags
Green Green List (high evidence)	SART3 Genetic Epilepsy v2.60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Neurodevelopmental disorder (MONDO#0700092), SART3-related 46,XY disorder of sex development (MONDO:0020040), SART3-related Tags
Green Green List (high evidence)	SATB1 Genetic Epilepsy v2.60	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Literature Disease associations Kohlschutter-Tonz syndrome-like, MIM# 619229 Neurodevelopmental disorder Intellectual disability Epilepsy Microcephaly Regression Tags
Green Green List (high evidence)	SATB2 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Glass syndrome, MIM# 612313 MONDO:0100147 Tags
Green Green List (high evidence)	SBF1 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Charcot-Marie-Tooth disease, type 4B3 , MIM#615284 MONDO:0014117 Tags
Green Green List (high evidence)	SBF2 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Charcot Marie Tooth disease, type 4B2, MIM#604563 Tags
Green Green List (high evidence)	SC5D Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Lathosterolosis, MIM# 607330 Tags
Green Green List (high evidence)	SCAF4 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Disease associations Fliedner-Zweier syndrome, MIM#620511 Tags
Green Green List (high evidence)	SCAMP5 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, SCAMP5-related Tags
Green Green List (high evidence)	SCARB2 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Progressive Myoclonus Epilepsy, MONDO:0020074 Epilepsy, progressive myoclonic 4, with or without renal failure, MIM #254900 Tags
Green Green List (high evidence)	SCARB2 Lysosomal Storage Disorder v2.2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations action myoclonus-renal failure syndrome MONDO:0009699 Other disorders of complex molecule degradation Tags
Green Green List (high evidence)	SCARB2 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations action myoclonus-renal failure syndrome, MONDO:0009699 Tags
Green Green List (high evidence)	SCN10A Hereditary Neuropathy v3.0	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Disease associations Episodic pain syndrome, familial, 2, MIM# 615551 Tags
Green Green List (high evidence)	SCN10A Pain syndromes v1.0	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Disease associations Small fibre neuropathy Episodic pain syndrome, familial, 2, MIM# 615551 Tags
Green Green List (high evidence)	SCN11A Pain syndromes v1.0	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Disease associations Episodic pain syndrome, familial, 3, MIM# 615552 Tags
Green Green List (high evidence)	SCN11A Hereditary Neuropathy v3.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Disease associations Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548 MONDO:0014244 Tags
Green Green List (high evidence)	SCN1A Brain Channelopathies v2.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Dravet syndrome 607208 Epilepsy, generalized, with febrile seizures plus, type 2 604403 Febrile seizures, familial, 3A 604403 Migraine, familial hemiplegic, 3 609634 Tags
Green Green List (high evidence)	SCN1A Genetic Epilepsy v2.60	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Epilepsy, generalized, with febrile seizures plus, type 2 604403 Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 607208 Developmental and epileptic encephalopathy 6B, non-Dravet, MIM# 619317 Febrile seizures, familial, 3A 604403 Tags
Green Green List (high evidence)	SCN1A Early-onset Parkinson disease v3.33	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Dravet syndrome, MIM# 607208 Epilepsy, Paekinsonism Tags
Green Green List (high evidence)	SCN1A Ataxia v2.272	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Disease associations Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208 Tags
Green Green List (high evidence)	SCN1B Genetic Epilepsy v2.60	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Developmental and epileptic encephalopathy (MONDO:0100062) generalized epilepsy with febrile seizures plus (MONDO:0018214) Tags
Green Green List (high evidence)	SCN2A Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Seizures, benign familial infantile, 3, MIM# 607745 Developmental and epileptic encephalopathy 11, MIM# 613721 Tags
Green Green List (high evidence)	SCN2A Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Disease associations Early infantile epileptic encephalopathy 11, MIM# 613721 Tags
Green Green List (high evidence)	SCN3A Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Epilepsy, familial focal, with variable foci 4, MIM# 617935 Epileptic encephalopathy, early infantile, 62, MIM# 617938 Intellectual disability Malformations of cortical development Tags
Green Green List (high evidence)	SCN4A Rhabdomyolysis and Metabolic Myopathy v2.0	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Paramyotonia congenita, 168300 Myotonia congenita, atypical, acetazolamide-responsive, 608390 Hypokalemic periodic paralysis, type 2, 613345 Myasthenic syndrome, congenital, 16, 614198 Hyperkalemic periodic paralysis, type 2, 170500 Tags
Green Green List (high evidence)	SCN8A Brain Channelopathies v2.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Myoclonus, familial, 2, MIM# 618364 epilepsy paroxysmal kinesigenic dyskinesias Tags
Green Green List (high evidence)	SCN8A Genetic Epilepsy v2.60	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Epileptic encephalopathy, early infantile, 13, MIM# 614558 dominant and recessive Tags
Green Green List (high evidence)	SCN8A Ataxia v2.272	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Disease associations Epileptic encephalopathy 13, 614558 Cognitive impairment with or without cerebellar ataxia, 614306 Tags
Green Green List (high evidence)	SCN9A Hereditary Neuropathy v3.0	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Erythermalgia, primary, MIM# 133020 Insensitivity to pain, congenital, MIM# 243000 Neuropathy, hereditary sensory and autonomic, type IID, MIM# 243000 Paroxysmal extreme pain disorder, MIM# 167400 Small fiber neuropathy,MIM# 133020 Tags
Green Green List (high evidence)	SCN9A Pain syndromes v1.0	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Disease associations HSAN2D, autosomal recessive, AR, 243000 Erythermalgia, primary, AD, 133020 Small fiber neuropathy, AD,133020 Insensitivity to pain, congenital, AR, 243000 Paroxysmal extreme pain disorder, AD, 167400 Tags
Green Green List (high evidence)	SCO1 Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Mitochondrial complex IV deficiency 220110 Tags
Green Green List (high evidence)	SCO1 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex IV deficiency, nuclear type 4, MIM# 619048 Tags
Green Green List (high evidence)	SCO2 Hereditary Neuropathy v3.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Royal Melbourne Hospital Disease associations autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect MONDO:0033850 Tags
Green Green List (high evidence)	SCO2 Mitochondrial disease v2.12	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex IV deficiency, nuclear type 2, MIM# 604377 Tags
Green Green List (high evidence)	SCO2 Genetic Epilepsy v2.60	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Mitochondrial complex IV deficiency, nuclear type 2, MIM# 604377 Tags
Green Green List (high evidence)	SCO2 Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Disease associations cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 MONDO:0011451 Tags
Green Green List (high evidence)	SCO2 Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 604377 Tags
Green Green List (high evidence)	SCYL1 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Spinocerebellar ataxia, autosomal recessive 21, 616719 Early-onset ataxia (<1 year) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy Tags
Green Green List (high evidence)	SCYL1 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Spinocerebellar ataxia, autosomal recessive 21 (MIM#616719) acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome (MONDO:0014744) Spinocerebellar ataxia, autosomal recessive 21 Early-onset ataxia (<1 year) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy Tags
Green Green List (high evidence)	SCYL2 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Disease associations Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, MIM# 618766 Tags
Green Green List (high evidence)	SDHA Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Mitochondrial respiratory chain complex II deficiency, MIM#252011 Tags
Green Green List (high evidence)	SDHA Mitochondrial disease v2.12	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Disease associations Mitochondrial complex II deficiency, nuclear type 1, MIM# 252011 Cardiomyopathy, dilated, 1GG, MIM# 613642 Neurodegeneration with ataxia and late-onset optic atrophy, MIM# 619259 Tags
Green Green List (high evidence)	SDHAF1 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166 Tags
Green Green List (high evidence)	SDHAF1 Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Mitochondrial complex II deficiency 252011 Tags
Green Green List (high evidence)	SDHB Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Australian Genomcis Health Alliance Leukodystrophy Flagship Victorian Clinical Genetics Services Disease associations Succinate dehydrogenase-deficient leukoencephalopathy Mitochondrial complex II deficiency, nuclear type 4, MIM# 619224 Complex II deficiency mitochondrial leucoencephalopathy Tags
Green Green List (high evidence)	SDHB Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex II deficiency, nuclear type 4, MIM# 619224 Complex II deficiency mitochondrial leucoencephalopathy Tags
Green Green List (high evidence)	SDHD Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167 Tags
Green Green List (high evidence)	SEC23B Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Dyserythropoietic anemia, congenital, type II 224100 COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies) Tags
Green Green List (high evidence)	SEC31A Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, MIM# 618651 congenital neurodevelopmental syndrome spastic paraplegia multiple contractures profound developmental delay epilepsy failure to thrive Tags
Green Green List (high evidence)	SEC31A Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Disease associations Halperin-Birk syndrome, MIM# 618651 Tags
Green Green List (high evidence)	SECISBP2 Metal Metabolism Disorders v1.1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations thyroid hormone metabolism, abnormal 1 MONDO:0800046 Other disorders of trace element metabolism Tags
Green Green List (high evidence)	SECISBP2 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Thyroid hormone metabolism, abnormal, 1, MIM# 609698 Tags
Green Green List (high evidence)	SELENOI Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Spastic paraplegia 81, autosomal recessive, MIM# 618768 Tags
Green Green List (high evidence)	SELENOI Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Spastic paraplegia 81, autosomal recessive 618768 Tags
Green Green List (high evidence)	SEMA6B Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Progressive myoclonic epilepsy Tags
Green Green List (high evidence)	SEPSECS Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Expert list Expert list Disease associations Pontocerebellar hypoplasia type 2D, 613811 cerebellar ataxia and cognitive impairment Tags
Green Green List (high evidence)	SEPSECS Metal Metabolism Disorders v1.1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations pontocerebellar hypoplasia type 2D MONDO:0013438 Other disorders of trace element metabolism Tags
Green Green List (high evidence)	SEPSECS Genetic Epilepsy v2.60	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Pontocerebellar hypoplasia type 2D, MIM# 613811 Tags
Green Green List (high evidence)	SEPTIN9 Hereditary Neuropathy v3.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Disease associations Amyotrophy, hereditary neuralgic, MIM# 162100 HMSN Tags 5'UTR founder new gene name SV/CNV
Green Green List (high evidence)	SEPTIN9 Pain syndromes v1.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Disease associations Amyotrophy, hereditary neuralgic, 162100 Hereditary neuralgic amyotrophy Tags
Green Green List (high evidence)	SERAC1 Dystonia and Chorea v1.13	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 Lesions in the basal ganglia Tags
Green Green List (high evidence)	SERAC1 Genetic Epilepsy v2.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MIM#614739 Tags
Green Green List (high evidence)	SERAC1 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739 Tags
Green Green List (high evidence)	SERAC1 Early-onset Parkinson disease v3.33	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739 Parkinsonism Tags
Green Green List (high evidence)	SERAC1 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739 Tags
Green Green List (high evidence)	SERPINI1 Genetic Epilepsy v2.60	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations Encephalopathy, familial, with neuroserpin inclusion bodies MIM#604218 Tags
Green Green List (high evidence)	SETBP1 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Schinzel-Giedion midface retraction syndrome, MIM# 269150 Intellectual disability, autosomal dominant 29, MIM# 616078 Tags
Green Green List (high evidence)	SETD1A Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Epilepsy, early-onset, with or without developmental delay, MIM# 618832 Neurodevelopmental disorder with speech impairment and dysmorphic facies, MIM# 619056 Tags
Green Green List (high evidence)	SETD1B Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Epilepsy with myoclonic absences intellectual disability Intellectual developmental disorder with seizures and language delay (IDDSELD), MIM#619000 Tags
Green Green List (high evidence)	SETD5 Genetic Epilepsy v2.60	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Intellectual disability, autosomal dominant 23 (MIM # 615761) Tags
Green Green List (high evidence)	SETX Motor Neurone Disease v2.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Amyotrophic Lateral Sclerosis 4, juvenile (MIM#602433) Tags
Green Green List (high evidence)	SETX Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, MIM# 606002 Tags
Green Green List (high evidence)	SETX Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 MIM#606002 Tags
Green Green List (high evidence)	SETX Hereditary Neuropathy v3.0	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations dHMN/dSMA Amyotrophic lateral sclerosis 4, juvenile MIM# 602433 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Tags
Green Green List (high evidence)	SFXN4 Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Combined oxidative phosphorylation deficiency 18, MIM#615578 Tags
Green Green List (high evidence)	SGCA Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099 Tags
Green Green List (high evidence)	SGCA Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Royal Melbourne Hospital Disease associations Limb-girdle muscular dystrophy Muscular dystrophy, limb-girdle, type 2D, 608099 autosomal recessive limb-girdle muscular dystrophy, MONDO:0015152 Tags
Green Green List (high evidence)	SGCB Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Royal Melbourne Hospital Disease associations Muscular dystrophy, limb-girdle, type 2E, 604286 Tags
Green Green List (high evidence)	SGCD Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Muscular dystrophy, limb-girdle, type 2F, 601287 Tags
Green Green List (high evidence)	SGCE Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Green Expert list Disease associations Dystonia-11, myoclonic, MIM# 159900 Tags
Green Green List (high evidence)	SGCE Dystonia and Chorea v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Disease associations Dystonia-11, myoclonic, MIM# 159900 MONDO:0008044 Tags
Green Green List (high evidence)	SGCG Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Royal Melbourne Hospital Disease associations Muscular dystrophy, limb-girdle, type 2C, 253700 Tags
Green Green List (high evidence)	SGSH Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900 MONDO:0009655 Tags
Green Green List (high evidence)	SGSH Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900 Tags
Green Green List (high evidence)	SH3TC2 Hereditary Neuropathy v3.0	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Charcot-Marie-Tooth disease, type 4C MIM#601596, Mononeuropathy of the median nerve, mild MIM#613353 Tags
Green Green List (high evidence)	SHANK3 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Phelan-McDermid syndrome MIM#606232 Tags
Green Green List (high evidence)	SHH Genetic Epilepsy v2.60	2 reviews 2 green	Other	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Hypothalamic hamartoma Tags somatic
Green Green List (high evidence)	SHMT2 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121 Congenital microcephaly Infantile axial hypotonia Spastic paraparesis Global developmental delay Intellectual disability Abnormality of the corpus callosum Abnormal cortical gyration Hypertrophic cardiomyopathy Abnormality of the face Proximal placement of thumb 2-3 toe syndactyly Tags
Green Green List (high evidence)	SHMT2 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121 Congenital microcephaly Infantile axial hypotonia Spastic paraparesis Global developmental delay Intellectual disability Abnormality of the corpus callosum Abnormal cortical gyration Hypertrophic cardiomyopathy Abnormality of the face Proximal placement of thumb 2-3 toe syndactyly Tags
Green Green List (high evidence)	SHQ1 Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Dystonia 35, childhood-onset , MIM# 619921 Neurodevelopmental disorder with dystonia and seizures, MIM# 619922 Tags
Green Green List (high evidence)	SHROOM4 Genetic Epilepsy v2.60	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations epilepsy, idiopathic generalised, SHROOM4-related, MONDO:0005579 Tags
Green Green List (high evidence)	SI Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Sucrase-isomaltase deficiency, congenital, MIM# 222900 Tags
Green Green List (high evidence)	SIGMAR1 Motor Neurone Disease v2.29	3 reviews 2 green	Unknown	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	SIGMAR1 Hereditary Neuropathy v3.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Neuronopathy, distal hereditary motor, autosomal recessive 2, MIM# 605726 Tags
Green Green List (high evidence)	SIK1 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Developmental and epileptic encephalopathy 30, MIM#616341 developmental and epileptic encephalopathy, MONDO#0100062 Tags
Green Green List (high evidence)	SIL1 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Marinesco-Sjogren syndrome, 248800 Tags
Green Green List (high evidence)	SIL1 Rhabdomyolysis and Metabolic Myopathy v2.0	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Green Royal Melbourne Hospital Disease associations Marinesco-Sjogren syndrome 248800 Tags
Green Green List (high evidence)	SKOR2 Ataxia v2.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Valence-Farazi cerebellar ataxia syndrome, MIM# 621386 Tags
Green Green List (high evidence)	SLC10A1 Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Familial hypercholanemia-2, MIM#619256 Tags
Green Green List (high evidence)	SLC10A7 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, MIM# 618363 Tags
Green Green List (high evidence)	SLC11A2 Metal Metabolism Disorders v1.1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS Genomic Medicine Service Expert Review Green Genomics England PanelApp Disease associations AHMIO1 206100 Anemia, hypochromic microcytic, with iron overload 1 AHMIO1 DMT1-related anemia 206100 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1 DMT1-related anemia Tags
Green Green List (high evidence)	SLC12A3 Metal Metabolism Disorders v1.1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations Disorders of magnesium metabolism Gitelman syndrome MONDO:0009904 Tags
Green Green List (high evidence)	SLC12A5 Genetic Epilepsy v2.60	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Developmental and epileptic encephalopathy 34, MIM# 616645 {Epilepsy, idiopathic generalized, susceptibility to, 14}, MIM# 616685 Tags
Green Green List (high evidence)	SLC12A6 Hereditary Neuropathy v3.0	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Andermann syndrome Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum Charcot-Marie-Tooth disease, axonal, type 2II , MIM#620068 Tags
Green Green List (high evidence)	SLC13A3 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate (MIM# 618384) Tags
Green Green List (high evidence)	SLC13A3 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate (MIM# 618384) Tags
Green Green List (high evidence)	SLC13A3 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate (MIM# 618384) Tags
Green Green List (high evidence)	SLC13A5 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905 MONDO:0014392 Tags
Green Green List (high evidence)	SLC13A5 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations developmental and epileptic encephalopathy, 25, MONDO:0014392 Tags
Green Green List (high evidence)	SLC16A1 Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Monocarboxylate transporter 1 deficiency, MIM# 616095 Tags
Green Green List (high evidence)	SLC16A2 Leukodystrophy v1.12	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Disease associations Allan-Herndon-Dudley syndrome, MIM# 300523 Hypomyelination Tags
Green Green List (high evidence)	SLC16A2 Hereditary Spastic Paraplegia v2.111	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Disease associations Allan-Herndon-Dudley syndrome, 300523, XL Tags
Green Green List (high evidence)	SLC16A2 Dystonia and Chorea v1.13	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Disease associations Allan-Herndon-Dudley syndrome, MIM# 300523 Tags
Green Green List (high evidence)	SLC16A2 Genetic Epilepsy v2.60	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Allan-Herndon-Dudley syndrome, MIM# 300523 Tags
Green Green List (high evidence)	SLC16A2 Early-onset Parkinson disease v3.33	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Disease associations Allan-Herndon-Dudley syndrome, MONDO:0010354 Tags
Green Green List (high evidence)	SLC17A5 Ataxia v2.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Salla disease Sialic acid storage disease, severe infantile type, MIM# 269920 Tags
Green Green List (high evidence)	SLC17A5 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Salla disease 604369 Sialic acid storage disorder, infantile 269920 Tags
Green Green List (high evidence)	SLC17A5 Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Salla disease 604369 MONDO:0011449 Sialic acid storage disorder, infantile 269920 MONDO:0010027 Tags founder
Green Green List (high evidence)	SLC18A2 Neurotransmitter Defects v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Parkinsonism-dystonia, infantile, 2, MIM# 618049 Tags
Green Green List (high evidence)	SLC18A2 Early-onset Parkinson disease v3.33	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Parkinsonism-dystonia, infantile, 2 , MIM# 618049 Brain dopamine-serotonin transport disease, Childhood-onset parkinsonism Tags
Green Green List (high evidence)	SLC18A2 Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Parkinsonism-dystonia, infantile, 2, MIM# 618049 Tags
Green Green List (high evidence)	SLC19A2 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Disease associations Thiamine-responsive megaloblastic anaemia syndrome, MIM# 249270 Tags
Green Green List (high evidence)	SLC19A3 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Disease associations Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483 Tags
Green Green List (high evidence)	SLC19A3 Early-onset Parkinson disease v3.33	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483 Childhood onset Dystonia and Parkinsonism Tags
Green Green List (high evidence)	SLC19A3 Dystonia and Chorea v1.13	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) 607483 Dystonia Tags
Green Green List (high evidence)	SLC19A3 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) MIM#607483 Tags
Green Green List (high evidence)	SLC1A2 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Developmental and epileptic encephalopathy 41, MIM# 617105 Tags
Green Green List (high evidence)	SLC1A3 Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Disease associations Episodic ataxia, type 6 Episodic ataxia type 6, 612656 Tags
Green Green List (high evidence)	SLC1A3 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Disease associations Episodic ataxia, type 6, MIM# 612656 Tags
Green Green List (high evidence)	SLC1A3 Brain Channelopathies v2.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations Episodic ataxia, type 6 MIM#612656 Tags
Green Green List (high evidence)	SLC1A4 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 MONDO:0014725 Tags founder
Green Green List (high evidence)	SLC1A4 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657 MONDO:0014725 Tags founder
Green Green List (high evidence)	SLC20A2 Brain Calcification v3.0	3 reviews 3 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Basal ganglia calcification, idiopathic, 1, MIM# 213600 Tags
Green Green List (high evidence)	SLC20A2 Dystonia and Chorea v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Disease associations Basal ganglia calcification, idiopathic, 1 213600 Dystonia Tags
Green Green List (high evidence)	SLC20A2 Early-onset Parkinson disease v3.33	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Basal ganglia calcification, idiopathic, 1, MIM# 213600 Tags
Green Green List (high evidence)	SLC22A5 Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Disease associations Carnitine deficiency, systemic primary MIM#212140 Tags treatable
Green Green List (high evidence)	SLC22A5 Fatty Acid Oxidation Defects v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Carnitine deficiency, systemic primary, MIM# 212140 Tags treatable
Green Green List (high evidence)	SLC22A5 Rhabdomyolysis and Metabolic Myopathy v2.0	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Royal Melbourne Hospital Disease associations Carnitine deficiency, systemic primary 212140 Tags treatable
Green Green List (high evidence)	SLC25A1 Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072 Myasthenic syndrome, congenital, 23, presynaptic, MIM#618197, MONDO:0032596 Tags
Green Green List (high evidence)	SLC25A1 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072 Tags
Green Green List (high evidence)	SLC25A12 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Disease associations Developmental and epileptic encephalopathy 39, MIM# 612949 Tags
Green Green List (high evidence)	SLC25A12 Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Hypomyelination, global cerebral 612949 Tags
Green Green List (high evidence)	SLC25A12 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Developmental and epileptic encephalopathy 39, MIM# 612949 Tags
Green Green List (high evidence)	SLC25A15 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert Review Green Expert list Disease associations Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome MIM#238970 Tags
Green Green List (high evidence)	SLC25A19 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Disease associations Microcephaly, Amish type, MIM#607196 Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), MIM#613710 Tags
Green Green List (high evidence)	SLC25A19 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Progressive demyelinating neuropathy with bilateral striatal necrosis MONDO:0013382 Tags
Green Green List (high evidence)	SLC25A20 Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Disease associations Carnitine-acylcarnitine translocase deficiency MIM#212138 Tags
Green Green List (high evidence)	SLC25A20 Fatty Acid Oxidation Defects v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Carnitine-acylcarnitine translocase deficiency, MIM# 212138 Tags treatable
Green Green List (high evidence)	SLC25A20 Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Literature Victorian Clinical Genetics Services Disease associations Carnitine-acylcarnitine translocase deficiency MIM#212138 Tags treatable
Green Green List (high evidence)	SLC25A22 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Developmental and epileptic encephalopathy 3, MIM# 609304 Tags
Green Green List (high evidence)	SLC25A24 Mitochondrial disease v2.12	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Fontaine progeroid syndrome MIM#612289 Tags
Green Green List (high evidence)	SLC25A26 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Combined oxidative phosphorylation deficiency 28, MIM# 616794 Tags
Green Green List (high evidence)	SLC25A3 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial phosphate carrier deficiency, MIM# 610773 Tags
Green Green List (high evidence)	SLC25A32 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Exercise intolerance, riboflavin-responsive, MIM# 616839 Tags
Green Green List (high evidence)	SLC25A32 Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Expert list Disease associations Exercise intolerance, riboflavin-responsive MONDO:0014795 Tags
Green Green List (high evidence)	SLC25A36 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Hyperinsulinemic hypoglycemia, familial, 8 - MIM#620211 Tags
Green Green List (high evidence)	SLC25A38 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950 Tags
Green Green List (high evidence)	SLC25A38 Metal Metabolism Disorders v1.1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS Genomic Medicine Service Expert Review Green Genomics England PanelApp Disease associations 205950 Anemia, sideroblastic, 2, pyridoxine-refractory Sideroblastic anaemia - increased serum ferritin Tags
Green Green List (high evidence)	SLC25A4 Rhabdomyolysis and Metabolic Myopathy v2.0	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR MIM#615418 Tags
Green Green List (high evidence)	SLC25A4 Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	SLC25A4 Mitochondrial disease v2.12	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184 Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, MIM#609283 Tags
Green Green List (high evidence)	SLC25A42 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression , MIM#618416 Tags founder
Green Green List (high evidence)	SLC25A46 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Hereditary motor and sensory neuropathy type VIB, MIM#616505 Pontocerebellar hypoplasia, type 1E, MIM# 619303 Tags
Green Green List (high evidence)	SLC25A46 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505 Pontocerebellar hypoplasia, type 1E, MIM# 619303 Tags
Green Green List (high evidence)	SLC25A46 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505 Pontocerebellar hypoplasia, type 1E, MIM# 619303 Tags
Green Green List (high evidence)	SLC2A1 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations GLUT1 deficiency syndrome 1, infantile onset, severe, MIM# 606777 Developmental delay autosomal dominant, complicated hereditary spastic paraplegia (HSP) paroxysmal choreoathetosis spastic paraplegia seizure Tags
Green Green List (high evidence)	SLC2A1 Genetic Epilepsy v2.60	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 GLUT1 deficiency syndrome 2, childhood onset, 612126 Tags
Green Green List (high evidence)	SLC2A1 Brain Channelopathies v2.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations GLUT1-deficiency syndrome, MONDO:0000188 Dystonia 9 601042 GLUT1 deficiency syndrome 1, infantile onset, severe 606777 GLUT1 deficiency syndrome 2, childhood onset 612126 Stomatin-deficient cryohydrocytosis with neurologic defects 608885 Tags
Green Green List (high evidence)	SLC2A1 Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 GLUT1 deficiency syndrome 2, childhood onset, 612126 Disorders of glucose transport Tags
Green Green List (high evidence)	SLC2A1 Dystonia and Chorea v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Disease associations Dystonia 9, MIM# 601042 MONDO:0010983 Tags
Green Green List (high evidence)	SLC2A1 Ataxia v2.272	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Disease associations dystonia 9 GLUT1 deficiency syndrome 2, 612126 GLUT1 DEFICIENCY SYNDROME 1 paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia GLUT1 deficiency syndrome 1, 606777 Dystonia 9, 601042 EPILEPSY, IDIOPATHIC GENERALIZED Tags
Green Green List (high evidence)	SLC2A10 Cerebral vascular malformations v2.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert Review Green Victorian Clinical Genetics Services Disease associations 208050 Moyamoya disease Arterial tortuosity syndrome Tags
Green Green List (high evidence)	SLC2A2 Glycogen Storage Diseases v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Fanconi-Bickel syndrome (MIM#227810) Tags
Green Green List (high evidence)	SLC30A10 Metal Metabolism Disorders v1.1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations hypermanganesemia syndrome MONDO:0013208 Disorders of magnesium metabolism Tags
Green Green List (high evidence)	SLC30A10 Early-onset Parkinson disease v3.33	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome MONDO:0013208 Tags
Green Green List (high evidence)	SLC30A10 Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Hypermanganesemia with dystonia 1, MIM# 613280 Tags
Green Green List (high evidence)	SLC30A10 Dystonia and Chorea v1.13	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280 Tags
Green Green List (high evidence)	SLC30A2 Metal Metabolism Disorders v1.1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Disease associations Zinc deficiency, transient neonatal , MIM#608118 Disorders of zinc metabolism Tags
Green Green List (high evidence)	SLC30A9 Metal Metabolism Disorders v1.1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations Birk-Landau-Perez syndrome (MIM#617595) Disorders of zinc metabolism Tags
Green Green List (high evidence)	SLC30A9 Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Birk-Landau-Perez syndrome (MIM#617595) Tags
Green Green List (high evidence)	SLC31A1 Metal Metabolism Disorders v1.1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodegeneration and seizures due to copper transport defect, MIM# 620306 Tags
Green Green List (high evidence)	SLC31A1 Genetic Epilepsy v2.60	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Neurodegeneration and seizures due to copper transport defect, MIM# 620306 Tags
Green Green List (high evidence)	SLC32A1 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Generalized epilepsy with febrile seizures plus, type 12, MIM# 620755 Developmental and epileptic encephalopathy 114, MIM# 620774 Tags
Green Green List (high evidence)	SLC33A1 Metal Metabolism Disorders v1.1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations Disorders of copper metabolism Huppke-Brendel syndrome MONDO:0013772 Tags
Green Green List (high evidence)	SLC35A1 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type IIf, MIM# 603585 Tags
Green Green List (high evidence)	SLC35A2 Genetic Epilepsy v2.60	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type IIm (MIM #300896) 30817854 Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) Tags
Green Green List (high evidence)	SLC35A2 Congenital Disorders of Glycosylation v2.2	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type IIm (MIM #300896) Tags
Green Green List (high evidence)	SLC35A3 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Arthrogryposis, mental retardation, and seizures OMIM #615553 Skeletal dysplasia Congenital disorder of glycosylation Tags
Green Green List (high evidence)	SLC35C1 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953 Tags
Green Green List (high evidence)	SLC35D1 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Schneckenbecken dysplasia 269250, MONDO:0010013 O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation) Tags
Green Green List (high evidence)	SLC37A4 Congenital Disorders of Glycosylation v2.2	4 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Congenital disorder of glycosylation, type IIw, MIM# 619525 Tags
Green Green List (high evidence)	SLC37A4 Glycogen Storage Diseases v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Glycogen storage disease Ib (MIM#232220) Glycogen storage disease Ic (MIM#232240) Tags
Green Green List (high evidence)	SLC38A3 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Developmental and epileptic encephalopathy 102, MIM# 619881 Tags
Green Green List (high evidence)	SLC39A13 Metal Metabolism Disorders v1.1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations Ehlers-Danlos syndrome, spondylocheirodysplastic type MONDO:0012873 Disorders of zinc metabolism Tags
Green Green List (high evidence)	SLC39A14 Dystonia and Chorea v1.13	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Hypermanganesemia with dystonia 2 617013 Tags
Green Green List (high evidence)	SLC39A14 Metal Metabolism Disorders v1.1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations hypermanganesemia with dystonia 2 MONDO:0014864 Disorders of magnesium metabolism Tags
Green Green List (high evidence)	SLC39A14 Early-onset Parkinson disease v3.33	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Hypermanganesemia with dystonia 2 (MIM# 617013) Tags
Green Green List (high evidence)	SLC39A14 Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Hypermanganesemia with dystonia 2, MIM# 617013 Tags
Green Green List (high evidence)	SLC39A4 Metal Metabolism Disorders v1.1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations acrodermatitis enteropathica MONDO:0008713 Disorders of zinc metabolism Tags
Green Green List (high evidence)	SLC39A4 Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Acrodermatitis enteropathica MIM#201100 (Disorder of zinc metabolism) Tags
Green Green List (high evidence)	SLC39A8 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Congenital disorder of glycosylation, type IIn , MIM#616721 Tags
Green Green List (high evidence)	SLC39A8 Metal Metabolism Disorders v1.1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations SLC39A8-CDG MONDO:0014746 Other disorders of trace element metabolism Tags
Green Green List (high evidence)	SLC39A8 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Congenital disorder of glycosylation, type IIn , MIM#616721 Tags
Green Green List (high evidence)	SLC40A1 Metal Metabolism Disorders v1.1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS Genomic Medicine Service Expert Review Green Genomics England PanelApp Disease associations 606069 HEMOCHROMATOSIS, TYPE 4 HFE4 606069 Hemochromatosis, type 4 Tags
Green Green List (high evidence)	SLC44A1 Ataxia v2.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Disease associations Childhood-onset neurodegeneration progressive ataxia tremor cognitive decline dysphagia optic atrophy dysarthria Tags
Green Green List (high evidence)	SLC46A1 Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Folate malabsorption, hereditary, MIM# 229050 Tags
Green Green List (high evidence)	SLC46A1 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Disease associations Folate malabsorption, hereditary MIM# 229050 Decreased Ig levels megaloblastic anaemia failure to thrive Immunodeficiency if untreated for prolonged periods results in intellectual disability oral mucositis hypoimmunoglobulinaemia recurrent infections seizures motor impairment leukopaenia thrombocytopaenia Tags
Green Green List (high evidence)	SLC46A1 Brain Calcification v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Folate malabsorption, hereditary, MIM# 229050 Tags
Green Green List (high evidence)	SLC4A4 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Disease associations Progressive macrocephaly-brain edema disorder, MIM# 621716 Tags
Green Green List (high evidence)	SLC4A4 Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genetic Health Queensland Disease associations Progressive macrocephaly-brain edema disorder, MIM# 621716 Tags
Green Green List (high evidence)	SLC52A2 Fatty Acid Oxidation Defects v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Brown-Vialetto-Van Laere syndrome 2, MIM# 614707 Tags
Green Green List (high evidence)	SLC52A2 Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Brown-Vialetto-Van Laere syndrome 2 MIM#614707 Tags
Green Green List (high evidence)	SLC52A2 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Brown-Vialetto-van Laere syndrome 2 (BVVLS2) (MONDO:0013867) Tags
Green Green List (high evidence)	SLC52A2 Motor Neurone Disease v2.29	2 reviews 2 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	SLC52A2 Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Brown-Vialetto-van Laere syndrome 2 MONDO:0013867 Tags
Green Green List (high evidence)	SLC52A2 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Bwon-Vialetto-Van Laere syndrome 2, 614707 Tags
Green Green List (high evidence)	SLC52A3 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Brown-Vialetto-Van Laere syndrome 1 (MIM#211530) dHMN Brown-Vialetto-Van Laere syndrome 1 Fazio-Londe disease Tags
Green Green List (high evidence)	SLC52A3 Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Brown-Vialetto-van Laere syndrome 1 MONDO:0024537 Tags
Green Green List (high evidence)	SLC52A3 Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Brown-Vialetto-Van Laere syndrome 1 MIM#211530 Tags
Green Green List (high evidence)	SLC52A3 Fatty Acid Oxidation Defects v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Brown-Vialetto-Van Laere syndrome 1, MIM# 211530 Tags
Green Green List (high evidence)	SLC52A3 Motor Neurone Disease v2.29	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Amytrophic Lateral Sclerosis (ALS) Brown-Vialetto-van Laere syndrome 1 (MIM# 211530) Tags
Green Green List (high evidence)	SLC52A3 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Brown-Vialetto-van Laere syndrome 1, MONDO:0024537 Tags
Green Green List (high evidence)	SLC5A1 Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Glucose/galactose malabsorption MIM# 606824 (Disorders of glucose transport) Tags
Green Green List (high evidence)	SLC5A6 Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973 Tags
Green Green List (high evidence)	SLC5A6 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Developmental delay epilepsy neurodegeneration Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973 Tags
Green Green List (high evidence)	SLC5A6 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Peripheral motor neuropathy, childhood-onset, biotin-responsive, MIM# 619903 Tags
Green Green List (high evidence)	SLC5A7 Hereditary Neuropathy v3.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Disease associations Neuronopathy, distal hereditary motor, type VIIA, MIM# 158580 MONDO:0008024 Tags
Green Green List (high evidence)	SLC6A1 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Myoclonic-atonic epilepsy, MIM#616421 Tags
Green Green List (high evidence)	SLC6A1 Neurotransmitter Defects v2.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Disease associations Myoclonic-atonic epilepsy MONDO:0014633 Tags
Green Green List (high evidence)	SLC6A19 Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Hartnup disorder, MIM# 234500 Hyperglycinuria, MIM# 138500 Iminoglycinuria, MIM# 242600 Tags
Green Green List (high evidence)	SLC6A19 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Hartnup disorder, MIM# 234500 Tags
Green Green List (high evidence)	SLC6A3 Neurotransmitter Defects v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Parkinsonism-dystonia, infantile, 1, MIM# 613135 Tags
Green Green List (high evidence)	SLC6A3 Early-onset Parkinson disease v3.33	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Parkinsonism-dystonia, infantile, 1, MIM# 613135 Tags
Green Green List (high evidence)	SLC6A3 Dystonia and Chorea v1.13	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Dopamine transporter deficiency Parkinsonism-dystonia, infantile, 613135 Tags
Green Green List (high evidence)	SLC6A5 Neurotransmitter Defects v2.0	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Hyperekplexia 3, MIM# 614618 Tags
Green Green List (high evidence)	SLC6A5 Brain Channelopathies v2.0	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Hyperekplexia 3, MIM# 614618 Tags
Green Green List (high evidence)	SLC6A8 Genetic Epilepsy v2.60	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Cerebral creatine deficiency syndrome 1, MIM# 300352 Tags
Green Green List (high evidence)	SLC6A8 Miscellaneous Metabolic Disorders v2.3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Disease associations Cerebral creatine deficiency syndrome 1, MIM# 300352 Tags
Green Green List (high evidence)	SLC6A9 Neurotransmitter Defects v2.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations Atypical glycine encephalopathy MONDO:0015010 Glycine neurotransmitter disorders Tags
Green Green List (high evidence)	SLC9A1 Ataxia v2.272	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Lichtenstein-Knorr Syndrome, MIM# 616291 Tags
Green Green List (high evidence)	SLC9A6 Genetic Epilepsy v2.60	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Mental retardation, X-linked syndromic, Christianson type, MIM# 300243 MONDO:0010278 Tags
Green Green List (high evidence)	SLC9A6 Early-onset Parkinson disease v3.33	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Disease associations Neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairement, MIM# 301142 Tags
Green Green List (high evidence)	SLC9A6 Early-onset Dementia v2.14	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Disease associations Neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairement, MIM# 301142 Tags
Green Green List (high evidence)	SLC9A6 Ataxia v2.272	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Disease associations Mental retardation, X-linked syndromic, Christianson type, 300243 Tags
Green Green List (high evidence)	SLITRK2 Genetic Epilepsy v2.60	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder, X-linked 111, MIM# 301107 Tags
Green Green List (high evidence)	SMAD4 Cerebral vascular malformations v2.0	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Expert Review Green Victorian Clinical Genetics Services Disease associations Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 175050 Tags
Green Green List (high evidence)	SMARCA2 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Nicolaides-Baraitser syndrome, MIM# 601358 Tags
Green Green List (high evidence)	SMARCB1 Genetic Epilepsy v2.60	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Coffin-Siris syndrome 3, MIM# 614608 Epilepsy Tags
Green Green List (high evidence)	SMARCC2 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Coffin-Siris syndrome 8 OMIM #618362 Tags
Green Green List (high evidence)	SMC1A Genetic Epilepsy v2.60	2 reviews 2 green	Other	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM# 301044 Tags
Green Green List (high evidence)	SMCHD1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Facioscapulohumeral muscular dystrophy MONDO:0001347 Tags
Green Green List (high evidence)	SMN1 Hereditary Neuropathy v3.0	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Spinal muscular atrophy-1, MIM# 253300 Spinal muscular atrophy-2, MIM# 253550 Spinal muscular atrophy-3, MIM# 253400 Spinal muscular atrophy-4, MIM# 271150 Tags SV/CNV
Green Green List (high evidence)	SMN1 Motor Neurone Disease v2.29	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Disease associations Spinal muscular atrophy-1, MIM# 253300 Tags
Green Green List (high evidence)	SMPD1 Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Niemann-Pick disease, type A, MIM# 257200 MONDO:0009756 Niemann-Pick disease, type B, MIM# 607616 MONDO:0011871 Tags
Green Green List (high evidence)	SMPX Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Literature Disease associations Myopathy, distal, 7, adult-onset, X-linked, MIM# 301075 Tags
Green Green List (high evidence)	SMS Genetic Epilepsy v2.60	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Disease associations Mental retardation X-linked Snyder-Robinson type, 309583 Tags
Green Green List (high evidence)	SNAP25 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Neurodevelopmental disorder, MONDO:0700092, SNAP25-related Tags
Green Green List (high evidence)	SNAP25 Ataxia v2.272	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations ?Myasthenic syndrome, congenital, 18, 616330 cerebellar ataxia and seizures Tags
Green Green List (high evidence)	SNAP29 Hereditary Neuropathy v3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (CEDNIK) Syndrome (MONDO:0012290) (MIM#609528) Cerebral Dysgenesis and severe psychomotor retardation, axonal sensory-motor Neuropathy, Ichthyosis, palmoplantar Keratoderma, fatal by second decade of life Tags
Green Green List (high evidence)	SNAP29 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome MIM#609528 Tags
Green Green List (high evidence)	SNAPC4 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction, MIM# 620515 Tags
Green Green List (high evidence)	SNCA Early-onset Dementia v2.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Dementia, Lewy body (MIM#127750) Parkinson disease 1 (MIM#168601) Parkinson disease 4 (MIM#605543) Tags
Green Green List (high evidence)	SNCA Early-onset Parkinson disease v3.33	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Dementia, Lewy body (MIM#127750) Parkinson disease 1 (MIM#168601) Parkinson disease 4 (MIM#605543) Tags SV/CNV
Green Green List (high evidence)	SNF8 Genetic Epilepsy v2.60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Developmental and epileptic encephalopathy 115, MIM#620783 Tags
Green Green List (high evidence)	SNORD118 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Leukoencephalopathy, brain calcifications, and cysts 614561 Tags non-coding gene
Green Green List (high evidence)	SNORD118 Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Leukoencephalopathy, brain calcifications, and cysts MIM#614561 Tags non-coding gene
Green Green List (high evidence)	SNORD118 Brain Calcification v3.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Leukoencephalopathy, brain calcifications, and cysts, MIM#614561 Tags non-coding gene
Green Green List (high evidence)	SNORD118 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Leukoencephalopathy, brain calcifications, and cysts, MIM#614561 Tags non-coding gene
Green Green List (high evidence)	SNUPN Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Muscular dystrophy, limb-girdle, autosomal recessive 29, MIM# 620793 Tags
Green Green List (high evidence)	SNW1 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder (MONDO:0700092), SNW1-related Tags
Green Green List (high evidence)	SNX14 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Disease associations Autosomal recessive spinocerebellar ataxia 20, 616354 Autosomal recessive spinocerebellar ataxia (#616354) Tags
Green Green List (high evidence)	SNX14 Lysosomal Storage Disorder v2.2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations Disorders of autophagy autosomal recessive spinocerebellar ataxia 20 MONDO:0014601 Tags
Green Green List (high evidence)	SNX27 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Damseh-Danson neurodevelopmental disorder, MIM# 621591 Tags
Green Green List (high evidence)	SOD1 Motor Neurone Disease v2.29	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Amyotrophic lateral sclerosis 1 (105400 AD, AR) Spastic tetraplegia and axial hypotonia, progressive (618598 AR) Tags treatable
Green Green List (high evidence)	SOD1 Hereditary Neuropathy v3.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Hereditary peripheral neuropathy, MONDO:0020127, SOD1-related Tags
Green Green List (high evidence)	SOD1 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Spastic tetraplegia and axial hypotonia, progressive, MIM#618598 Tags
Green Green List (high evidence)	SON Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations ZTTK syndrome MIM#617140 Tags
Green Green List (high evidence)	SORD Hereditary Neuropathy v3.0	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Disease associations isolated hereditary neuropathy Sorbitol dehydrogenase deficiency with peripheral neuropathy (SORDDPN), MIM#618912 Tags
Green Green List (high evidence)	SOX10 Leukodystrophy v1.12	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Royal Melbourne Hospital Expert Review Green Disease associations peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	SOX10 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations PCWH syndrome MIM#609136 Tags
Green Green List (high evidence)	SOX10 Hereditary Neuropathy v3.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Disease associations PCWH Syndrome (MIM#609136 MONDO:0012198) Waardenburg syndrome, type 4C, 613266 Hypopigmentation of the hair and skin, sensory hearing loss, demyelinating neuropathy, dysmyelinating leukodystrophy, developmental delay, spasticity, ataxia, Hirschsprung disease Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584 HMSN Tags
Green Green List (high evidence)	SOX6 Early-onset Parkinson disease v3.33	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Tolchin-Le Caignec syndrome, MIM# 618971 Developmental delay ID ASD ADHD Parkinsonism Syringomyelia Tags
Green Green List (high evidence)	SP9 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder MONDO:0700092, SP9-related Tags
Green Green List (high evidence)	SPART Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Troyer syndrome 275900 Tags
Green Green List (high evidence)	SPART Motor Neurone Disease v2.29	1 review 1 green	Unknown	Sources Expert Review Green Expert list Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	SPART Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Troyer syndrome, MIM# 275900 SPG20 MONDO:0010156 Tags
Green Green List (high evidence)	SPAST Hereditary Neuropathy v3.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Disease associations Spastic paraplegia 4, autosomal dominant Spasticity Hereditary Neuropathies Tags
Green Green List (high evidence)	SPAST Hereditary Spastic Paraplegia v2.111	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Spastic paraplegia 4, autosomal dominant, MIM# 182601 Cerebral Palsy MONDO:0006497, SPAST-related, AR Tags
Green Green List (high evidence)	SPAST Motor Neurone Disease v2.29	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Tags
Green Green List (high evidence)	SPG11 Early-onset Dementia v2.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Spastic paraplegia 11, autosomal recessive MIM#604360 Charcot-Marie-Tooth disease, axonal, type 2X MIM#616668 Amyotrophic lateral sclerosis 5, juvenile MIM#602099 Tags
Green Green List (high evidence)	SPG11 Lysosomal Storage Disorder v2.2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations Disorders of autophagy hereditary spastic paraplegia 11 MONDO:0011445 Tags
Green Green List (high evidence)	SPG11 Hereditary Spastic Paraplegia v2.111	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Spastic paraplegia 11, autosomal recessive, MIM# 604360 Tags
Green Green List (high evidence)	SPG11 Motor Neurone Disease v2.29	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Amyotrophic lateral sclerosis 5, juvenile, MIM# 602099 Tags
Green Green List (high evidence)	SPG11 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Spastic paraplegia 11, autosomal recessive, MIM# 604360 Tags
Green Green List (high evidence)	SPG11 Early-onset Parkinson disease v3.33	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations hereditary spastic paraplegia 11 MONDO:0011445 Tags
Green Green List (high evidence)	SPG11 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations HMSN Hereditary Neuropathies axonal Charcot-Marie-Tooth disease type 2X MONDO:0014726 Tags
Green Green List (high evidence)	SPG11 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations hereditary spastic paraplegia 11, MONDO:0011445 Tags
Green Green List (high evidence)	SPG21 Leukodystrophy v1.12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert Review Green Expert list Disease associations Mast syndrome 248900 Tags new gene name
Green Green List (high evidence)	SPG21 Early-onset Dementia v2.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Mast syndrome, MIM# 248900 Tags new gene name
Green Green List (high evidence)	SPG21 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Disease associations Mast syndrome, 248900 Spastic Paraplegia, autosomal recessive Tags new gene name
Green Green List (high evidence)	SPG7 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Spastic paraplegia 7, autosomal recessive, MIM# 607259 Tags
Green Green List (high evidence)	SPG7 Motor Neurone Disease v2.29	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Disease associations Spastic paraplegia 7, autosomal recessive MIM#607259 Tags
Green Green List (high evidence)	SPG7 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Royal Melbourne Hospital Expert Review Green Expert Review Green Victorian Clinical Genetics Services Disease associations Spastic paraplegia 7 (#607259) complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia Autosomal recessive spastic paraplegia 7, 607259 Tags
Green Green List (high evidence)	SPG7 Early-onset Parkinson disease v3.33	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Spastic paraplegia 7, autosomal recessive, MIM# 607259 Ataxia Progressive external opthalmoplegia Parkinsonism Tags
Green Green List (high evidence)	SPG7 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Disease associations Spastic paraplegia 7, autosomal recessive, MIM# 607259 Autosomal dominant mitochondrial disease, MONDO:MONDO:0044970 Tags
Green Green List (high evidence)	SPNS1 Lysosomal Storage Disorder v2.2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Lysosomal disorder, SPNS1-related, MONDO:0002561 Tags
Green Green List (high evidence)	SPOUT1 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities, MIM# 621154 Tags
Green Green List (high evidence)	SPR Early-onset Parkinson disease v3.33	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Dopa-responsive dystonia due to sepiapterin reductase deficiency MONDO:0012994 Tags
Green Green List (high evidence)	SPR Brain Channelopathies v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716 Tags
Green Green List (high evidence)	SPR Neurotransmitter Defects v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716 Tags
Green Green List (high evidence)	SPR Dystonia and Chorea v1.13	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Disease associations Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716 MONDO:0012994 Tags
Green Green List (high evidence)	SPR Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716 Tags
Green Green List (high evidence)	SPR Ataxia v2.272	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Dopa-responsive dystonia due to sepiaterin reductase deficiency, 612716 Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716 Tags
Green Green List (high evidence)	SPTAN1 Genetic Epilepsy v2.60	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Developmental and epileptic encephalopathy 5, MIM# 613477 Tags
Green Green List (high evidence)	SPTAN1 Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia MONDO:0957813 Tags
Green Green List (high evidence)	SPTAN1 Hereditary Spastic Paraplegia v2.111	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Spastic Paraplegia MONDO:0019064, SPTAN1-related Autosomal dominant spastic paraplegia-91, with or without cerebellar ataxia (SPG91), MIM#620538 Tags
Green Green List (high evidence)	SPTAN1 Hereditary Neuropathy v3.0	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature Disease associations Neuronopathy, distal hereditary motor, 11, autosomal dominant, MIM# 620528 Tags
Green Green List (high evidence)	SPTAN1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations distal myopathy MONDO:0018949 Tags
Green Green List (high evidence)	SPTBN1 Genetic Epilepsy v2.60	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Developmental delay, impaired speech, and behavioural abnormalities, MIM# 619475 Tags
Green Green List (high evidence)	SPTBN2 Ataxia v2.272	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Spinocerebellar ataxia, autosomal recessive 14, MIM# 615386 Spinocerebellar ataxia 5, MIM# 600224 Tags
Green Green List (high evidence)	SPTBN4 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Disease associations Neurodevelopmental disorder with hypotonia, neuropathy, and deafness MIM#617519 Tags
Green Green List (high evidence)	SPTBN4 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with hypotonia, neuropathy, and deafness MIM#617519 Tags
Green Green List (high evidence)	SPTLC1 Miscellaneous Metabolic Disorders v2.3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Neuropathy, hereditary sensory and autonomic, type IA, MIM# 162400 Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis) Tags
Green Green List (high evidence)	SPTLC1 Hereditary Neuropathy v3.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Disease associations Juvenile amyotrophic lateral sclerosis-27, MIM#620285 HSAN/SFN Hereditary Sensory and Autonomic Neuropathy, Type II Neuropathy, hereditary sensory and autonomic, type IA, 162400 Tags
Green Green List (high evidence)	SPTLC1 Pain syndromes v1.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Disease associations Hereditary sensory neuropathy type IA HSAN 1 Neuropathy, hereditary sensory and autonomic, type IA, 162400 Tags
Green Green List (high evidence)	SPTLC1 Motor Neurone Disease v2.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations juvenile amyotrophic lateral sclerosis MONDO:0017593 Tags
Green Green List (high evidence)	SPTLC2 Hereditary Neuropathy v3.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Disease associations Neuropathy, hereditary sensory and autonomic, type IC, 613640 MONDO:0013337 HSAN/SFN Tags
Green Green List (high evidence)	SPTLC2 Pain syndromes v1.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Disease associations Hereditary sensory and autonomic neuropathy type IC HSAN 1 Neuropathy, hereditary sensory and autonomic, type IC, 613640 Tags
Green Green List (high evidence)	SPTLC2 Miscellaneous Metabolic Disorders v2.3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Neuropathy, hereditary sensory and autonomic, type IC, MIM# 613640 Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis) Tags
Green Green List (high evidence)	SPTLC2 Motor Neurone Disease v2.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations amyotrophic lateral sclerosis, MONDO:0004976 Tags
Green Green List (high evidence)	SQSTM1 Dystonia and Chorea v1.13	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145 Tags
Green Green List (high evidence)	SQSTM1 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145 Tags
Green Green List (high evidence)	SRCAP Genetic Epilepsy v2.60	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities MIM#619595 Floating-Harbor syndrome MIM#136140 Tags
Green Green List (high evidence)	SRD5A3 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type Iq, MIM# 612379 Kahrizi syndrome, MIM# 612713 Tags
Green Green List (high evidence)	SRD5A3 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Disease associations Kahrizi syndrome, 612713 Congenital disorder of glycosylation, type Iq, 612379 Congenital disorder of glycosylation type Iq, 612379 Tags
Green Green List (high evidence)	SRRM4 Dystonia and Chorea v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, SRRM4-related Tags
Green Green List (high evidence)	SRRM4 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, SRRM4-related Tags
Green Green List (high evidence)	SSBP1 Mitochondrial disease v2.12	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Optic atrophy with or without extraocular phenotypes Optic atrophy-13 with retinal and foveal abnormalities, MIM#165510 Tags
Green Green List (high evidence)	SSPOP Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, SSPOP-related Tags new gene name
Green Green List (high evidence)	SSR4 Congenital Disorders of Glycosylation v2.2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Disease associations Congenital disorder of glycosylation, type Iy, MIM#300934 Tags
Green Green List (high evidence)	ST3GAL3 Congenital Disorders of Glycosylation v2.2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Intellectual disability, autosomal recessive 12 MIM# 611090 Tags
Green Green List (high evidence)	ST3GAL5 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Salt and pepper developmental regression syndrome 609056 GM3 synthase deficiency, MONDO:0018274 Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) Tags founder
Green Green List (high evidence)	ST3GAL5 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Salt and pepper developmental regression syndrome 609056 GM3 synthase deficiency, MONDO:0018274 Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) Tags founder
Green Green List (high evidence)	STAB1 Metal Metabolism Disorders v1.1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Hyperferritinemia, MIM# 620729 Tags
Green Green List (high evidence)	STAG1 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Intellectual disability, autosomal dominant 47, MIM# 617635 Tags
Green Green List (high evidence)	STAMBP Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Microcephaly-capillary malformation syndrome, MIM# 614261 MONDO:0013659 Tags
Green Green List (high evidence)	STARD7_FAME2_ATTTC STR Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Epilepsy, familial adult myoclonic, 2 MIM#607876 Tags
Green Green List (high evidence)	STAT2 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Immunodeficiency 44, MIM# 616636 Tags
Green Green List (high evidence)	STEEP1 Genetic Epilepsy v2.60	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations Mental retardation, X-linked 107, MIM# 301013 Tags new gene name
Green Green List (high evidence)	STIM1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Disease associations Myopathy, tubular aggregate, 1 (MIM#160565) Stormorken syndrome (MIM#185070) Tags
Green Green List (high evidence)	STN1 Brain Calcification v3.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Cerebroretinal microangiopathy with calcifications and cysts 2, MIM# 617341 Tags
Green Green List (high evidence)	STRADA Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087 Polyhydramnios, megalencephaly, and symptomatic epilepsy, MONDO:0012611 Tags
Green Green List (high evidence)	STS Miscellaneous Metabolic Disorders v2.3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Disease associations Ichthyosis, X-linked 308100 Sterol metabolism disorder Tags SV/CNV
Green Green List (high evidence)	STT3A Congenital Disorders of Glycosylation v2.2	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type Iw, AR, OMIM #615596 Congenital disorder of glycosylation, type Iw, autosomal dominant, MIM# 619714 Tags
Green Green List (high evidence)	STUB1 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Spinocerebellar ataxia, autosomal recessive 16, MIM# 615768 Tags
Green Green List (high evidence)	STUB1 Early-onset Dementia v2.14	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Spinocerebellar ataxia 48 MIM#618093 cognitive impairment Spinocerebellar ataxia, autosomal recessive 16 MIM#615768 Tags
Green Green List (high evidence)	STUB1 Early-onset Parkinson disease v3.33	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Spinocerebellar Ataxia 48, OMIM 618093 Parkinsonism Tags
Green Green List (high evidence)	STUB1 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Spinocerebellar ataxia, autosomal recessive 16, MIM# 615768 Tags
Green Green List (high evidence)	STX1A Genetic Epilepsy v2.60	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder MONDO#0700092, STX1A-related Tags
Green Green List (high evidence)	STX1B Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Generalized epilepsy with febrile seizures plus, type 9, MIM# 616172 Tags
Green Green List (high evidence)	STXBP1 Genetic Epilepsy v2.60	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Developmental and epileptic encephalopathy 4, MIM# 612164 Tags
Green Green List (high evidence)	STXBP1 Early-onset Parkinson disease v3.33	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Developmental and epileptic encephalopathy 4, MIM# 612164 Juvenile onset Parkinsonism Tags
Green Green List (high evidence)	STXBP1 Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092 developmental and epileptic encephalopathy, 4, MONDO:0012812 Tags
Green Green List (high evidence)	SUCLA2 Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073 Tags
Green Green List (high evidence)	SUCLA2 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Disease associations Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM# 612073, MONDO:0012791 Tags
Green Green List (high evidence)	SUCLA2 Dystonia and Chorea v1.13	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) Dystonia Tags
Green Green List (high evidence)	SUCLA2 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM# 612073, MONDO:0012791 Tags
Green Green List (high evidence)	SUCLA2 Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Mitochondrial DNA depletion syndrome 5 Mitochondrial Leukoencephalopathy Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) Tags
Green Green List (high evidence)	SUCLG1 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) MIM#245400 Tags
Green Green List (high evidence)	SUCLG1 Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Disease associations mitochondrial DNA depletion syndrome 9 MONDO:0009504 Tags
Green Green List (high evidence)	SUFU Ataxia v2.272	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Joubert syndrome 32, MIM#617757 Neurodevelopmental disorder, MONDO:0700092, SUFU-related Tags
Green Green List (high evidence)	SUMF1 Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Multiple sulfatase deficiency (MIM#272200) Tags
Green Green List (high evidence)	SUMF1 Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations General Leukodystrophy & Mitochondrial Leukoencephalopathy Multiple sulfatase deficiency Tags
Green Green List (high evidence)	SUOX Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Sulfite oxidase deficiency, MIM# 272300 Tags
Green Green List (high evidence)	SUOX Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Sulfite oxidase deficiency MIM#272300 Tags
Green Green List (high evidence)	SUOX Brain Calcification v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Sulfite oxidase deficiency, MIM# 272300 Tags
Green Green List (high evidence)	SUOX Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Sulfite oxidase deficiency, MIM# 272300 Tags
Green Green List (high evidence)	SUPV3L1 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Mitochondrial disease, MONDO:0044970, SUPV3L1-related Tags
Green Green List (high evidence)	SUPV3L1 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Literature Literature Disease associations Mitochondrial disease, MONDO:0044970, SUPV3L1-related Tags
Green Green List (high evidence)	SURF1 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Leigh syndrome, MONDO:0009723 Tags
Green Green List (high evidence)	SURF1 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Charcot-Marie-Tooth disease, type 4K (MIM#616684 MONDO:0014733) Tags
Green Green List (high evidence)	SURF1 Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Leigh syndrome, due to COX IV deficiency Mitochondrial Leukoencephalopathy Mitochondrial complex IV disorder Tags
Green Green List (high evidence)	SURF1 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Mitochondrial complex IV deficiency, nuclear type 1, MIM# 220110 Tags
Green Green List (high evidence)	SURF1 Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Leigh syndrome, due to COX IV deficiency, MIM# 256000 Tags
Green Green List (high evidence)	SURF1 Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Disease associations Charcot-Marie-Tooth disease, type 4K MIM#616684 Mitochondrial complex IV deficiency, nuclear type 1 MIM#220110 Tags
Green Green List (high evidence)	SVBP Ataxia v2.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Literature Disease associations Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, 618569 Tags founder
Green Green List (high evidence)	SYN1 Genetic Epilepsy v2.60	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Epilepsy, X-linked, with variable learning disabilities and behaviour disorders, MIM# 300491 Intellectual developmental disorder, X-linked 50, MIM# 300115 Tags
Green Green List (high evidence)	SYNCRIP Genetic Epilepsy v2.60	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, SYNCRIP-related Global developmental delay Intellectual disability Autism Myoclonic atonic seizures Abnormality of nervous system morphology Tags
Green Green List (high evidence)	SYNE1 Ataxia v2.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Spinocerebellar ataxia, autosomal recessive 8, MIM# 610743 Tags
Green Green List (high evidence)	SYNE1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998 Tags
Green Green List (high evidence)	SYNE1 Motor Neurone Disease v2.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations autosomal recessive ataxia, Beauce type, MONDO:0012549 Tags
Green Green List (high evidence)	SYNGAP1 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Intellectual disability, autosomal dominant 5, MIM # 612621 Tags
Green Green List (high evidence)	SYNGAP1 Ataxia v2.272	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Disease associations Autosomal dominant mental retardation 5, 612621 Tags
Green Green List (high evidence)	SYNJ1 Dystonia and Chorea v1.13	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations juvenile Parkinsonism Parkinson disease 20, early-onset Tags
Green Green List (high evidence)	SYNJ1 Early-onset Parkinson disease v3.33	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Parkinson disease 20, early-onset, MIM# 615530 Tags
Green Green List (high evidence)	SYNJ1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Developmental and epileptic encephalopathy 53, MIM# 617389 Tags
Green Green List (high evidence)	SYT1 Dystonia and Chorea v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Baker-Gordon syndrome MIM#618218 Tags
Green Green List (high evidence)	SYT2 Hereditary Neuropathy v3.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Disease associations Myasthenic syndrome, congenital, 7, presynaptic, MIM# 616040 neuropathy Tags
Green Green List (high evidence)	SZT2 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Developmental and epileptic encephalopathy 18, OMIM #615476 Tags
Green Green List (high evidence)	TACO1 Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	TACO1 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex IV deficiency, nuclear type 8, MIM# 619052 Tags
Green Green List (high evidence)	TAF1_XDP_CCCTCT STR Early-onset Parkinson disease v3.33	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Dystonia-Parkinsonism, X-linked MIM#314250 Tags founder
Green Green List (high evidence)	TAF1_XDP_CCCTCT STR Dystonia and Chorea v1.13	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Expert Review Green Expert list Disease associations Dystonia-Parkinsonism, X-linked MIM#314250 Tags founder
Green Green List (high evidence)	TAF1C Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations complex neurodevelopmental disorder, TAF1C-related, MONDO:0100038 Tags
Green Green List (high evidence)	TAF8 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy, MIM# 619972 Tags
Green Green List (high evidence)	TAFAZZIN Mitochondrial disease v2.12	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Disease associations Barth syndrome, MIM# 302060 Tags
Green Green List (high evidence)	TAFAZZIN Fatty Acid Oxidation Defects v2.0	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Barth syndrome, MIM# 302060 Tags
Green Green List (high evidence)	TAFAZZIN Rhabdomyolysis and Metabolic Myopathy v2.0	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations Barth syndrome MIM#302060 Tags
Green Green List (high evidence)	TALDO1 Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Transaldolase deficiency , MIM#606003 Tags
Green Green List (high evidence)	TAMM41 Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Combined oxidative phosphorylation deficiency-56 (COXPD56), MIM#620139 hypotonia developmental delay myopathy ptosis Tags
Green Green List (high evidence)	TAMM41 Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Literature Disease associations Combined oxidative phosphorylation deficiency-56 (COXPD56), MIM#620139 Tags
Green Green List (high evidence)	TANC2 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder with autistic features and language delay, with or without seizures MIM#618906 Tags
Green Green List (high evidence)	TANGO2 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MIM# 616878 Tags
Green Green List (high evidence)	TANGO2 Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878 Tags
Green Green List (high evidence)	TANGO2 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Metabolic encephalomyopathic crises recurrent with rhabdomyolysis cardiac arrhythmias and neurodegeneration, 616878 Tags
Green Green List (high evidence)	TANGO2 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MONDO:0014812 Tags
Green Green List (high evidence)	TARDBP Early-onset Parkinson disease v3.33	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations frontotemporal dementia with motor neuron disease MONDO:0017161 Tags
Green Green List (high evidence)	TARDBP Motor Neurone Disease v2.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Amyotrophic lateral sclerosis 10, with or without FTD Frontotemporal lobar degeneration, TARDBP-related (MIM#612069 MONDO: 0012790) Tags
Green Green List (high evidence)	TARDBP Early-onset Dementia v2.14	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Amyotrophic lateral sclerosis 10, with or without FTD (MIM#612069) Tags
Green Green List (high evidence)	TARS2 Genetic Epilepsy v2.60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Expert list Victorian Clinical Genetics Services Disease associations Combined oxidative phosphorylation deficiency 21 - 615918 Epilepsy Tags
Green Green List (high evidence)	TARS2 Mitochondrial disease v2.12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Combined oxidative phosphorylation deficiency 21, MIM# 615918 Tags
Green Green List (high evidence)	TARS2 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations combined oxidative phosphorylation defect type 21, MONDO:0014398 Tags
Green Green List (high evidence)	TAT Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Tyrosinemia, type II, MIM# 276600 Tags treatable
Green Green List (high evidence)	TBC1D23 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Pontocerebellar hypoplasia type 11, 617695 Tags
Green Green List (high evidence)	TBC1D24 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Developmental and epileptic encephalopathy 16 MIM#615338 DOORS syndrome MIM#220500 Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp MIM#608105 Myoclonic epilepsy, infantile, familial MIM#605021 Tags
Green Green List (high evidence)	TBC1D24 Early-onset Parkinson disease v3.33	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Developmental and epileptic encephalopathy 16, MIM# 615338 Intellectual disability Parkinsonism Seizures Psychosis Tags
Green Green List (high evidence)	TBC1D24 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations developmental and epileptic encephalopathy, 16, MONDO:0014133 Tags
Green Green List (high evidence)	TBC1D2B Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with seizures and gingival overgrowth (NEDSGO), MIM#619323 Global developmental delay Intellectual disability Seizures Gingival overgrowth Behavioral abnormality Abnormality of the mandible Abnormality of brain morphology Abnormality of the eye Hearing abnormality Tags
Green Green List (high evidence)	TBCD Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193 Tags
Green Green List (high evidence)	TBCE Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Encephalopathy, progressive, with amyotrophy and optic atrophy 617207 Tags
Green Green List (high evidence)	TBCE Brain Calcification v3.0	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Hypoparathyroidism-retardation-dysmorphism syndrome, MIM# 241410 Tags
Green Green List (high evidence)	TBCE Ataxia v2.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Encephalopathy, progressive, with amyotrophy and optic atrophy, OMIM #617207 Tags
Green Green List (high evidence)	TBCK Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, MIM# 616900 Tags
Green Green List (high evidence)	TBK1 Lysosomal Storage Disorder v2.2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Disease associations frontotemporal dementia with motor neuron disease MONDO:0017161 Disorders of autophagy Tags
Green Green List (high evidence)	TBK1 Early-onset Dementia v2.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, MIM# 616439 Tags
Green Green List (high evidence)	TBK1 Motor Neurone Disease v2.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Amyotrophic lateral sclerosis 4 (MIM#616439 MONDO:0011223) Tags
Green Green List (high evidence)	TBL1XR1 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Intellectual disability, autosomal dominant 41, MIM# 616944 Pierpont syndrome, MIM# 602342 Tags
Green Green List (high evidence)	TBP_SCA17_CAG STR Dystonia and Chorea v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Expert list Disease associations Spinocerebellar ataxia 17 MIM#607136 Tags adult-onset paediatric-onset
Green Green List (high evidence)	TBP_SCA17_CAG STR Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Expert list Disease associations Spinocerebellar ataxia 17 MIM#607136 Tags STR
Green Green List (high evidence)	TBP_SCA17_CAG STR Early-onset Parkinson disease v3.33	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Spinocerebellar ataxia 17 MIM#607136 Tags
Green Green List (high evidence)	TBP_SCA17_CAG STR Early-onset Dementia v2.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Spinocerebellar ataxia 17 MIM#607136 Tags
Green Green List (high evidence)	TBX19 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert list Disease associations Adrenocorticotropic hormone deficiency - 201400 Tags
Green Green List (high evidence)	TCAP Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Green Expert Review Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Muscular dystrophy, limb-girdle, type 2G, 601954 Tags
Green Green List (high evidence)	TCF4 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Pitt-Hopkins syndrome, MIM# 610954 Tags
Green Green List (high evidence)	TCP1 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder with polymicrogyria and seizures, MIM# 621021 Tags
Green Green List (high evidence)	TCTN1 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Joubert syndrome 13, MIM# 614173 Tags
Green Green List (high evidence)	TCTN2 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Joubert syndrome 24, MIM# 616654 Tags
Green Green List (high evidence)	TCTN3 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Joubert syndrome 18, MIM# 614815 Orofaciodigital syndrome IV, MIM# 258860 Tags
Green Green List (high evidence)	TDP2 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Spinocerebellar ataxia, autosomal recessive 23, 616949 Tags
Green Green List (high evidence)	TDP2 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital GeneReviews Disease associations Spinocerebellar ataxia, autosomal recessive 23 Tags
Green Green List (high evidence)	TECPR2 Lysosomal Storage Disorder v2.2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations Disorders of autophagy hereditary spastic paraplegia 49 MONDO:0014016 Tags
Green Green List (high evidence)	TECPR2 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, MIM#615031 Tags
Green Green List (high evidence)	TECPR2 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Spastic paraplegia 49, autosomal recessive, 615031 Autonomic-sensory neuropathy Tags
Green Green List (high evidence)	TECPR2 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations hereditary spastic paraplegia 49, MONDO:0014016 Tags
Green Green List (high evidence)	TEFM Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Combined oxidative phosphorylation deficiency 58, MIM# 620451 Tags
Green Green List (high evidence)	TEFM Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Combined oxidative phosphorylation deficiency 58, MIM# 620451 Tags
Green Green List (high evidence)	TELO2 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations TELO2-related intellectual disability-neurodevelopmental disorder, MONDO:0014848 Tags
Green Green List (high evidence)	TET3 Genetic Epilepsy v2.60	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Beck-Fahrner syndrome MIM#618798 Tags
Green Green List (high evidence)	TF Metal Metabolism Disorders v1.1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS Genomic Medicine Service Expert Review Green Genomics England PanelApp Disease associations 209300 Atransferrinemia 209300 Atransferrinemia, Hypoferritinaemia Tags
Green Green List (high evidence)	TFAM Mitochondrial disease v2.12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) MIM#617156 Tags
Green Green List (high evidence)	TFE3 Genetic Epilepsy v2.60	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert list Disease associations Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies, MIM# 301066 Intellectual disability Epilepsy Coarse facial features Tags
Green Green List (high evidence)	TFG Hereditary Neuropathy v3.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Disease associations Hereditary motor and sensory neuropathy, Okinawa type, MIM# 604484 Tags
Green Green List (high evidence)	TFG Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Spastic paraplegia 57, autosomal recessive, MIM# 615658 Tags
Green Green List (high evidence)	TFR2 Metal Metabolism Disorders v1.1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS Genomic Medicine Service Expert Review Green Genomics England PanelApp Disease associations 604250 Hemochromatosis, type 3 HFE3 604250 HEMOCHROMATOSIS, TYPE 3 Tags
Green Green List (high evidence)	TH Neurotransmitter Defects v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Segawa syndrome, recessive , MIM#605407 Tags
Green Green List (high evidence)	TH Early-onset Parkinson disease v3.33	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Tyrosine hydroxylase deficiency MONDO:0100064 Tags
Green Green List (high evidence)	TH Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Disease associations Segawa syndrome, recessive, MIM# 605407 MONDO:0011551 Tags
Green Green List (high evidence)	THAP1 Dystonia and Chorea v1.13	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Dystonia 6, torsion, 602629 Dystonia MONDO:0011264 Tags
Green Green List (high evidence)	TIAM1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with language delay and seizures, MIM# 619908 Tags
Green Green List (high evidence)	TIMM50 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations 3-methylglutaconic aciduria, type IX, MIM# 617698 Tags
Green Green List (high evidence)	TIMM50 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations 3-methylglutaconic aciduria, type IX, MIM#617698 Tags
Green Green List (high evidence)	TIMM8A Dystonia and Chorea v1.13	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Disease associations Deafness-Dystonia-Optic Neuronopathy Syndrome Mohr-Tranebjaerg syndrome, MIM# 304700 Tags
Green Green List (high evidence)	TIMM8A Mitochondrial disease v2.12	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Disease associations Mohr-Tranebjaerg syndrome, MIM# 304700 Tags
Green Green List (high evidence)	TIMM8A Ataxia v2.272	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations deafness dystonia syndrome, MONDO:0010578 Tags
Green Green List (high evidence)	TIMMDC1 Mitochondrial disease v2.12	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS NHS GMS Disease associations Mitochondrial complex I deficiency, nuclear type 31 MIM#618251 Tags deep intronic
Green Green List (high evidence)	TINF2 Brain Calcification v3.0	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Revesz syndrome, MIM# 268130 Tags
Green Green List (high evidence)	TINF2 Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Disease associations Autosomal dominant dyskeratosis congenita 3, 613990 Revesz syndrome, 268130 Tags
Green Green List (high evidence)	TK2 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Mitochondrial DNA depletion syndrome 2 (myopathic type), MIM#609560 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, MIM# 617069 Tags
Green Green List (high evidence)	TK2 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial DNA depletion syndrome 2 (myopathic type), MIM# 609560 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, MIM# 617069 Tags
Green Green List (high evidence)	TK2 Rhabdomyolysis and Metabolic Myopathy v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 Tags
Green Green List (high evidence)	TMEM106B Leukodystrophy v1.12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Australian Genomcis Health Alliance Leukodystrophy Flagship Victorian Clinical Genetics Services Disease associations Leukodystrophy, hypomyelinating 16, MIM#617964 Tags
Green Green List (high evidence)	TMEM106B Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Disease associations Hypomyelinating leukodystrophy 16, 617964 Tags
Green Green List (high evidence)	TMEM126A Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Disorders of complex I subunits and assembly factors autosomal recessive optic atrophy, OPA7 type MONDO:0013069 Tags
Green Green List (high evidence)	TMEM126B Rhabdomyolysis and Metabolic Myopathy v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations mitochondrial complex 1 deficiency, nuclear type 29 MONDO:0032633 Tags
Green Green List (high evidence)	TMEM126B Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex I deficiency, nuclear type 29, MIM# 618250 Tags
Green Green List (high evidence)	TMEM161B Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, TMEM161B-related Tags
Green Green List (high evidence)	TMEM163 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Hypomyelinating leukodystrophy, MONDO:0019046 Tags
Green Green List (high evidence)	TMEM163 Leukodystrophy v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Hypomyelinating leukodystrophy, MONDO:0019046 Tags
Green Green List (high evidence)	TMEM165 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type IIk, MIM# 614727 TMEM165-CDG, MONDO:0013870 Tags
Green Green List (high evidence)	TMEM167A Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Microcephaly, epilepsy, and diabetes syndrome MONDO:0100328, TMEM167A-related Tags
Green Green List (high evidence)	TMEM184B Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder (MONDO:0700092), TMEM184B-related Tags
Green Green List (high evidence)	TMEM216 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Joubert syndrome 2, MIM# 608091 Tags
Green Green List (high evidence)	TMEM218 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Joubert syndrome 39, MONDO:0030454 Tags
Green Green List (high evidence)	TMEM222 Genetic Epilepsy v2.60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with motor and speech delay and behavioural abnormalities, MIM# 619470 Motor delay Delayed speech and language development Intellectual disability Generalized hypotonia Broad-based gait Abnormality of nervous system morphology Seizures Microcephaly Behavioral abnormality Tags
Green Green List (high evidence)	TMEM237 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Joubert syndrome 14, MIM# 614424 Tags
Green Green List (high evidence)	TMEM240 Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Spinocerebellar ataxia 21, MIM# 607454 Tags
Green Green List (high evidence)	TMEM63A Leukodystrophy v1.12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Expert Review Green Expert list Disease associations Leukodystrophy, hypomyelinating, 19, transient infantile 618688 Tags
Green Green List (high evidence)	TMEM63B Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Developmental and epileptic encephalopathy 118, MIM# 621250 Tags
Green Green List (high evidence)	TMEM63C Hereditary Spastic Paraplegia v2.111	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Spastic paraplegia 87, autosomal recessive, MIM# 619966 Tags
Green Green List (high evidence)	TMEM67 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Joubert syndrome 6, MIM# 610688 Tags
Green Green List (high evidence)	TMEM70 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Disease associations Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM# 614052 Tags
Green Green List (high evidence)	TMPRSS6 Metal Metabolism Disorders v1.1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS Genomic Medicine Service Expert Review Green Genomics England PanelApp Disease associations IRIDA 206200 Iron-refractory iron deficiency anemia 206200 IRON-REFRACTORY IRON DEFICIENCY ANEMIA Tags
Green Green List (high evidence)	TMTC3 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Lissencephaly 8, MIM#617255 Tags
Green Green List (high evidence)	TMX2 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Microcephaly ID brain malformations seizures Tags
Green Green List (high evidence)	TNPO2 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature Disease associations Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies, MIM# 619556 Tags
Green Green List (high evidence)	TNPO2 Dystonia and Chorea v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies, MIM# 619556 Tags
Green Green List (high evidence)	TNPO3 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Muscular dystrophy, limb-girdle, autosomal dominant 2, 608423 Tags
Green Green List (high evidence)	TOGARAM1 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Joubert syndrome 37, MONDO:0030933 Tags
Green Green List (high evidence)	TOMM7 Mitochondrial disease v2.12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Disease associations Garg-Mishra progeroid syndrome, MIM# 620601 Tags
Green Green List (high evidence)	TOP3A Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, MIM#618098 Tags
Green Green List (high evidence)	TOP3A Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, MONDO:0020845 Tags
Green Green List (high evidence)	TOR1A Dystonia and Chorea v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Disease associations Autosomal dominant or sporadic dystonia (DYT1) Early-Onset Primary Dystonia Dystonia-1, torsion, 128100 Tags
Green Green List (high evidence)	TPK1 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Disease associations Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), MIM# 614458 Tags
Green Green List (high evidence)	TPK1 Dystonia and Chorea v1.13	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) Dystonia Tags
Green Green List (high evidence)	TPK1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) MIM#614458 Tags
Green Green List (high evidence)	TPK1 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations childhood encephalopathy due to thiamine pyrophosphokinase deficiency, MONDO:0013761 Tags
Green Green List (high evidence)	TPP1 Early-onset Parkinson disease v3.33	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Ceroid lipofuscinosis, neuronal, 2, MIM# 204500 Parkinsonism Tags
Green Green List (high evidence)	TPP1 Ataxia v2.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Disease associations Autosomal recessive spinocerebellar ataxia 7, 609270 Neuronal ceroid lipofuscinosis, 204500 Spinocerebellar ataxia, autosomal recessive 7, 609270 Ceroid lipofuscinosis, neuronal, 2, 204500 Tags
Green Green List (high evidence)	TPP1 Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Ceroid lipofuscinosis, neuronal, 2, MIM# 204500 MONDO:0008769 Spinocerebellar ataxia, autosomal recessive 7, MIM# 609270 MONDO:0012235 Tags
Green Green List (high evidence)	TPP1 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Ceroid lipofuscinosis, neuronal, 2, MIM# 204500 MONDO:0008769 Tags
Green Green List (high evidence)	TPP2 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Expert Review Green Expert Review Disease associations Immunodeficiency 78 with autoimmunity and developmental delay, MIM# 619220 Tags
Green Green List (high evidence)	TRA2B Genetic Epilepsy v2.60	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Ramond-Elliott neurodevelopmental syndrome, MIM# 621421 Tags
Green Green List (high evidence)	TRAF7 Genetic Epilepsy v2.60	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Cardiac, facial, and digital anomalies with developmental delay, MIM#618164 Tags
Green Green List (high evidence)	TRAK1 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Epileptic encephalopathy, early infantile, 68, MIM# 618201 Tags
Green Green List (high evidence)	TRAK1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Developmental and epileptic encephalopathy 68, MIM# 618201 Tags
Green Green List (high evidence)	TRAPPC10 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with microcephaly, short stature, and speech delay, MIM# 620027 Tags
Green Green List (high evidence)	TRAPPC11 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Muscular dystrophy, limb-girdle, type 2S, 615356 Tags
Green Green List (high evidence)	TRAPPC12 Genetic Epilepsy v2.60	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669 Tags
Green Green List (high evidence)	TRAPPC4 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy, MIM# 618741 Tags
Green Green List (high evidence)	TRAPPC6B Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862 Tags
Green Green List (high evidence)	TRAPPC9 Congenital Disorders of Glycosylation v2.2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder, autosomal recessive 13 MIM#613192 Tags
Green Green List (high evidence)	TREM2 Brain Calcification v3.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, MIM# 618193 Tags
Green Green List (high evidence)	TREM2 Early-onset Dementia v2.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, MIM# 618193 {Alzhieimer disease 17, susceptibility to}, MIM# 615080 Tags
Green Green List (high evidence)	TREM2 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Disease associations Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193 Tags
Green Green List (high evidence)	TREM2 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 MIM#618193 Tags
Green Green List (high evidence)	TREX1 Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750 Disorder of nucleotide metabolism Tags
Green Green List (high evidence)	TREX1 Brain Calcification v3.0	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750 Tags
Green Green List (high evidence)	TREX1 Leukodystrophy v1.12	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750 Tags
Green Green List (high evidence)	TREX1 Early-onset Dementia v2.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations MONDO:0008641 Tags
Green Green List (high evidence)	TREX1 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Aicardi-Goutieres syndrome 1, dominant and recessive Chilblain lupus {Systemic lupus erythematosus, susceptibility to} Vasculopathy, retinal, with cerebral leukodystrophy Tags
Green Green List (high evidence)	TREX1 Dystonia and Chorea v1.13	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Aicardi-Goutieres syndrome 1, dominant and recessive MIM#225750 Tags
Green Green List (high evidence)	TRIM2 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Charcot-Marie-Tooth disease, type 2R, MIM# 615490 MONDO:0014208 HMSN Tags
Green Green List (high evidence)	TRIM32 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Muscular dystrophy, limb-girdle, type 2H, 254110 Tags
Green Green List (high evidence)	TRIM37 Peroxisomal Disorders v1.8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Mulibrey nanism, MIM# 253250 Tags
Green Green List (high evidence)	TRIM8 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Focal segmental glomerulosclerosis and neurodevelopmental syndrome, MIM# 619428 Intellectual disability Seizures Tags
Green Green List (high evidence)	TRIO Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder, autosomal dominant 44, with microcephaly MIM#617061 Intellectual developmental disorder, autosomal dominant 63, with macrocephaly MIM#618825 Tags
Green Green List (high evidence)	TRIP4 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866 Tags
Green Green List (high evidence)	TRIT1 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Combined oxidative phosphorylation deficiency 35, MIM#617873 Tags
Green Green List (high evidence)	TRIT1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Combined oxidative phosphorylation deficiency 35 MIM#617873 Tags
Green Green List (high evidence)	TRMT1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder, autosomal recessive 68 MIM#618302 Tags
Green Green List (high evidence)	TRMT10A Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Literature Disease associations Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033 Tags
Green Green List (high evidence)	TRMT10C Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Combined oxidative phosphorylation deficiency 30, MIM# 616974 Tags
Green Green List (high evidence)	TRMT5 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Combined oxidative phosphorylation deficiency 26, MIM# 616539 Tags
Green Green List (high evidence)	TRMU Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Disease associations Liver failure, transient infantile, MIM# 613070 Tags
Green Green List (high evidence)	TRNT1 Mitochondrial disease v2.12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Disease associations Retinitis pigmentosa and erythrocytic microcytosis, MIM# 616959 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084 Tags
Green Green List (high evidence)	TRPM3 Dystonia and Chorea v1.13	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures, MIM# 620224 Tags
Green Green List (high evidence)	TRPM3 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures, MIM# 620224 Tags
Green Green List (high evidence)	TRPM3 Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092 Tags
Green Green List (high evidence)	TRPM6 Metal Metabolism Disorders v1.1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations Hypomagnesemia 1, intestinal MONDO:0011176, Disorders of magnesium metabolism Tags
Green Green List (high evidence)	TRPM6 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Hypomagnesemia 1, intestinal, MIM#602014 Tags
Green Green List (high evidence)	TRPM7 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Familial primary hypomagnesaemia, MONDO:0018100, TRPM7-related Tags
Green Green List (high evidence)	TRPV4 Hereditary Neuropathy v3.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Disease associations Hereditary motor and sensory neuropathy, type IIc, MIM# 606071 Neuronopathy, distal hereditary motor, type VIII, MIM# 600175 Tags
Green Green List (high evidence)	TRRAP Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Developmental delay with or without dysmorphic facies and autism, MIM#618454 Tags
Green Green List (high evidence)	TSC1 Brain Calcification v3.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Tuberous sclerosis 1, MIM# 191100 Tags
Green Green List (high evidence)	TSC1 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Tuberous sclerosis 1, MIM# 191100 Tags
Green Green List (high evidence)	TSC2 Brain Calcification v3.0	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Tuberous sclerosis 2, MIM# 613254 Tags
Green Green List (high evidence)	TSC2 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Tuberous sclerosis 2, MIM# 613254 Tags
Green Green List (high evidence)	TSEN2 Genetic Epilepsy v2.60	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Pontocerebellar hypoplasia, type 2F, MIM#617026 Tags
Green Green List (high evidence)	TSEN54 Genetic Epilepsy v2.60	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Pontocerebellar hypoplasia type 2A, MIM# 277470 Tags
Green Green List (high evidence)	TSFM Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Disease associations Combined oxidative phosphorylation deficiency 3, MIM# 610505 Tags
Green Green List (high evidence)	TSFM Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Combined oxidative phosphorylation deficiency 3, MIM#610505 Tags
Green Green List (high evidence)	TSFM Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital GeneReviews Disease associations Combined oxidative phosphorylation deficiency 3 Tags
Green Green List (high evidence)	TSFM Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Combined oxidative phosphorylation deficiency 3 610505 Tags
Green Green List (high evidence)	TSPOAP1 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Dystonia, intellectual disability and cerebellar atrophy Tags
Green Green List (high evidence)	TSPOAP1 Dystonia and Chorea v1.13	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Dystonia 22, MIM# 620453 Tags
Green Green List (high evidence)	TSPYL1 Genetic Epilepsy v2.60	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Sudden infant death with dysgenesis of the testes syndrome - 608800 sudden infant death-dysgenesis of the testes syndrome MONDO:0012124 Tags
Green Green List (high evidence)	TTBK2 Ataxia v2.272	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Green Royal Melbourne Hospital Expert Review Green Expert Review Green Victorian Clinical Genetics Services Disease associations Spinocerebellar ataxia 11, 604432 Spinocerebellar ataxia 11 Tags
Green Green List (high evidence)	TTC19 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Disease associations Mitochondrial complex III deficiency nuclear type II, 615157 Mitochondrial complex III deficiency, nuclear type 2, 615157 Tags
Green Green List (high evidence)	TTC19 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Disease associations Mitochondrial complex III deficiency, nuclear type 2, MIM#615157 Tags
Green Green List (high evidence)	TTC19 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Mitochondrial complex III deficiency, nuclear type 2, MIM#615157 Tags
Green Green List (high evidence)	TTI1 Ataxia v2.272	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Neurodevelopmental disorder with microcephaly and movement abnormalities, MIM# 620445 Tags
Green Green List (high evidence)	TTN Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Green Royal Melbourne Hospital Disease associations dilated cardiomyopathy Distal myopathy HMERF Myofibrillar myopathy Congenital myopathy Muscular dystrophy, limb-girdle, type 2J, 608807 arthrogryposis Tags
Green Green List (high evidence)	TTPA Ataxia v2.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Disease associations Ataxia with isolated vitamin E deficiency, MIM# 277460 Tags
Green Green List (high evidence)	TTPA Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Royal Melbourne Hospital Disease associations Ataxia with isolated vitamin E deficiency MIM#277460 Tags
Green Green List (high evidence)	TTPA Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Ataxia with isolated vitamin E deficiency MIM#277460 disorders of vitamins and cofactors Tags
Green Green List (high evidence)	TTR Early-onset Dementia v2.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Amyloidosis, hereditary, transthyretin-related, MIM# 105210 Tags
Green Green List (high evidence)	TTR Pain syndromes v1.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Disease associations Hereditary amyloidosis Amyloidosis, hereditary, transthyretin-related, 105210 Familial amyloid polyneuropathy Carpal tunnel syndrome, familial, 115430 Tags
Green Green List (high evidence)	TTR Hereditary Neuropathy v3.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Disease associations Amyloidosis, hereditary, transthyretin-related MIM#105210 Cardiomyopathy Amyloidogenic transthyretin amyloidosis HSAN/SFN Tags
Green Green List (high evidence)	TUBA1A Genetic Epilepsy v2.60	3 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Lissencephaly 3, MIM# 611603 Tags
Green Green List (high evidence)	TUBA4A Motor Neurone Disease v2.29	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, MIM# 616208 Tags
Green Green List (high evidence)	TUBA4A Hereditary Spastic Paraplegia v2.111	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Hereditary ataxia MONDO:0100309, TUBA4A-related Tags
Green Green List (high evidence)	TUBA4A Ataxia v2.272	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Spastic ataxia 11, autosomal dominant, MIM# 621226 Tags
Green Green List (high evidence)	TUBA4A Early-onset Dementia v2.14	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, MIM# 616208 Tags
Green Green List (high evidence)	TUBB Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Cortical dysplasia, complex, with other brain malformations 6, MIM# 615771 Tags
Green Green List (high evidence)	TUBB2A Genetic Epilepsy v2.60	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Royal Melbourne Hospital Disease associations Cortical dysplasia, complex, with other brain malformations 5, MIM#615763 Tags
Green Green List (high evidence)	TUBB2B Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031 Tags
Green Green List (high evidence)	TUBB3 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039 Tags
Green Green List (high evidence)	TUBB3 Hereditary Neuropathy v3.0	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Disease associations Fibrosis of extraocular muscles, congenital, 3A (MIM#600638) Neuropathy Congenital fibrosis of extraocular muscles 3A2, syndromic, with joint contractures, developmental delay, and peripheral neuropathy, MIM#621666 Tags
Green Green List (high evidence)	TUBB4A Leukodystrophy v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Leukodystrophy, hypomyelinating, 6, MIM# 612438 Tags
Green Green List (high evidence)	TUBB4A Hereditary Spastic Paraplegia v2.111	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Leukodystrophy, hypomyelinating, 6, MIM# 612438 Tags
Green Green List (high evidence)	TUBB4A Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Leukodystrophy, hypomyelinating, 6, OMIM # 612438 Tags
Green Green List (high evidence)	TUBB4A Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Disease associations Leukodystrophy, hypomyelinating, 6, 612438 Dystonia 4, 128101, Hypomyelinating leukodystrophy 6, 612438 Dystonia 4, torsion, autosomal dominant, 128101 Tags
Green Green List (high evidence)	TUBB4A Dystonia and Chorea v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Disease associations hereditary whispering dysphonia Dystonia 4, torsion, autosomal dominant, 128101 Dystonia Tags
Green Green List (high evidence)	TUBG1 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Cortical dysplasia, complex, with other brain malformations 4, MIM# 615412 Tags
Green Green List (high evidence)	TUBGCP2 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM # 618737 Tags
Green Green List (high evidence)	TUBGCP6 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Microcephaly and chorioretinopathy, autosomal recessive, 1 - 251270 Epilepsy Tags
Green Green List (high evidence)	TUFM Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Combined oxidative phosphorylation deficiency 4, OMIM #610678 MONDO:0012534 Tags
Green Green List (high evidence)	TUFM Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Combined oxidative phosphorylation deficiency 4, MIM# 610678 Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	TUSC3 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Mental retardation, autosomal recessive 7, MIM# 611093, MONDO:0012615 TUSC3-CDG (Disorders of protein N-glycosylation) Tags SV/CNV
Green Green List (high evidence)	TWNK Mitochondrial disease v2.12	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245 Perrault syndrome 5 616138 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 609286 Tags
Green Green List (high evidence)	TWNK Ataxia v2.272	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Mitochondrial DNA depletion syndrome 7, 271245 Ataxia Neuropathy Spectrum Disorders, Dominant Progressive external ophthalmoplegia with mitochondrial DNA deletions, 609286 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286 Perrault syndrome 5, 616138 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 Spinocerebellar Ataxia, Recessive Tags
Green Green List (high evidence)	TWNK Genetic Epilepsy v2.60	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) MIM#271245 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 MIM#609286 Tags
Green Green List (high evidence)	TWNK Rhabdomyolysis and Metabolic Myopathy v2.0	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 MIM#609286 Tags
Green Green List (high evidence)	TWNK Early-onset Parkinson disease v3.33	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 MIM#609286 Tags
Green Green List (high evidence)	TWNK Hereditary Neuropathy v3.0	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Perrault syndrome (MIM#616138) Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, MIM# 609286 Tags
Green Green List (high evidence)	TXNIP Miscellaneous Metabolic Disorders v2.3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Disease associations Metabolic disease MONDO:0005066, TXNIP-related Tags
Green Green List (high evidence)	TXNIP Mitochondrial disease v2.12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Literature Literature Disease associations Metabolic disease MONDO:0005066, TXNIP-related Tags
Green Green List (high evidence)	TYMP Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Disease associations Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041 Tags
Green Green List (high evidence)	TYMP Hereditary Neuropathy v3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Mitochondrial DNA depletion syndrome 1 (MNGIE type) HMSN Tags
Green Green List (high evidence)	TYMP Leukodystrophy v1.12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Disease associations Mitochondrial DNA depletion syndrome 1 (MNGIE type) Mitochondrial Leukoencephalopathy Tags
Green Green List (high evidence)	TYROBP Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Disease associations Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770 Tags
Green Green List (high evidence)	TYROBP Brain Calcification v3.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, MIM# 221770 Tags
Green Green List (high evidence)	TYROBP Early-onset Dementia v2.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 (MIM#221770) Tags
Green Green List (high evidence)	U2AF2 Genetic Epilepsy v2.60	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert list Literature Disease associations Developmental delay, dysmorphic facies, and brain anomalies, MIM# 620535 Tags
Green Green List (high evidence)	UBA1 Hereditary Neuropathy v3.0	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Royal Melbourne Hospital Disease associations dHMN/dSMA Spinal muscular atrophy, X-linked 2, MIM# 301830 Tags
Green Green List (high evidence)	UBA5 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Epileptic encephalopathy, early infantile, 44 (MIM#617132) Tags
Green Green List (high evidence)	UBAP1 Hereditary Spastic Paraplegia v2.111	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Childhood-onset hereditary spastic paraplegia Spastic paraplegia 80, autosomal dominant 618418 Tags
Green Green List (high evidence)	UBAP2L Genetic Epilepsy v2.60	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies, MIM# 620494 Delayed speech and language development Motor delay Intellectual disability Autistic behavior Seizures Microcephaly Abnormality of head or neck Short stature Abnormality of the skeletal system Tags
Green Green List (high evidence)	UBE2A Genetic Epilepsy v2.60	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Intellectual developmental disorder, X-linked syndromic, Nascimento type 300860 Tags
Green Green List (high evidence)	UBE3A Genetic Epilepsy v2.60	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Angelman syndrome, MIM#105830 Tags
Green Green List (high evidence)	UBQLN2 Motor Neurone Disease v2.29	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Amyotrophic lateral sclerosis type 15 (MONDO:0010459 MIM#300857) Tags
Green Green List (high evidence)	UBQLN2 Early-onset Dementia v2.14	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (MIM#300857) Tags
Green Green List (high evidence)	UBR5 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with speech delay and behavioral abnormalities, MIM# 621372 Tags
Green Green List (high evidence)	UBR7 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Li-Campeau syndrome, MIM# 619189 Intellectual disability epilepsy hypothyroidism congenital anomalies dysmorphic features Tags
Green Green List (high evidence)	UBTF Ataxia v2.272	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672 MONDO:0044701 Tags
Green Green List (high evidence)	UBTF Dystonia and Chorea v1.13	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672 MONDO:0044701 Tags
Green Green List (high evidence)	UBTF Early-onset Parkinson disease v3.33	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672 Parkinsonism Dystonia Chorea Brain atrophy Tags
Green Green List (high evidence)	UCHL1 Ataxia v2.272	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Disease associations Spastic paraplegia 79, autosomal recessive, MIM#615491 Neurodegenerative disease, MONDO:0005559, UCHL1-related Tags
Green Green List (high evidence)	UCHL1 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Spastic paraplegia 79A, autosomal dominant, MIM# 620221 Spastic paraplegia 79, autosomal recessive, 615491 MONDO:0014209 Neurodegenerative disease, MONDO:0005559, UCHL1-related Tags
Green Green List (high evidence)	UCHL1 Hereditary Neuropathy v3.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodegenerative disease, MONDO:0005559, UCHL1-related Tags
Green Green List (high evidence)	UFM1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Leukodystrophy, hypomyelinating, 14, MIM# 617899 Tags
Green Green List (high evidence)	UFM1 Leukodystrophy v1.12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Expert list Disease associations Leukodystrophy, hypomyelinating, 14 617899 Tags
Green Green List (high evidence)	UFSP2 Genetic Epilepsy v2.60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Developmental and epileptic encephalopathy 106, MIM# 620028 Abnormal muscle tone Seizures Global developmental delay Delayed speech and language development Intellectual disability Strabismus Tags founder
Green Green List (high evidence)	UGDH Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Literature Disease associations Epileptic encephalopathy, early infantile, 84 - MIM #618792 Tags
Green Green List (high evidence)	UGGT1 Genetic Epilepsy v2.60	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Congenital disorder of glycosylation, type IICC, MIM# 621381 Tags
Green Green List (high evidence)	UGGT1 Congenital Disorders of Glycosylation v2.2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Congenital disorder of glycosylation, type IICC, MIM# 621381 Tags
Green Green List (high evidence)	UGP2 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Epileptic encephalopathy intellectual disability microcephaly Tags
Green Green List (high evidence)	UGT1A1 Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Bilirubin UDP-glucuronosyltransferase 1 deficiency (Disorders of bile acid metabolism and transport) Crigler-Najjar syndrome, type I 218800 Crigler-Najjar syndrome, type II 606785 Tags
Green Green List (high evidence)	UMPS Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Orotic aciduria, MIM# 258900 Tags
Green Green List (high evidence)	UMPS Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert list Expert Review Green Expert Review Victorian Clinical Genetics Services Disease associations Orotic aciduria - 258900 Epilepsy Tags
Green Green List (high evidence)	UNC13A Genetic Epilepsy v2.60	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Disease associations Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456 Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455 Intellectual development disorder with seizures and dysmorphic facies, MIM# 621457 Tags
Green Green List (high evidence)	UNC13A Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456 Tags
Green Green List (high evidence)	UNC45B Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Literature Disease associations Myofibrillar myopathy 11 (MIM#619178) Tags
Green Green List (high evidence)	UNC79 Genetic Epilepsy v2.60	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder (MONDO:0700092), UNC79-related Tags
Green Green List (high evidence)	UNC80 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801 MONDO:0014777 Tags
Green Green List (high evidence)	UPB1 Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Beta-ureidopropionase deficiency, MIM# 613161 Tags
Green Green List (high evidence)	UQCC2 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex III deficiency, nuclear type 7 - MIM#615824 Tags
Green Green List (high evidence)	UQCRB Mitochondrial disease v2.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex III deficiency, nuclear type 3, MIM# 615158 Tags
Green Green List (high evidence)	UQCRC1 Early-onset Parkinson disease v3.33	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Parkinsonism with polyneuropathy, MONDO:0036193 Tags
Green Green List (high evidence)	UQCRC2 Mitochondrial disease v2.12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex III deficiency, nuclear type 5, MIM# 615160 Tags
Green Green List (high evidence)	UQCRFS1 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Mitochondrial Complex III deficiency lactic acidosis fetal bradycardia hypertrophic cardiomyopathy alopecia totalis Tags
Green Green List (high evidence)	USP18 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Pseudo-TORCH syndrome 2, MIM#617397 Tags treatable
Green Green List (high evidence)	USP18 Brain Calcification v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Pseudo-TORCH syndrome 2, MIM# 617397 Tags
Green Green List (high evidence)	VAC14 Dystonia and Chorea v1.13	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Striatonigral degeneration, childhood-onset 617054 Tags
Green Green List (high evidence)	VAC14 Early-onset Parkinson disease v3.33	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Striatonigral degeneration, childhood-onset, MIM# 617054 Dystonia Parkinsonism Tags
Green Green List (high evidence)	VAMP2 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 618760 Cortical visual impairment Seizures Stereotypic behaviour Generalized hypotonia Intellectual disability Tags
Green Green List (high evidence)	VAMP2 Dystonia and Chorea v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 618760 Dystonia Cortical visual impairment Seizures Stereotypic behaviour Generalized hypotonia Intellectual disability Tags
Green Green List (high evidence)	VAPB Motor Neurone Disease v2.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Spinal muscular atrophy, late-onset, Finkel type (MIM# 182980) Amyotrophic lateral sclerosis 8 Tags founder
Green Green List (high evidence)	VAPB Hereditary Neuropathy v3.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Disease associations Spinal muscular atrophy, late-onset, Finkel type, MIM# 182980 Tags
Green Green List (high evidence)	VARS1 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy OMIM #617802 Tags
Green Green List (high evidence)	VARS2 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Expert list Victorian Clinical Genetics Services Disease associations Combined oxidative phosphorylation deficiency 20, 615917 Epilepsy Tags
Green Green List (high evidence)	VARS2 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Combined oxidative phosphorylation deficiency 20 OMIM #615917 Tags
Green Green List (high evidence)	VCP Mitochondrial disease v2.12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Disease associations inclusion body myopathy with Paget disease of bone and frontotemporal dementia MONDO:0000507 Disorders of mitochondrial protein quality control Tags
Green Green List (high evidence)	VCP Early-onset Parkinson disease v3.33	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Inclusion body myopathy with Paget disease of bone and frontotemporal dementia MONDO:0000507 Tags
Green Green List (high evidence)	VCP Early-onset Dementia v2.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 (MIM#167320) Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (MIM#613954) Tags
Green Green List (high evidence)	VCP Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Disease associations Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 167320 Tags
Green Green List (high evidence)	VCP Hereditary Neuropathy v3.0	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Disease associations Charcot-Marie-Tooth disease, type 2Y, MIM# 616687 Tags
Green Green List (high evidence)	VCP Motor Neurone Disease v2.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (ALS) (MIM#613954) Tags
Green Green List (high evidence)	VIPAS39 Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Arthrogryposis, renal dysfunction, and cholestasis 2, MIM# 613404 Tags
Green Green List (high evidence)	VLDLR Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Disease associations Cerebellar ataxia, mental retardation and dysequilibirum syndrome 1, 224050 Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 Tags
Green Green List (high evidence)	VMA12 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Congenital disorder of glycosylation, type IIp MIM# 616829 Tags
Green Green List (high evidence)	VMA21 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert Review Disease associations Myopathy, X-linked, with excessive autophagy (MIM#310440) Tags deep intronic
Green Green List (high evidence)	VMA21 Congenital Disorders of Glycosylation v2.2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Disease associations Myopathy, X-linked, with excessive autophagy (MIM#310440) Tags
Green Green List (high evidence)	VMA22 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Congenital disorder of glycosylation, type IIo (MIM# 616828) Tags
Green Green List (high evidence)	VPS11 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Leukodystrophy, hypomyelinating, 12, MIM#616683 Tags founder
Green Green List (high evidence)	VPS11 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Leukodystrophy, hypomyelinating, 12, MIM#616683 Tags founder
Green Green List (high evidence)	VPS13A Dystonia and Chorea v1.13	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations complex parkinsonism Choreoacanthocytosis 200150 Tags
Green Green List (high evidence)	VPS13A Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations chorea-acanthocytosis MONDO:0008695 Tags
Green Green List (high evidence)	VPS13A Early-onset Dementia v2.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green Disease associations Choreoacanthocytosis MIM#200150 Tags
Green Green List (high evidence)	VPS13A Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Choreoacanthocytosis MIM#200150 Tags
Green Green List (high evidence)	VPS13A Early-onset Parkinson disease v3.33	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations chorea-acanthocytosis MONDO:0008695 Tags
Green Green List (high evidence)	VPS13A Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations VPS13A-related neurodegenerative disease, MONDO:0008695 Tags
Green Green List (high evidence)	VPS13C Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Early-onset Parkinson disease-23, MIM# 616840 Tags
Green Green List (high evidence)	VPS13C Early-onset Dementia v2.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations autosomal recessive early-onset Parkinson disease 23 MONDO:0014796 Tags
Green Green List (high evidence)	VPS13C Early-onset Parkinson disease v3.33	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Parkinson disease 23, autosomal recessive, early onset MIM#616840 Tags
Green Green List (high evidence)	VPS13D Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Spinocerebellar ataxia, autosomal recessive 4, MIM# 607317 Tags
Green Green List (high evidence)	VPS13D Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Spinocerebellar ataxia, autosomal recessive 4, MIM# 607317 Tags
Green Green List (high evidence)	VPS13D Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Spinocerebellar ataxia, autosomal recessive 4, MIM# 607317 Tags
Green Green List (high evidence)	VPS16 Dystonia and Chorea v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Dystonia 30, MIM#619291 Tags
Green Green List (high evidence)	VPS16 Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations mucopolysaccharidosis-like disorder, VPS16-related MONDO#0100365 Tags
Green Green List (high evidence)	VPS33A Lysosomal Storage Disorder v2.2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Mucopolysaccharidosis-plus syndrome (MIM#617303) Tags
Green Green List (high evidence)	VPS33B Lysosomal Storage Disorder v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Arthrogryposis, renal dysfunction, and cholestasis 1, MIM# 208085 Tags
Green Green List (high evidence)	VPS35 Early-onset Dementia v2.14	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green Disease associations {Parkinson disease 17} MIM#614203 Cognitive decline Tags
Green Green List (high evidence)	VPS35 Early-onset Parkinson disease v3.33	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Parkinson disease 17, MIM# 614203 Tags
Green Green List (high evidence)	VPS41 Ataxia v2.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Spinocerebellar ataxia-29 (SCAR29), MIM#619389 Progressive neurodevelopmental disorder with ataxia, hypotonia, dystonia, intellectual disability and speech delay Tags
Green Green List (high evidence)	VPS41 Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Spinocerebellar ataxia-29 (SCAR29), MIM#619389 Progressive neurodevelopmental disorder with ataxia, hypotonia, dystonia, intellectual disability and speech delay Tags
Green Green List (high evidence)	VPS4A Genetic Epilepsy v2.60	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations CIMDAG syndrome MIM# 619273 Tags
Green Green List (high evidence)	VPS4A Dystonia and Chorea v1.13	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations CIMDAG syndrome MIM# 619273 Tags
Green Green List (high evidence)	VPS50 Genetic Epilepsy v2.60	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis , MIM#619685 Neonatal cholestatic liver disease Failure to thrive Profound global developmental delay Postnatal microcephaly Seizures Abnormality of the corpus callosum Tags
Green Green List (high evidence)	VPS51 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Disease associations Pontocerebellar hypoplasia, type 13, MIM# 618606 Tags
Green Green List (high evidence)	VRK1 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Neuronopathy, distal hereditary motor, autosomal recessive 10, MIM# 620542 Tags
Green Green List (high evidence)	VRK1 Motor Neurone Disease v2.29	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Adult-onset spinal muscular atrophy without pontocerebellar hypoplasia Distal hereditary motor neuropathy dHMN/dSMA Tags
Green Green List (high evidence)	VWA1 Hereditary Neuropathy v3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Disease associations Neuronopathy, distal hereditary motor, autosomal recessive 7, MIM# 619216 Tags
Green Green List (high evidence)	VWA1_HMNMYO_GCGCGGAGCG STR Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Literature Literature Disease associations Neuropathy, hereditary motor, with myopathic features MIM#619216 Tags paediatric-onset
Green Green List (high evidence)	VWA3B Ataxia v2.272	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green GeneReviews Royal Melbourne Hospital Royal Melbourne Hospital GeneReviews Disease associations Spinocerebellar ataxia, autosomal recessive 22 MIM#616948 Tags
Green Green List (high evidence)	WAC Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Desanto-Shinawi syndrome MIM#616708 Tags
Green Green List (high evidence)	WARS1 Leukodystrophy v1.12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder withmicrocephaly and speech delay, with or without brain abnormalities,MIM# 620317 Tags
Green Green List (high evidence)	WARS2 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Parkinsonism-dystonia 3, childhood-onset, MIM# 619738 Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM# 617710 Tags
Green Green List (high evidence)	WARS2 Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Parkinsonism-dystonia 3, childhood-onset, MIM# 619738 Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM# 617710 Tags
Green Green List (high evidence)	WARS2 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM#617710 Tags
Green Green List (high evidence)	WARS2 Early-onset Parkinson disease v3.33	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Parkinsonism-dystonia 3, childhood-onset, MIM# 619738 Tags
Green Green List (high evidence)	WARS2 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM#617710 Tags
Green Green List (high evidence)	WARS2 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Disease associations Parkinsonism-dystonia 3, childhood-onset, MIM# 619738 Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM# 617710 Tags
Green Green List (high evidence)	WASF1 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Neurodevelopmental disorder with absent language and variable seizures , MIM#618707 Tags
Green Green List (high evidence)	WASHC5 Hereditary Spastic Paraplegia v2.111	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Disease associations Spastic paraplegia 8, autosomal dominant, 603563 MONDO:0011339 Tags
Green Green List (high evidence)	WDR26 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Skraban-Deardorff syndrome MIM# 617616 Tags
Green Green List (high evidence)	WDR37 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Neurooculocardiogenitourinary syndrome, MIM# 618652 Tags
Green Green List (high evidence)	WDR45 Genetic Epilepsy v2.60	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Neurodegeneration with brain iron accumulation 5, MIM# 300894 Rett syndrome Rett-like phenotypes Tags
Green Green List (high evidence)	WDR45 Neurodegeneration with brain iron accumulation v2.0	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources GeneReviews Expert Review Green Disease associations Beta-propeller protein-associated neurodegeneration (BPAN) Tags
Green Green List (high evidence)	WDR45 Lysosomal Storage Disorder v2.2	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Disease associations Disorders of autophagy X-linked complex neurodevelopmental disorder MONDO:0100148 Tags
Green Green List (high evidence)	WDR45 Miscellaneous Metabolic Disorders v2.3	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert list Disease associations Neurodegeneration with brain iron accumulation 5, MIM# 300894 Tags
Green Green List (high evidence)	WDR45 Early-onset Dementia v2.14	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert list Disease associations Neurodegeneration with brain iron accumulation 5 MIM#300894 Tags
Green Green List (high evidence)	WDR45 Dystonia and Chorea v1.13	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Royal Melbourne Hospital Disease associations Neurodegeneration with brain iron accumulation 5 300894 beta-propeller protein-associated neurodegeneration Dystonia Tags
Green Green List (high evidence)	WDR45 Early-onset Parkinson disease v3.33	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations X-linked complex neurodevelopmental disorder MONDO:0100148 Tags
Green Green List (high evidence)	WDR45B Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, MIM#617977 Tags
Green Green List (high evidence)	WDR45B Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, MIM# 617977 Tags
Green Green List (high evidence)	WDR47 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Complex neurodevelopmental disorder MONDO:0100038, WDR47-related Tags
Green Green List (high evidence)	WDR62 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM# 604317 MONDO:0011435 Tags
Green Green List (high evidence)	WDR73 Dystonia and Chorea v1.13	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Galloway-Mowat syndrome 1, 251300 Tags
Green Green List (high evidence)	WDR73 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Galloway-Mowat syndrome 1 MIM#251300 Tags
Green Green List (high evidence)	WDR73 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Disease associations Galloway Mowat syndrome, when patients are ambulant ataxia is a recognisednfeature Galloway-Mowat Syndrome 1, 251300 Tags
Green Green List (high evidence)	WDR81 Ataxia v2.272	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Red Expert list Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Congenital hydrocephalus 3 with brain anomalies, 617967 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 Cerebellar ataxia, mental retardation and dysequilibrium syndrome 2, 610185 Tags
Green Green List (high evidence)	WFS1 Ataxia v2.272	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Wolfram syndrome 1, 222300 Tags
Green Green List (high evidence)	WNK1 Pain syndromes v1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Disease associations Neuropathy, hereditary sensory and autonomic, type II, 201300 HSAN 2 Hereditary sensory and autonomic neuropathy type IIA Tags
Green Green List (high evidence)	WNK1 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations HSAN/SFN Neuropathy, hereditary sensory and autonomic, type II, MIM# 201300 MONDO:0024309 Tags
Green Green List (high evidence)	WNK3 Genetic Epilepsy v2.60	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Expert Review Green Disease associations Prieto syndrome, MIM# 309610 Tags
Green Green List (high evidence)	WSB2 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Luo-Agrawal neurodevelopmental syndrome, MIM# 621552 Tags
Green Green List (high evidence)	WWOX Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Developmental and epileptic encephalopathy 28, MIM# 616211 Tags SV/CNV
Green Green List (high evidence)	WWOX Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Disease associations Autosomal recessive spinocerebellar ataxia 12, 6143232 Early infantile epileptic encephalopathy 28, 616211 Autosomal recessive spinocerebellar ataxia 12, 614322 Tags
Green Green List (high evidence)	XK Hereditary Neuropathy v3.0	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Disease associations McLeod syndrome with or without chronic granulomatous disease (MIM#300842) Tags
Green Green List (high evidence)	XK Early-onset Dementia v2.14	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations McLeod syndrome with or without chronic granulomatous disease (MIM#300842) Tags
Green Green List (high evidence)	XK Dystonia and Chorea v1.13	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert list Disease associations McLeod syndrome with or without chronic granulomatous disease MIM#300842 Tags
Green Green List (high evidence)	XPA Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations xeroderma pigmentosum group A, MONDO:0010210 Tags
Green Green List (high evidence)	XPR1 Early-onset Parkinson disease v3.33	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Basal ganglia calcification, idiopathic, 6, MIM# 616413 Tags
Green Green List (high evidence)	XPR1 Brain Calcification v3.0	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Basal ganglia calcification, idiopathic, 6, MIM# 616413 Tags
Green Green List (high evidence)	XRCC1 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Spinocerebellar ataxia, autosomal recessive 26 MIM#617633 Tags
Green Green List (high evidence)	XRCC1 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Spinocerebellar ataxia, autosomal recessive 26 MIM#617633 Tags founder
Green Green List (high evidence)	XYLT1 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Desbuquois dysplasia 2, MIM# 615777 Baratela-Scott syndrome Tags STR SV/CNV
Green Green List (high evidence)	XYLT1_DBQD2_GGC STR Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Desbuquois dysplasia 2 MIM#615777 Tags
Green Green List (high evidence)	XYLT2 Congenital Disorders of Glycosylation v2.2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Spondyloocular syndrome MIM# 605822 Tags
Green Green List (high evidence)	YARS1 Hereditary Neuropathy v3.0	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Disease associations Charcot-Marie-Tooth disease, dominant intermediate C, MIM# 608323 MONDO:0012012 Tags
Green Green List (high evidence)	YARS1 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2, MONDO:0030375 Tags
Green Green List (high evidence)	YARS2 Rhabdomyolysis and Metabolic Myopathy v2.0	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations Myopathy, lactic acidosis, and sideroblastic anemia 2 MIM#613561 Tags
Green Green List (high evidence)	YARS2 Mitochondrial disease v2.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Myopathy, lactic acidosis, and sideroblastic anaemia 2 MIM# 613561 sideroblastic anaemia muscle atrophy myopathy lactic acidosis Hypertrophic cardiomyopathy Hepatomegaly Decreased cytochrome C oxidase activity Tags
Green Green List (high evidence)	YIF1B Genetic Epilepsy v2.60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Kaya-Barakat-Masson syndrome, MIM# 619125 Central hypotonia Failure to thrive Microcephaly Global developmental delay Intellectual disability Seizures Spasticity Abnormality of movement Tags
Green Green List (high evidence)	YIF1B Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Kaya-Barakat-Masson syndrome, MIM# 619125 Central hypotonia Failure to thrive Microcephaly Global developmental delay Intellectual disability Seizures Spasticity Abnormality of movement Tags
Green Green List (high evidence)	YIPF5 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278 Tags
Green Green List (high evidence)	YWHAG Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Developmental and epileptic encephalopathy 56, (MIMI#617665) Tags
Green Green List (high evidence)	YY1 Dystonia and Chorea v1.13	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Disease associations Gabriele-de Vries syndrome 617557 Tags
Green Green List (high evidence)	YY1AP1 Cerebral vascular malformations v2.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Genomics England PanelApp Expert Review Green Expert Review Green Victorian Clinical Genetics Services Disease associations Grange syndrome, 602531 Tags
Green Green List (high evidence)	ZBTB11 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations intellectual developmental disorder, autosomal recessive 69, MONDO:0032715 Tags
Green Green List (high evidence)	ZBTB18 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Mental retardation, autosomal dominant 22, MIM# 612337 Tags
Green Green List (high evidence)	ZBTB20 Brain Calcification v3.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Primrose syndrome, MIM# 259050 Tags
Green Green List (high evidence)	ZBTB47 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder (MONDO#0700092), ZBTB47-related Tags
Green Green List (high evidence)	ZC4H2 Hereditary Neuropathy v3.0	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Disease associations Wieacker-Wolff syndrome, MONDO:0010758 Tags
Green Green List (high evidence)	ZDHHC9 Genetic Epilepsy v2.60	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Disease associations Mental retardation, X-linked syndromic, Raymond type, MIM#300799 Tags
Green Green List (high evidence)	ZEB2 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Mowat-Wilson syndrome, MIM# 235730 MONDO:0009341 Tags SV/CNV
Green Green List (high evidence)	ZFHX3 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations {Epilepsy, idiopathic generalized, susceptibility to}, MIM#621500 Tags
Green Green List (high evidence)	ZFHX3_SCA4_GGC STR Hereditary Neuropathy v3.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations spinocerebellar ataxia type 4 MONDO:0010847 Tags
Green Green List (high evidence)	ZFHX3_SCA4_GGC STR Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Expert Review Green Literature Disease associations spinocerebellar ataxia type 4 MONDO:0010847 Tags
Green Green List (high evidence)	ZFYVE26 Early-onset Parkinson disease v3.33	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Spastic paraplegia 15, autosomal recessive, MIM# 270700 Spastic paraplegia and retinal degeneration Kjellin syndrome Parkinsonism Tags
Green Green List (high evidence)	ZFYVE26 Hereditary Neuropathy v3.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Disease associations Spastic paraplegia 15 MIM#270700 Tags
Green Green List (high evidence)	ZFYVE26 Lysosomal Storage Disorder v2.2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Disease associations Disorders of autophagy hereditary spastic paraplegia 15 MONDO:0010044 Tags
Green Green List (high evidence)	ZFYVE26 Leukodystrophy v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Spastic paraplegia 15, autosomal recessive, MIM# 270700 Tags
Green Green List (high evidence)	ZFYVE26 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Royal Melbourne Hospital Disease associations Autosomal recessive spastic paraplegia 15, 270700 Tags
Green Green List (high evidence)	ZFYVE26 Hereditary Spastic Paraplegia v2.111	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Spastic paraplegia 15, autosomal recessive, MIM# 270700 Tags
Green Green List (high evidence)	ZMYND11 Genetic Epilepsy v2.60	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations Mental retardation, autosomal dominant 30 MIM# 616083 Tags
Green Green List (high evidence)	ZMYND8 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Disease associations Neurodevelopmental disorder, MONDO:0700092, ZMYND8-related Delayed speech and language development Motor delay Intellectual disability Abnormality of cardiovascular system morphology Hearing abnormality Abnormality of vision Abnormality of the face Seizures Tags
Green Green List (high evidence)	ZNF142 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Neurodevelopmental disorder with impaired speech and hyperkinetic movements, MIM#618425 Tags
Green Green List (high evidence)	ZNF335 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Microcephaly 10, primary, autosomal recessive (MIM#615095) Tags
Green Green List (high evidence)	ZNF526 Genetic Epilepsy v2.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Dentici-Novelli neurodevelopmental syndrome, MIM# 619877 Tags
Green Green List (high evidence)	ZNF526 Dystonia and Chorea v1.13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Dentici-Novelli neurodevelopmental syndrome, MIM# 619877 Tags
Green Green List (high evidence)	ZNF536 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, ZNF536-related Tags
Green Green List (high evidence)	ZNHIT3 Genetic Epilepsy v2.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations PEHO syndrome, MIM# 260565 Tags founder
Green Green List (high evidence)	ZSWIM6 Genetic Epilepsy v2.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Acromelic frontonasal dysostosis MIM#603671 Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features MIM#617865 Tags
Amber Amber List (moderate evidence)	AARS2 Genetic Epilepsy v2.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Combined oxidative phosphorylation deficiency 8, 614096 Leukoencephalopathy progressive with ovarian failure, 615889 Tags
Amber Amber List (moderate evidence)	AASS Miscellaneous Metabolic Disorders v2.3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Victorian Clinical Genetics Services Disease associations Hyperlysinemia, MIM# 238700 Tags disputed
Amber Amber List (moderate evidence)	ABCC9 Leukodystrophy v1.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Intellectual disability and myopathy syndrome, MIM# 619719 Tags
Amber Amber List (moderate evidence)	ABHD16A Genetic Epilepsy v2.60	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Spastic paraplegia 86, autosomal recessive, MIM# 619735 seizures myoclonic seizures developmental delay Tags
Amber Amber List (moderate evidence)	ABI2 Genetic Epilepsy v2.60	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, ABI2-related Tags
Amber Amber List (moderate evidence)	ACADS Fatty Acid Oxidation Defects v2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Disease associations Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470 MONDO:0008722 Tags
Amber Amber List (moderate evidence)	ACADS Mitochondrial disease v2.12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature NHS GMS Disease associations Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470 MONDO:0008722 Tags
Amber Amber List (moderate evidence)	ACADVL Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Expert Review Green Expert list Disease associations VLCAD deficiency 201475 Tags
Amber Amber List (moderate evidence)	ACOX1 Ataxia v2.272	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Mitchell syndrome, MONDO:0030073 Tags
Amber Amber List (moderate evidence)	ACSF3 Miscellaneous Metabolic Disorders v2.3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Disease associations Combined malonic and methylmalonic aciduria MIM#614265 Tags
Amber Amber List (moderate evidence)	ADA2 Cerebral vascular malformations v2.0	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Genomics England PanelApp Expert Review Amber Victorian Clinical Genetics Services Disease associations Sneddon syndrome 182410 Polyarteritis nodosa Tags
Amber Amber List (moderate evidence)	ADAM17 Early-onset Dementia v2.14	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Alzheimer disease MONDO:0004975 Tags
Amber Amber List (moderate evidence)	ADAM23 Genetic Epilepsy v2.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Neonatal-onset developmental and epileptic encephalopathy, MONDO:0100455, ADAM23-related Tags
Amber Amber List (moderate evidence)	ADAT3 Genetic Epilepsy v2.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations Mental retardation autosomal recessive 36, 615286 Tags
Amber Amber List (moderate evidence)	ADGRL1 Genetic Epilepsy v2.60	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Disease associations Developmental delay, behavioral abnormalities, and neuropsychiatric disorders, MIM# 620065 Tags
Amber Amber List (moderate evidence)	AFG3L2 Dystonia and Chorea v1.13	3 reviews 1 green 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations Spastic ataxia 5, autosomal recessive MIM#614487 Early-onset dystonia Tags
Amber Amber List (moderate evidence)	AFG3L2 Early-onset Parkinson disease v3.33	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Spinocerebellar ataxia 28, MIM# 610246 optic atrophy spastic ataxia L-dopa-responsive parkinsonism Tags
Amber Amber List (moderate evidence)	ALK Hereditary Spastic Paraplegia v2.111	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Spastic-dystonic diplegia Tags
Amber Amber List (moderate evidence)	ALK Dystonia and Chorea v1.13	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Spastic-dystonic diplegia Tags
Amber Amber List (moderate evidence)	ANG Motor Neurone Disease v2.29	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Amyotrophic Lateral Sclerosis 9 (MONDO: 0012753 MIM#611895) Tags
Amber Amber List (moderate evidence)	ANO1 Cerebral vascular malformations v2.0	5 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Literature Disease associations Moyamoya disease 7, MIM# 620687 Tags
Amber Amber List (moderate evidence)	ANXA11 Leukodystrophy v1.12	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Expert Review Amber Expert Review Disease associations Inclusion body myopathy and brain white matter abnormalities, MIM# 619733 Tags founder
Amber Amber List (moderate evidence)	ANXA11 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Literature Disease associations Inclusion body myopathy and brain white matter abnormalities, MIM# 619733 Tags
Amber Amber List (moderate evidence)	AP1S2 Neurodegeneration with brain iron accumulation v2.0	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Expert list Disease associations Pettigrew syndrome, MIM# 304340 Tags
Amber Amber List (moderate evidence)	AP3D1 Genetic Epilepsy v2.60	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Hermansky-Pudlak syndrome 10, MIM# 617050 Tags
Amber Amber List (moderate evidence)	AP4M1 Neurodegeneration with brain iron accumulation v2.0	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Literature Disease associations Spastic paraplegia 50, autosomal recessive, MIM# 612936 Tags
Amber Amber List (moderate evidence)	APOE Early-onset Dementia v2.14	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Alzheimer disease 2, MIM# 104310 Tags
Amber Amber List (moderate evidence)	APOO Mitochondrial disease v2.12	3 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Literature Disease associations Mitochondrial disease, MONDO:0044970, APOO-related Developmental delay Lactic acidosis Muscle weakness Hypotonia Repetitive infections Cognitive impairment Autistic behaviour Tags
Amber Amber List (moderate evidence)	APP Early-onset Parkinson disease v3.33	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Alzheimer disease 1, familial, MIM# 104300 Tags
Amber Amber List (moderate evidence)	AQP4 Genetic Epilepsy v2.60	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448 Tags
Amber Amber List (moderate evidence)	AQP4 Leukodystrophy v1.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448 Tags
Amber Amber List (moderate evidence)	ARFGEF3 Dystonia and Chorea v1.13	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Amber Expert Review Amber Literature Disease associations Dystonia, MONDO:0044807, ARFGEF3-related Tags
Amber Amber List (moderate evidence)	ARHGEF10 Hereditary Neuropathy v3.0	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Royal Melbourne Hospital Royal Melbourne Hospital Disease associations Slowed nerve conduction velocity, MIM# 608236 Tags
Amber Amber List (moderate evidence)	ARPC3 Hereditary Neuropathy v3.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Literature Disease associations Charcot-Marie-Tooth disease MONDO:0015626 Tags
Amber Amber List (moderate evidence)	ARPP21 Motor Neurone Disease v2.29	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber ClinGen Disease associations amyotrophic lateral sclerosis MONDO:0004976 Tags
Amber Amber List (moderate evidence)	ASL Ataxia v2.272	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations argininosuccinic aciduria, MONDO:0008815 Tags
Amber Amber List (moderate evidence)	ASPH Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Expert Review Green Victorian Clinical Genetics Services Disease associations Exertional heat illness malignant hyperthermia susceptibility, MONDO:0018493, ASPH-related Tags
Amber Amber List (moderate evidence)	ATG12 Ataxia v2.272	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder with seizures and cerebellar hypoplasia, MIM#621710 Tags
Amber Amber List (moderate evidence)	ATG5 Ataxia v2.272	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Disease associations ?Spinocerebellar ataxia, autosomal recessive 25 Tags
Amber Amber List (moderate evidence)	ATM Hereditary Neuropathy v3.0	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Disease associations Ataxia-telangiectasia, MIM#208900 Childhood-onset progressive ataxia, conjunctival telangiectasia, sensory axonal neuropathy, chorea and dystonia, immunodeficiency and increased risk of malignancy, elevated α-fetoprotein Ataxia-telangiectasia syndrome Tags
Amber Amber List (moderate evidence)	ATP2A2 Rhabdomyolysis and Metabolic Myopathy v2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Congenital myopathy, MONDO:0019952, ATP2A2-related {Rhabdomyolysis, susceptibility to, 2}, MIM# 621236 Tags
Amber Amber List (moderate evidence)	ATP2B4 Hereditary Spastic Paraplegia v2.111	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Royal Melbourne Hospital Expert Review Amber Royal Melbourne Hospital Disease associations Pure and complicated hereditary spastic paraplegia Tags
Amber Amber List (moderate evidence)	ATP5F1A Genetic Epilepsy v2.60	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A MIM#620358 Combined oxidative phosphorylation deficiency 22 616045 Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228 Tags new gene name
Amber Amber List (moderate evidence)	ATP5F1B Dystonia and Chorea v1.13	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Literature Disease associations Dystonia 38, susceptibility to, MIM# 621502 Tags
Amber Amber List (moderate evidence)	ATP5F1B Mitochondrial disease v2.12	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Dystonia 38, susceptibility to, MIM# 621502 Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, MIM# 620085 Tags
Amber Amber List (moderate evidence)	ATP5F1D Mitochondrial disease v2.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex V (ATP synthase) deficiency, MIM# 618120 Tags new gene name
Amber Amber List (moderate evidence)	ATP5F1E Genetic Epilepsy v2.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053 Tags
Amber Amber List (moderate evidence)	ATP5ME Mitochondrial disease v2.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Literature Disease associations Mitochondrial disease (MONDO:0044970), ATP5ME-related Tags
Amber Amber List (moderate evidence)	ATP5MK Mitochondrial disease v2.12	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Disease associations Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6 MIM#618683 Tags new gene name
Amber Amber List (moderate evidence)	ATP7B Leukodystrophy v1.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Expert list Disease associations Wilson disease, 277900 Tags
Amber Amber List (moderate evidence)	ATP7B Neurodegeneration with brain iron accumulation v2.0	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Literature Disease associations Wilson disease, MIM# 277900 Tags
Amber Amber List (moderate evidence)	B4GALNT1 Hereditary Neuropathy v3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Disease associations Spastic paraplegia 26, autosomal recessive (MIM#609195 MONDO:0012213) Tags
Amber Amber List (moderate evidence)	B4GAT1 Genetic Epilepsy v2.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM#615287 Tags
Amber Amber List (moderate evidence)	BAG3 Hereditary Neuropathy v3.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Royal Melbourne Hospital Disease associations Myopathy, myofibrillar, 6 (MIM#612954 MONDO:0013061) Tags
Amber Amber List (moderate evidence)	BICD2 Hereditary Spastic Paraplegia v2.111	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Expert Review Amber Expert list Disease associations Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM#615290 Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM#618291 Tags
Amber Amber List (moderate evidence)	BICD2 Genetic Epilepsy v2.60	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations Neurodevelopmental disorder, BICD2-related (MONDO#0700092) Tags
Amber Amber List (moderate evidence)	BMP6 Metal Metabolism Disorders v1.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS Genomic Medicine Service Genomics England PanelApp Disease associations {Iron overload, susceptibility to} 620121 Tags
Amber Amber List (moderate evidence)	BORCS8 Hereditary Spastic Paraplegia v2.111	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, MONDO:0975837 Tags
Amber Amber List (moderate evidence)	BRCC3 Cerebral vascular malformations v2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Genomics England PanelApp Disease associations MoyaMoya Disease, syndromic, MONDO:0016820 Tags SV/CNV
Amber Amber List (moderate evidence)	CACNA2D1 Genetic Epilepsy v2.60	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Developmental and epileptic encephalopathy 110, MIM# 620149 Tags
Amber Amber List (moderate evidence)	CACNB4 Brain Channelopathies v2.0	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Expert Review Amber Victorian Clinical Genetics Services Disease associations Episodic ataxia, type 5, MIM#613855 Tags
Amber Amber List (moderate evidence)	CACNB4 Genetic Epilepsy v2.60	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Disease associations {Epilepsy, idiopathic generalized, susceptibility to, 9} 607682 {Epilepsy, juvenile myoclonic, susceptibility to, 6} 607682 Tags
Amber Amber List (moderate evidence)	CAMK2D Genetic Epilepsy v2.60	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder (MONDO#0700092), CAMK2D-related Tags
Amber Amber List (moderate evidence)	CCDC88C Ataxia v2.272	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services GeneReviews Royal Melbourne Hospital Expert Review Amber Expert Review Amber Victorian Clinical Genetics Services Disease associations autosomal dominant spinocerebellar ataxia ?Spinocerebellar ataxia 40, 616053 Tags
Amber Amber List (moderate evidence)	CCDC88C Hereditary Spastic Paraplegia v2.111	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Early-onset pure hereditary spastic paraplegia Tags
Amber Amber List (moderate evidence)	CCNF Motor Neurone Disease v2.29	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Disease associations Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, MIM# 619141 Tags
Amber Amber List (moderate evidence)	CCNF Early-onset Dementia v2.14	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Disease associations Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, MIM# 619141 Tags
Amber Amber List (moderate evidence)	CCT5 Hereditary Neuropathy v3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Disease associations Neuropathy, hereditary sensory, with spastic paraplegia, 256840 HMSN Tags
Amber Amber List (moderate evidence)	CCT5 Pain syndromes v1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Disease associations Neuropathy, hereditary sensory, with spastic paraplegia, 256840 HSAN with spastic paraplegia Tags
Amber Amber List (moderate evidence)	CCT6A Genetic Epilepsy v2.60	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations neurodevelopmental disorder MONDO:0700092, CCT6A-related Tags
Amber Amber List (moderate evidence)	CD320 Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Methylmalonic aciduria, transient, due to transcobalamin receptor defect MIM#613646 Disorders of cobalamin absorption, transport and metabolism Tags
Amber Amber List (moderate evidence)	CDC42BPB Genetic Epilepsy v2.60	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Chilton-Okur-Chung neurodevelopmental syndrome, MIM# 619841 Tags
Amber Amber List (moderate evidence)	CDO1 Hereditary Spastic Paraplegia v2.111	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder, MONDO:0700092 Tags
Amber Amber List (moderate evidence)	CEP89 Mitochondrial disease v2.12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex IV deficiency Tags
Amber Amber List (moderate evidence)	CFAP276 Hereditary Neuropathy v3.0	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Literature Literature Literature Disease associations hereditary peripheral neuropathy, MONDO:0020127, CFAP276-related Tags
Amber Amber List (moderate evidence)	CHD4 Cerebral vascular malformations v2.0	4 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Expert Review Green Victorian Clinical Genetics Services Disease associations Moya Moya Sifrim-Hitz-Weiss syndrome, MIM# 617159 Tags
Amber Amber List (moderate evidence)	CHD8 Dystonia and Chorea v1.13	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder, CHD8-related, MIM#615032 Dystonia Tags
Amber Amber List (moderate evidence)	CHKB Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Expert Review Green Victorian Clinical Genetics Services Disease associations megaconial type congenital muscular dystrophy MONDO:0011246 CHKB-Related Muscular Dystrophy Tags
Amber Amber List (moderate evidence)	CHKB Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Victorian Clinical Genetics Services Disease associations megaconial type congenital muscular dystrophy MONDO:0011246 recurrent rhabdomyolysis CHKB-Related Muscular Dystrophy Tags
Amber Amber List (moderate evidence)	CHMP3 Hereditary Spastic Paraplegia v2.111	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Hereditary spastic paraplegia (MONDO:0019064), CHMP3-related Tags
Amber Amber List (moderate evidence)	CHP1 Ataxia v2.272	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Spastic ataxia 9, autosomal recessive, OMIM #618438 Tags
Amber Amber List (moderate evidence)	CIZ1 Dystonia and Chorea v1.13	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Royal Melbourne Hospital Expert Review Amber Royal Melbourne Hospital Disease associations Dystonia 23, 614860 Tags
Amber Amber List (moderate evidence)	CLCC1 Motor Neurone Disease v2.29	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations amyotrophic lateral sclerosis MONDO:0004976 Tags
Amber Amber List (moderate evidence)	CLCN7 Lysosomal Storage Disorder v2.2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541 Tags
Amber Amber List (moderate evidence)	CLDN11 Hereditary Spastic Paraplegia v2.111	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations leukodystrophy, hypomyelinating, 22, MONDO:0025701 Tags
Amber Amber List (moderate evidence)	CLP1 Ataxia v2.272	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations pontocerebellar hypoplasia type 10, MONDO:0014349 Tags
Amber Amber List (moderate evidence)	CLTCL1 Pain syndromes v1.0	1 review	Unknown	Sources Expert Review Amber Literaure Review Genomics England PanelApp Disease associations Congenital insensitivity to pain Tags
Amber Amber List (moderate evidence)	CMPK2 Mitochondrial disease v2.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations bilateral striopallidodentate calcinosis, MONDO:0008947, CMPK2-related Tags
Amber Amber List (moderate evidence)	CMPK2 Brain Calcification v3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations bilateral striopallidodentate calcinosis, MONDO:0008947, CMPK2-related Tags
Amber Amber List (moderate evidence)	CNOT3 Cerebral vascular malformations v2.0	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Expert Review Green Victorian Clinical Genetics Services Disease associations Moya Moya Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, MIM# 618672 Tags
Amber Amber List (moderate evidence)	COASY Early-onset Parkinson disease v3.33	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Neurodegeneration with brain iron accumulation 6, MIM# 615643 Tags
Amber Amber List (moderate evidence)	COG3 Genetic Epilepsy v2.60	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations Congenital disorder of glycosylation, type IIbb, MIM# 620546 Tags
Amber Amber List (moderate evidence)	COG3 Congenital Disorders of Glycosylation v2.2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Congenital disorder of glycosylation, type IIbb, MIM# 620546 Tags
Amber Amber List (moderate evidence)	COG4 Genetic Epilepsy v2.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Congenital disorder of glycosylation, type IIj, MIM#613489 Tags
Amber Amber List (moderate evidence)	COG6 Genetic Epilepsy v2.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Coenzyme Q10 deficiency, primary, 6, MIM#614650 Tags
Amber Amber List (moderate evidence)	COG8 Genetic Epilepsy v2.60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Congenital disorder of glycosylation, type IIh, 611182 Tags
Amber Amber List (moderate evidence)	COL4A2 Leukodystrophy v1.12	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Disease associations Brain small vessel disease 2B, autosomal recessive, MONDO:0980747 Tags
Amber Amber List (moderate evidence)	COL4A2 Early-onset Dementia v2.14	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Familial porencephaly MONDO:0020496 Tags
Amber Amber List (moderate evidence)	COL6A3 Dystonia and Chorea v1.13	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Royal Melbourne Hospital Expert Review Amber Victorian Clinical Genetics Services Disease associations Dystonia 27, MIM#616411 Tags
Amber Amber List (moderate evidence)	COLGALT1 Genetic Epilepsy v2.60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Expert Review Green Other Disease associations Brain small vessel disease 3 MIM#618360 Tags
Amber Amber List (moderate evidence)	COQ2 Early-onset Parkinson disease v3.33	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations multiple system atrophy, MONDO:0007803 Tags
Amber Amber List (moderate evidence)	COQ6 Genetic Epilepsy v2.60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Coenzyme Q10 deficiency, primary, 6, MIM#614650 Tags
Amber Amber List (moderate evidence)	COX10 Genetic Epilepsy v2.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Mitochondrial complex IV deficiency, MIM#220110 Tags
Amber Amber List (moderate evidence)	COX10 Hereditary Neuropathy v3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Disease associations Mitochondrial complex IV deficiency, nuclear type 3 (MIM#619046) Tags
Amber Amber List (moderate evidence)	COX14 Mitochondrial disease v2.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex IV deficiency, nuclear type 10, MIM# 619053 Tags
Amber Amber List (moderate evidence)	COX15 Genetic Epilepsy v2.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 MIM#615119 and Leigh syndrome #256000 Tags
Amber Amber List (moderate evidence)	COX16 Mitochondrial disease v2.12	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Mitochondrial complex IV deficiency, nuclear type 22, MIM# 619355 Hypertrophic cardiomyopathy encephalopathy severe fatal lactic acidosis Tags
Amber Amber List (moderate evidence)	COX5A Mitochondrial disease v2.12	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Disease associations Mitochondrial complex IV deficiency, nuclear type 20, MIM#619064 pulmonary arterial hypertension lactic acidemia failure to thrive isolated complex IV deficiency Tags
Amber Amber List (moderate evidence)	CP Genetic Epilepsy v2.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations Hemosiderosis, systemic, due to aceruloplasminemia MIM#604290 Tags
Amber Amber List (moderate evidence)	CPT1C Hereditary Spastic Paraplegia v2.111	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Royal Melbourne Hospital Royal Melbourne Hospital Disease associations Spastic paraplegia 73, autosomal dominant, MIM#616282 MONDO:0014568 Tags disputed
Amber Amber List (moderate evidence)	CRAT Mitochondrial disease v2.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Neurodegeneration with brain iron accumulation 8, MIM# 617917 Leigh syndrome Tags
Amber Amber List (moderate evidence)	CRYAB Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Amber Expert list Expert Review Disease associations Myopathy, myofibrillar, 2, MIM# 608810 Tags
Amber Amber List (moderate evidence)	CSNK1A1 Genetic Epilepsy v2.60	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Infantile spasms, MONDO:0018097, CSNK1A1-related Tags
Amber Amber List (moderate evidence)	CSNK1E_FRA22A_CGG STR Genetic Epilepsy v2.60	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Literature Disease associations CSNK1E-related progressive myoclonic epilepsy and developmental and epileptic encephalopathy Tags
Amber Amber List (moderate evidence)	CTH Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Disease associations Cystathioninuria MIM#219500 Tags
Amber Amber List (moderate evidence)	CUL3 Genetic Epilepsy v2.60	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder with or without autism or seizures, MIM# 619239 Global developmental delay Intellectual disability Seizures Abnormality of cardiovascular system morphology Abnormality of the palate Tags
Amber Amber List (moderate evidence)	CYLD Early-onset Dementia v2.14	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Frontotemporal dementia and/or amytrophic lateral sclerosis 8, MIM# 619132 Tags
Amber Amber List (moderate evidence)	CYLD Motor Neurone Disease v2.29	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Victorian Clinical Genetics Services Disease associations Frontotemporal dementia and/or amytrophic lateral sclerosis 8, MIM# 619132 Tags
Amber Amber List (moderate evidence)	CYP2U1 Leukodystrophy v1.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations Spastic paraplegia 56, autosomal recessive 615030 Tags
Amber Amber List (moderate evidence)	DALRD3 Genetic Epilepsy v2.60	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Developmental and epileptic encephalopathy, 86 MONDO:0030054 Tags
Amber Amber List (moderate evidence)	DARS2 Genetic Epilepsy v2.60	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105 Tags
Amber Amber List (moderate evidence)	DCAF8 Hereditary Neuropathy v3.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Royal Melbourne Hospital Disease associations ?Giant axonal neuropathy 2, autosomal dominant, 610100 HMSN Tags
Amber Amber List (moderate evidence)	DCXR Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Disease associations Pentosuria MIM#260800 Disorders of pentose metabolism Tags
Amber Amber List (moderate evidence)	DENR Genetic Epilepsy v2.60	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, DENR-related Tags
Amber Amber List (moderate evidence)	DGAT2 Hereditary Neuropathy v3.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Royal Melbourne Hospital Expert Review Expert Review Royal Melbourne Hospital Disease associations Charcot-Marie-Tooth disease, MONDO:0015626, DGAT2-related Tags
Amber Amber List (moderate evidence)	DHDDS Early-onset Parkinson disease v3.33	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Disease associations Developmental delay and seizures with or without movement abnormalities, MIM# 617836 Myoclonic Epilepsy Parkinsonism Ataxia Intellectual disability Tags
Amber Amber List (moderate evidence)	DHFR Genetic Epilepsy v2.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Disease associations Megaloblastic anemia due to dihydrofolate reductase deficiency, MIM# 613839 Tags
Amber Amber List (moderate evidence)	DHRS9 Genetic Epilepsy v2.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Genetic epilepsy, MONDO:0100575, DHRS9 Tags
Amber Amber List (moderate evidence)	DHTKD1 Hereditary Neuropathy v3.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Literature Disease associations Charcot-Marie-Tooth disease axonal type 2Q MONDO:0014012 Tags
Amber Amber List (moderate evidence)	DNAJA3 Hereditary Neuropathy v3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Literature Literature Literature Disease associations Mitochondrial disease, MONDO:0044970, DNAJA3-related Tags
Amber Amber List (moderate evidence)	DNAJA3 Mitochondrial disease v2.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Mitochondrial disease, MONDO:0044970, DNAJA3-related Tags
Amber Amber List (moderate evidence)	DNAJC6 Genetic Epilepsy v2.60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Disease associations Parkinson disease 19a, juvenile-onset - MIM#615528 Parkinson disease 19b, early-onset - MIM#615528 Tags
Amber Amber List (moderate evidence)	DNMT3B Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Expert Review Green Victorian Clinical Genetics Services Disease associations Facioscapulohumeral muscular dystrophy MONDO:0001347 Tags
Amber Amber List (moderate evidence)	DPM2 Genetic Epilepsy v2.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Congenital disorder of glycosylation, type Iu, MIM#615042 Tags
Amber Amber List (moderate evidence)	DROSHA Genetic Epilepsy v2.60	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder (MONDO#0700092), DROSHA-related Tags non-coding gene
Amber Amber List (moderate evidence)	DSTYK Hereditary Spastic Paraplegia v2.111	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Disease associations Spastic paraplegia 23, MIM#270750 Tags founder SV/CNV
Amber Amber List (moderate evidence)	DTYMK Genetic Epilepsy v2.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Disease associations Neurodegeneration, childhood-onset, with progressive microcephaly (MIM# 619847) Tags
Amber Amber List (moderate evidence)	EBP Peroxisomal Disorders v1.8	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Expert Review Disease associations Chondrodysplasia punctata, X-linked dominant (MIM#302960) Tags
Amber Amber List (moderate evidence)	EMILIN1 Hereditary Neuropathy v3.0	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Neuronopathy, distal hereditary motor, type X, MIM# 620080 Peripheral neuropathy aortic aneurysm Tags
Amber Amber List (moderate evidence)	EP400_SCA_CAG STR Ataxia v2.272	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Amber Expert Review Amber Literature Disease associations Spinocerebellar ataxia, EP400-related MONDO:0000437 Tags preprint
Amber Amber List (moderate evidence)	EPM2A Early-onset Parkinson disease v3.33	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Epilepsy, progressive myoclonic 2A (Lafora), MIM# 254780 Progressive Myoclonic Epilepsy Parkinsonism Tags
Amber Amber List (moderate evidence)	ERAL1 Mitochondrial disease v2.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations Perrault syndrome 6, MIM# 617565 Tags
Amber Amber List (moderate evidence)	ERCC2 Leukodystrophy v1.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations Trichothiodystrophy 1, photosensitive 601675 Tags
Amber Amber List (moderate evidence)	ETFB Rhabdomyolysis and Metabolic Myopathy v2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Disease associations Glutaric acidemia IIB 231680 Tags
Amber Amber List (moderate evidence)	ETFDH Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Expert list Disease associations Glutaric acidemia IIC 231680 Tags
Amber Amber List (moderate evidence)	EXOSC3 Hereditary Neuropathy v3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Disease associations Pontocerebellar hypoplasia, type 1b dHMN/dSMA Tags
Amber Amber List (moderate evidence)	EXOSC3 Hereditary Spastic Paraplegia v2.111	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Disease associations Pontocerebellar hypoplasia, type 1b Complicated hereditary spastic paraplegia Tags
Amber Amber List (moderate evidence)	EXOSC3 Mitochondrial disease v2.12	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Expert list Disease associations Pontocerebellar hypoplasia, type 1B 614678 Intellectual disability Microcephaly Hypotonia Mitochondrial dysfunction Tags
Amber Amber List (moderate evidence)	FAM50A Genetic Epilepsy v2.60	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Expert Review Amber Literature Disease associations Mental retardation syndrome, X-linked, Armfield type (MIM #300261) Tags
Amber Amber List (moderate evidence)	FAR1 Genetic Epilepsy v2.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154 Tags
Amber Amber List (moderate evidence)	FAT3 Hereditary Neuropathy v3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Literature Disease associations Peripheral neuropathy MONDO:0005244, FAT3-related Tags
Amber Amber List (moderate evidence)	FBP2 Leukodystrophy v1.12	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Disease associations Leukodystrophy, childhood-onset, remitting, MIM# 619864 Tags
Amber Amber List (moderate evidence)	FBRSL1 Genetic Epilepsy v2.60	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Disease associations Camptodactyly, impaired intellectual development, and facial dysmorphism syndrome, MIM# 621722 Tags
Amber Amber List (moderate evidence)	FBXL4 Dystonia and Chorea v1.13	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471 Tags
Amber Amber List (moderate evidence)	FBXO38 Hereditary Neuropathy v3.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Royal Melbourne Hospital Disease associations Neuronopathy, distal hereditary motor, type IID, MIM#615575 Tags
Amber Amber List (moderate evidence)	FDX2 Leukodystrophy v1.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MIM#251900 Tags
Amber Amber List (moderate evidence)	FDX2 Hereditary Neuropathy v3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Disease associations Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy (MIM#251900) Tags
Amber Amber List (moderate evidence)	FECH Metal Metabolism Disorders v1.1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS Genomic Medicine Service Expert Review Amber Genomics England PanelApp Disease associations EPP1 177000 PROTOPORPHYRIA, ERYTHROPOIETIC, 1 Tags
Amber Amber List (moderate evidence)	FIG4 Motor Neurone Disease v2.29	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Amyotrophic Lateral Sclerosis Type 11 (MONDO: 0012945 MIM#612577) Tags
Amber Amber List (moderate evidence)	FKRP Genetic Epilepsy v2.60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, MIM#613153 Tags
Amber Amber List (moderate evidence)	FOXJ3 Genetic Epilepsy v2.60	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Literature Disease associations Focal epilepsy, MONDO:0005384, FOXJ3-related Tags
Amber Amber List (moderate evidence)	FOXM1 Cerebral vascular malformations v2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Literature Disease associations Moyamoya disease MONDO:0016820 Tags
Amber Amber List (moderate evidence)	FRA10AC1 Genetic Epilepsy v2.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Disease associations Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113 Tags
Amber Amber List (moderate evidence)	FXYD2 Metal Metabolism Disorders v1.1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Disease associations Renal hypomagnesemia 2 MONDO:0007937, Disorders of magnesium metabolism Tags
Amber Amber List (moderate evidence)	GALC Hereditary Neuropathy v3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Disease associations Krabbe Disease MIM#245200 Tags
Amber Amber List (moderate evidence)	GATAD2B Genetic Epilepsy v2.60	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Review Disease associations Mental retardation, autosomal dominant 18, OMIM # 615074 Tags
Amber Amber List (moderate evidence)	GATB Mitochondrial disease v2.12	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Disease associations inborn mitochondrial metabolism disorder MONDO:0004069 Tags
Amber Amber List (moderate evidence)	GATM Genetic Epilepsy v2.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Disease associations Cerebral creatine deficiency syndrome 3, MIM# 612718 Tags
Amber Amber List (moderate evidence)	GBA1 Early-onset Dementia v2.14	2 reviews	Other	Sources Expert Review Amber Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations {Lewy body dementia, susceptibility to} (MIM# 127750) Tags
Amber Amber List (moderate evidence)	GCDH Leukodystrophy v1.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Amber Expert Review Amber Disease associations Glutaric aciduria, type I, MIM#231670 Tags
Amber Amber List (moderate evidence)	GFPT1 Leukodystrophy v1.12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Expert Review Green Literature Disease associations Myasthenia, congenital, 12, with tubular aggregates 610542 Leukoencephalopathy Tags
Amber Amber List (moderate evidence)	GGT1 Miscellaneous Metabolic Disorders v2.3	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Glutathioninuria MIM#231950 Disorders of the gamma-glutamyl cycle Tags SV/CNV
Amber Amber List (moderate evidence)	GJC2 Hereditary Spastic Paraplegia v2.111	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations Spastic paraplegia 44, autosomal recessive, MIM# 613206 Tags
Amber Amber List (moderate evidence)	GLA Brain Calcification v3.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Expert list Disease associations Fabry disease, MIM# 301500 Tags
Amber Amber List (moderate evidence)	GLT8D1 Motor Neurone Disease v2.29	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Disease associations Amyotrophic lateral sclerosis Tags
Amber Amber List (moderate evidence)	GMPPA Genetic Epilepsy v2.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510) Tags
Amber Amber List (moderate evidence)	GNE Hereditary Neuropathy v3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations GNE-related motor neuropathy MONDO:0100546 Tags
Amber Amber List (moderate evidence)	GPSM2 Genetic Epilepsy v2.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations Chudley-McCullough syndrome, MIM# 604213 Tags
Amber Amber List (moderate evidence)	GSK3B Genetic Epilepsy v2.60	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, GSK3B-related Tags
Amber Amber List (moderate evidence)	GTPBP2 Neurodegeneration with brain iron accumulation v2.0	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Jaberi-Elahi syndrome, MIM# 617988 Tags
Amber Amber List (moderate evidence)	H6PD Early-onset Parkinson disease v3.33	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Parkinson disease MONDO:0005180 Tags
Amber Amber List (moderate evidence)	HACE1 Dystonia and Chorea v1.13	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations Spastic paraplegia and psychomotor retardation with or without seizures MIM#616756 Tags
Amber Amber List (moderate evidence)	HADHB Hereditary Neuropathy v3.0	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Disease associations Mitochondrial Trifunctional Protein Deficiency 2 with Myopathy and Neuropathy MIM#320300 Tags treatable
Amber Amber List (moderate evidence)	HAL Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Histidinemia MIM#235800 Disorders of histidine, tryptophan or lysine metabolism Tags
Amber Amber List (moderate evidence)	HARS1 Ataxia v2.272	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations multisystem ataxic syndrome Tags
Amber Amber List (moderate evidence)	HBB Cerebral vascular malformations v2.0	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Genomics England PanelApp Expert Review Amber Disease associations Sickle cell anemia 603903 Tags
Amber Amber List (moderate evidence)	HCCS Genetic Epilepsy v2.60	1 review	Other	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Linear skin defects with multiple congenital anomalies 1, 309801 Tags
Amber Amber List (moderate evidence)	HDAC8 Genetic Epilepsy v2.60	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Expert list Disease associations Cornelia de Lange syndrome 5, MIM# 300882 Tags
Amber Amber List (moderate evidence)	HEATR5B Genetic Epilepsy v2.60	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Literature Disease associations Pontocerebellar hypoplasia MONDO:0020135, HEATR5B-related Tags
Amber Amber List (moderate evidence)	HNRNPA1 Early-onset Dementia v2.14	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Disease associations Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3 MIM#615424 Amyotrophic lateral sclerosis 20 MIM#615426 Tags
Amber Amber List (moderate evidence)	HNRNPA2B1 Early-onset Dementia v2.14	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 MIM#615422 Tags
Amber Amber List (moderate evidence)	HNRNPA2B1 Motor Neurone Disease v2.29	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber ClinGen Disease associations amyotrophic lateral sclerosis MONDO:0004976 Tags
Amber Amber List (moderate evidence)	HNRNPK Genetic Epilepsy v2.60	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Disease associations Au-Kline syndrome MIM#616580 Tags
Amber Amber List (moderate evidence)	HOXA1 Genetic Epilepsy v2.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Bosley-Salih-Alorainy syndrome, MIM#601536 and Athabaskan brainstem dysgenesis syndrome, MIM#601536 Tags
Amber Amber List (moderate evidence)	HPRT1 Genetic Epilepsy v2.60	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Lesch-Nyhan syndrome Tags
Amber Amber List (moderate evidence)	HSPB1 Motor Neurone Disease v2.29	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations amyotrophic lateral sclerosis MONDO:0004976 Tags
Amber Amber List (moderate evidence)	HYAL1 Lysosomal Storage Disorder v2.2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Disease associations Mucopolysaccharidosis type IX, MIM# 601492 MONDO:0011093 Tags
Amber Amber List (moderate evidence)	HYCC1 Hereditary Neuropathy v3.0	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Disease associations HMSN Congenital cataracts, global developmental delay from 1 year, diffuse cerebral hypomyelination on MRI, neuropathy with SNCV Leukodystrophy, hypomyelinating, 5, 610532 Tags
Amber Amber List (moderate evidence)	IDH3B Mitochondrial disease v2.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Retinitis pigmentosa 46, MIM# 612572 Tags
Amber Amber List (moderate evidence)	IRF2BPL Hereditary Spastic Paraplegia v2.111	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Expert list Disease associations Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 618088 Tags
Amber Amber List (moderate evidence)	IRF8 Brain Calcification v3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, MIM# 226990 Tags
Amber Amber List (moderate evidence)	ITM2B Leukodystrophy v1.12	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Other Expert Review Amber Expert Review Amber Other Disease associations ABri amyloidosis MONDO:0008306 Tags
Amber Amber List (moderate evidence)	JAKMIP1 Genetic Epilepsy v2.60	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder (MONDO#0700092), JAKMIP1-related Tags
Amber Amber List (moderate evidence)	JMJD1C Genetic Epilepsy v2.60	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Disease associations Intellectual disability (MONDO#0001071), JMJD1C-related Tags
Amber Amber List (moderate evidence)	KARS1 Hereditary Neuropathy v3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Disease associations Charcot-Marie-Tooth disease, recessive intermediate, B (MIM#613641 MONDO:0013338) Tags
Amber Amber List (moderate evidence)	KCNB2 Genetic Epilepsy v2.60	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations neurodevelopmental disorder MONDO:0700092, KCNB2-related Tags
Amber Amber List (moderate evidence)	KCNH7 Genetic Epilepsy v2.60	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Epilepsy, MONDO:0005027, KCNH7-related Tags
Amber Amber List (moderate evidence)	KCNJ3 Genetic Epilepsy v2.60	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Disease associations Epilepsy (MONDO#0005027), KCNJ3-related Tags
Amber Amber List (moderate evidence)	KCNQ2 Ataxia v2.272	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Royal Melbourne Hospital Disease associations Early infantile encephalopathy 7, 613720 Myokymia, 121200 Tags
Amber Amber List (moderate evidence)	KCNQ2 Dystonia and Chorea v1.13	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Disease associations Epileptic encephalopathy, early infantile, 7 MIM#613720 Tags
Amber Amber List (moderate evidence)	KGD4 Dystonia and Chorea v1.13	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Leigh syndrome - MONDO:0009723, MRPS36/KGD4-related Tags new gene name
Amber Amber List (moderate evidence)	KGD4 Mitochondrial disease v2.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Leigh syndrome - MONDO:0009723, MRPS36/KGD4-related Tags new gene name
Amber Amber List (moderate evidence)	KHK Miscellaneous Metabolic Disorders v2.3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Fructosuria MIM#229800 Disorders of fructose metabolism Tags
Amber Amber List (moderate evidence)	KIF1A Motor Neurone Disease v2.29	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations amyotrophic lateral sclerosis, MONDO:0004976 Tags
Amber Amber List (moderate evidence)	KIF1C Dystonia and Chorea v1.13	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations Spastic ataxia 2, autosomal recessive, MIM# 611302 Tags
Amber Amber List (moderate evidence)	KIF4A Genetic Epilepsy v2.60	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Expert Review Disease associations Intellectual developmental disorder, X-linked 100 MIM#300923 Tags
Amber Amber List (moderate evidence)	KIF5A Early-onset Parkinson disease v3.33	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Spastic paraplegia 10, autosomal dominant MIM#604187 Tags
Amber Amber List (moderate evidence)	KIF5A Early-onset Dementia v2.14	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Disease associations Amyotrophic lateral sclerosis, susceptibility to, 25 MONDO:0060670 Tags
Amber Amber List (moderate evidence)	KLHL9 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations distal myopathy MONDO:0018949 Tags
Amber Amber List (moderate evidence)	LAMP2 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert Review Amber Expert Review Victorian Clinical Genetics Services Disease associations Danon disease (MIM#300257) Tags
Amber Amber List (moderate evidence)	LARGE1 Genetic Epilepsy v2.60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM#613154 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 MIM#608840 Tags
Amber Amber List (moderate evidence)	LGALSL Motor Neurone Disease v2.29	1 review	Unknown	Sources Expert Review Amber ClinGen Disease associations amyotrophic lateral sclerosis MONDO:0004976 Tags
Amber Amber List (moderate evidence)	LMNA Hereditary Neuropathy v3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Disease associations Charcot-Marie-Tooth disease, type 2B1 , MIM#605588 Tags
Amber Amber List (moderate evidence)	LMNB1 Genetic Epilepsy v2.60	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Disease associations Global developmental delay Intellectual disability Microcephaly Short stature Seizures Abnormality of the corpus callosum Cortical gyral simplification Feeding difficulties Scoliosis Tags
Amber Amber List (moderate evidence)	LMNB2 Genetic Epilepsy v2.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations ?Epilepsy, progressive myoclonic, 9 MIM#616540 Tags
Amber Amber List (moderate evidence)	LPIN1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Expert Review Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations Myoglobinuria, acute recurrent, autosomal recessive (MIM#268200) Tags
Amber Amber List (moderate evidence)	LRIF1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Facioscapulohumeral muscular dystrophy MONDO:0001347 Tags
Amber Amber List (moderate evidence)	LSM7 Leukodystrophy v1.12	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Leukodystrophy and cerebellar atrophy, MIM# 621191 Tags
Amber Amber List (moderate evidence)	LYRM4 Mitochondrial disease v2.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Combined oxidative phosphorylation deficiency 19, MIM# 615595 Tags
Amber Amber List (moderate evidence)	LYST Hereditary Spastic Paraplegia v2.111	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Amber Royal Melbourne Hospital Disease associations spastic paraplegia Spastic paraplegia Chediak-Higashi syndrome, 214500 Tags
Amber Amber List (moderate evidence)	LYST Genetic Epilepsy v2.60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Chediak-Higashi syndrome, MIM#214500 Tags
Amber Amber List (moderate evidence)	MAGED1 Genetic Epilepsy v2.60	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, MAGED1-related Tags
Amber Amber List (moderate evidence)	MAL Leukodystrophy v1.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Leukodystrophy, hypomyelinating, 28, MIM# 620978 Tags
Amber Amber List (moderate evidence)	MAMDC2 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Muscular Dystrophy MONDO:0020121, MAMDC2-related Tags
Amber Amber List (moderate evidence)	MAN2A2 Congenital Disorders of Glycosylation v2.2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Congenital disorder of glycosylation, MONDO:0015286, MAN2A2-reated Tags
Amber Amber List (moderate evidence)	MANBA Genetic Epilepsy v2.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Mannosidosis, beta, MIM#248510 Tags
Amber Amber List (moderate evidence)	MAPK8IP3 Genetic Epilepsy v2.60	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Expert Review Green Literature Disease associations Neurodevelopmental disorder with or without variable brain abnormalities MIM#618443 Tags
Amber Amber List (moderate evidence)	MAPK8IP3 Ataxia v2.272	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Royal Melbourne Hospital Disease associations Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431 Tags
Amber Amber List (moderate evidence)	MAPT Dystonia and Chorea v1.13	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations Dementia, frontotemporal, with or without parkinsonism MIM#600274 Tags
Amber Amber List (moderate evidence)	MARS1 Hereditary Spastic Paraplegia v2.111	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Disease associations Spastic paraplegia 70, autosomal recessive, MIM# 620323 Tags
Amber Amber List (moderate evidence)	MARS2 Mitochondrial disease v2.12	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Combined oxidative phosphorylation deficiency 25, OMIM #616430 Spastic ataxia 3, autosomal recessive, OMIM #611390 Tags
Amber Amber List (moderate evidence)	MATR3 Early-onset Dementia v2.14	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Amyotrophic lateral sclerosis 21 MIM#606070 frontotemporal dementia multisystem proteinopathy Tags
Amber Amber List (moderate evidence)	MDH1 Genetic Epilepsy v2.60	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations epilepsy microcephaly intellectual disability Epileptic encephalopathy, early infantile, 88, MIM#618959 Tags
Amber Amber List (moderate evidence)	MFF Hereditary Neuropathy v3.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Disease associations Encephalopathy due to defective mitochondrial and peroxisomal fission 2 MIM# 617086 Tags
Amber Amber List (moderate evidence)	MICAL1 Genetic Epilepsy v2.60	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Disease associations Autosomal dominant epilepsy with auditory features (ADEAF) Tags
Amber Amber List (moderate evidence)	MKKS Ataxia v2.272	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Expert list Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 6, 605231 Tags
Amber Amber List (moderate evidence)	MME Ataxia v2.272	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services GeneReviews Royal Melbourne Hospital Royal Melbourne Hospital GeneReviews Disease associations Neurodevelopmental disorder, MONDO:0700092 spinocerebellar ataxia 43, MONDO:0014867 Tags
Amber Amber List (moderate evidence)	MOCS1 Brain Calcification v3.0	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations Molybdenum cofactor deficiency A, MIM# 252150 Tags
Amber Amber List (moderate evidence)	MPC2 Mitochondrial disease v2.12	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Expert Review Amber Literature Disease associations mitochondrial pyruvate carrier deficiency, MONDO:0013877, MPC2-related Tags
Amber Amber List (moderate evidence)	MRPL50 Mitochondrial disease v2.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Mitochondrial disease, MONDO: 004470, MRPL50-related Tags
Amber Amber List (moderate evidence)	MRPS14 Mitochondrial disease v2.12	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations Combined oxidative phosphorylation deficiency 38, MIM# 618378 Tags
Amber Amber List (moderate evidence)	MRPS16 Mitochondrial disease v2.12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Australian Genomcis Health Alliance Leukodystrophy Flagship Victorian Clinical Genetics Services Disease associations Combined oxidative phosphorylation deficiency 2 OMIM #610498 Tags
Amber Amber List (moderate evidence)	MRPS7 Mitochondrial disease v2.12	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Combined oxidative phosphorylation deficiency 34, MIM# 617872 Tags
Amber Amber List (moderate evidence)	MT-ATP8 Genetic Epilepsy v2.60	1 review	MITOCHONDRIAL	Sources Expert Review Amber Expert list Expert list Disease associations Mitochondrial disease MONDO:0044970, MT-ATP8 related Tags mtDNA
Amber Amber List (moderate evidence)	MT-ATP8 Mitochondrial disease v2.12	2 reviews	MITOCHONDRIAL	Sources Expert Review Amber Expert list Disease associations Mitochondrial disease MONDO:0044970, MT-ATP8 related Tags mtDNA
Amber Amber List (moderate evidence)	MT-ATP8 Hereditary Neuropathy v3.0	1 review	MITOCHONDRIAL	Sources Expert Review Amber Expert list Expert list Disease associations Mitochondrial disease MONDO:0044970, MT-ATP8 related Tags mtDNA
Amber Amber List (moderate evidence)	MT-ND4L Mitochondrial disease v2.12	1 review	MITOCHONDRIAL	Sources Expert Review Amber Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-ND4L-related Tags mtDNA
Amber Amber List (moderate evidence)	MT-TC Ataxia v2.272	1 review	MITOCHONDRIAL	Sources Expert Review Amber Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TC-related Tags mtDNA
Amber Amber List (moderate evidence)	MT-TC Rhabdomyolysis and Metabolic Myopathy v2.0	1 review	MITOCHONDRIAL	Sources Expert Review Amber Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TC-related Tags mtDNA
Amber Amber List (moderate evidence)	MT-TC Dystonia and Chorea v1.13	1 review	MITOCHONDRIAL	Sources Expert Review Amber Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TC-related Tags mtDNA
Amber Amber List (moderate evidence)	MT-TC Mitochondrial disease v2.12	1 review	MITOCHONDRIAL	Sources Expert Review Amber Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TC-related Tags mtDNA
Amber Amber List (moderate evidence)	MT-TC Genetic Epilepsy v2.60	1 review	MITOCHONDRIAL	Sources Expert Review Amber Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TC-related Tags mtDNA
Amber Amber List (moderate evidence)	MT-TC Hereditary Neuropathy v3.0	1 review	MITOCHONDRIAL	Sources Expert Review Amber Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TC-related Tags mtDNA
Amber Amber List (moderate evidence)	MT-TQ Rhabdomyolysis and Metabolic Myopathy v2.0	1 review	MITOCHONDRIAL	Sources Expert Review Amber Expert list Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TQ-related Tags mtDNA
Amber Amber List (moderate evidence)	MT-TQ Mitochondrial disease v2.12	1 review	MITOCHONDRIAL	Sources Expert Review Amber Expert list Disease associations Mitochondrial disease (MONDO:0044970), MT-TQ-related Tags mtDNA
Amber Amber List (moderate evidence)	MTERF3 Mitochondrial disease v2.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Mitochondrial disease (MONDO:0044970), MTERF3-related Tags
Amber Amber List (moderate evidence)	MTNAP1 Ataxia v2.272	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Literature Disease associations Mitochondrial disease, MONDO:0044970 Tags new gene name
Amber Amber List (moderate evidence)	MTNAP1 Genetic Epilepsy v2.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Literature Disease associations Mitochondrial disease, MONDO:0044970 Tags new gene name
Amber Amber List (moderate evidence)	MTNAP1 Mitochondrial disease v2.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Literature Disease associations Mitochondrial disease, MONDO:0044970 Tags new gene name
Amber Amber List (moderate evidence)	MTNAP1 Hereditary Spastic Paraplegia v2.111	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder, MONDO:0700092 Tags
Amber Amber List (moderate evidence)	MTPAP Ataxia v2.272	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations ?Ataxia, spastic, 4, Autosomal recessive spastic ataxia 4, 613672 Tags
Amber Amber List (moderate evidence)	MYH1 Rhabdomyolysis and Metabolic Myopathy v2.0	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Literature Disease associations rhabdomyolysis, susceptibility to MONDO:0979250, MYH1-related Tags
Amber Amber List (moderate evidence)	MYO9B Hereditary Neuropathy v3.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Literature Disease associations Charcot-Marie-Tooth disease type 2 (MONDO:0018993), MYO9B-related Tags
Amber Amber List (moderate evidence)	NAGA Genetic Epilepsy v2.60	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Schindler disease, type I and type II 609241 Tags
Amber Amber List (moderate evidence)	NAGLU Hereditary Neuropathy v3.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Royal Melbourne Hospital Royal Melbourne Hospital Disease associations Charcot-Marie-Tooth disease, axonal, type 2V MIM#616491 Tags
Amber Amber List (moderate evidence)	NAGLU Pain syndromes v1.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Disease associations Mucopolysaccharidosis type IIIB (Sanfilippo B), AR, 252920 Late-onset painful sensory neuropathy, AD Tags
Amber Amber List (moderate evidence)	NAXE_NME_GGGCC STR Leukodystrophy v1.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Literature Disease associations encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 MONDO:0020781 Tags
Amber Amber List (moderate evidence)	NDUFA11 Mitochondrial disease v2.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex I deficiency, nuclear type 14, MIM#618236 Tags
Amber Amber List (moderate evidence)	NDUFA2 Leukodystrophy v1.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations Mitochondrial complex I deficiency, nuclear type 13 618235 leukoencephalopathy Tags
Amber Amber List (moderate evidence)	NDUFA2 Genetic Epilepsy v2.60	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235 Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000 Tags
Amber Amber List (moderate evidence)	NDUFA8 Mitochondrial disease v2.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Mitochondrial complex I deficiency, nuclear type 37, MIM# 619272 Developmental delay microcehaly seizures Tags
Amber Amber List (moderate evidence)	NDUFA8 Genetic Epilepsy v2.60	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Expert list Expert Review Amber Literature Disease associations Mitochondrial complex I deficiency, nuclear type 37 - 619272 Epilepsy Microcephaly Developmental Delay Tags
Amber Amber List (moderate evidence)	NDUFAF3 Genetic Epilepsy v2.60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Mitochondrial complex I deficiency, MIM#252010 Tags
Amber Amber List (moderate evidence)	NDUFAF4 Genetic Epilepsy v2.60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Mitochondrial complex I deficiency, MIM#252010 Tags
Amber Amber List (moderate evidence)	NDUFAF8 Genetic Epilepsy v2.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Mitochondrial complex I deficiency, nuclear type 34, MIM#618776 Leigh Syndrome MONDO:0009723 Tags
Amber Amber List (moderate evidence)	NDUFB9 Mitochondrial disease v2.12	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex I deficiency, nuclear type 24, MIM#618245 Tags
Amber Amber List (moderate evidence)	NDUFC2 Mitochondrial disease v2.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations Mitochondrial complex I deficiency, nuclear type 36, MIM# 619170 Tags
Amber Amber List (moderate evidence)	NDUFS1 Genetic Epilepsy v2.60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Mitochondrial complex I deficiency, MIM#252010 Tags
Amber Amber List (moderate evidence)	NDUFS2 Genetic Epilepsy v2.60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Mitochondrial complex I deficiency, MIM#252010 Tags
Amber Amber List (moderate evidence)	NDUFS6 Genetic Epilepsy v2.60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Mitochondrial complex I deficiency, MIM#252010 Tags
Amber Amber List (moderate evidence)	NDUFS7 Genetic Epilepsy v2.60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Leigh syndrome, MIM#256000 Tags
Amber Amber List (moderate evidence)	NDUFV2 Genetic Epilepsy v2.60	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229 Tags
Amber Amber List (moderate evidence)	NECAP1 Genetic Epilepsy v2.60	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Epileptic encephalopathy, early infantile, 21, MIM#615833 Tags
Amber Amber List (moderate evidence)	NF1 Genetic Epilepsy v2.60	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Neurofibromatosis, type 1 (MIM#162200) Tags
Amber Amber List (moderate evidence)	NFASC Hereditary Neuropathy v3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations neurodevelopmental disorder with central and peripheral motor dysfunction, MONDO:0032698 Tags
Amber Amber List (moderate evidence)	NHLRC1 Early-onset Parkinson disease v3.33	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Epilepsy, progressive myoclonic 2B (Lafora), MIM# 254780 Lafora disease Progressive Myoclonic Epilepsy Parkinsonism Tags
Amber Amber List (moderate evidence)	NMNAT2 Pain syndromes v1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Research Genomics England PanelApp Disease associations polyneuropathy erythromelalgia Tags
Amber Amber List (moderate evidence)	NOS3 Cerebral vascular malformations v2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Moyamoya disease 8, MIM# 621469 Tags
Amber Amber List (moderate evidence)	NPC2 Leukodystrophy v1.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Expert list Disease associations Niemann-pick disease, type C2 607625 Tags
Amber Amber List (moderate evidence)	NUBPL Genetic Epilepsy v2.60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Mitochondrial complex I deficiency, MIM#252010 Tags
Amber Amber List (moderate evidence)	NUP54 Dystonia and Chorea v1.13	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Dystonia 37, early-onset, with striatal lesions, MIM# 620427 Early onset dystonia progressive neurological deterioration ataxia dysarthria dysphagia hypotonia Tags
Amber Amber List (moderate evidence)	OFD1 Genetic Epilepsy v2.60	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Literature Disease associations Orofaciodigital syndrome I (MIM#311200) Tags
Amber Amber List (moderate evidence)	OGDH Ataxia v2.272	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Hereditary ataxia MONDO:0100309 Tags
Amber Amber List (moderate evidence)	OPLAH Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Disease associations 5-oxoprolinase deficiency MIM#260005 Disorders of the gamma-glutamyl cycle Tags
Amber Amber List (moderate evidence)	OTUD5 Genetic Epilepsy v2.60	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Disease associations Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, MIM# 301056 Tags
Amber Amber List (moderate evidence)	OTX2 Genetic Epilepsy v2.60	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Microphthalmia, syndromic 5 610125 Tags
Amber Amber List (moderate evidence)	P4HTM Mitochondrial disease v2.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities OMIM #618493 Tags
Amber Amber List (moderate evidence)	PACSIN3 Rhabdomyolysis and Metabolic Myopathy v2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Congenital myopathy 27, MIM# 621343 Tags
Amber Amber List (moderate evidence)	PAK2 Genetic Epilepsy v2.60	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Knobloch 2 syndrome MIM#618458 Tags
Amber Amber List (moderate evidence)	PAK3 Genetic Epilepsy v2.60	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Disease associations Intellectual developmental disorder, X-linked 30 (MIM#300558) Tags
Amber Amber List (moderate evidence)	PANK2 Brain Calcification v3.0	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations Neurodegeneration with brain iron accumulation 1, MIM# 234200 Tags
Amber Amber List (moderate evidence)	PAX6 Genetic Epilepsy v2.60	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Disease associations Aniridia (MIM#106210) Tags
Amber Amber List (moderate evidence)	PCBD1 Neurotransmitter Defects v2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Disease associations Hyperphenylalaninemia, BH4-deficient, D, MIM# 264070 Tags
Amber Amber List (moderate evidence)	PCDHA9 Motor Neurone Disease v2.29	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations amyotrophic lateral sclerosis MONDO:0004976 Tags
Amber Amber List (moderate evidence)	PCK2 Hereditary Neuropathy v3.0	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Literature Disease associations Peripheral neuropathy (MONDO#0005244), PCK2-related Tags
Amber Amber List (moderate evidence)	PCK2 Mitochondrial disease v2.12	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Literature Disease associations Peripheral neuropathy (MONDO#0005244), PCK2-related Tags
Amber Amber List (moderate evidence)	PCNA Ataxia v2.272	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber ClinGen Disease associations hereditary ataxia MONDO:0100309 Tags
Amber Amber List (moderate evidence)	PDSS2 Genetic Epilepsy v2.60	2 reviews 1 green	Unknown	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Coenzyme Q10 deficiency, primary, 3, MIM#614652 Tags
Amber Amber List (moderate evidence)	PFAS Miscellaneous Metabolic Disorders v2.3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Literature Disease associations Inborn error of metabolism, MONDO:0019052, PFAS-related Tags
Amber Amber List (moderate evidence)	PFKM Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Disease associations Glycogen storage disease VII (MIM#232800) Tags
Amber Amber List (moderate evidence)	PGAP2 Genetic Epilepsy v2.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Disease associations Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628 Tags
Amber Amber List (moderate evidence)	PGM3 Genetic Epilepsy v2.60	3 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Idiopathic focal epilepsy Immunodeficiency 23, MIM# 615816 Tags
Amber Amber List (moderate evidence)	PIGU Genetic Epilepsy v2.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Glycosylphosphatidylinositol biosynthesis defect 21 OMIM #618590 Tags
Amber Amber List (moderate evidence)	PIGU Congenital Disorders of Glycosylation v2.2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations Glycosylphosphatidylinositol biosynthesis defect 21, OMIM #618590 Tags
Amber Amber List (moderate evidence)	PIK3C2B Genetic Epilepsy v2.60	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations familial partial epilepsy - MONDO#0017704 Tags
Amber Amber List (moderate evidence)	PKD2 Cerebral vascular malformations v2.0	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Expert Review Amber Victorian Clinical Genetics Services Disease associations Polycystic kidney disease 2 613095 Tags
Amber Amber List (moderate evidence)	PLD3 Ataxia v2.272	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources GeneReviews Royal Melbourne Hospital Expert Review Amber Expert Review Amber Royal Melbourne Hospital GeneReviews Disease associations ?Spinocerebellar ataxia 46 Tags
Amber Amber List (moderate evidence)	PLD3 Leukodystrophy v1.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Amber Literature Disease associations Leukodystrophy Tags
Amber Amber List (moderate evidence)	PLEKHG2 Leukodystrophy v1.12	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Amber Expert list Expert list Disease associations Leukodystrophy and acquired microcephaly with or without dystonia 616763 Tags
Amber Amber List (moderate evidence)	PLP1 Hereditary Neuropathy v3.0	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Royal Melbourne Hospital Disease associations Pelizaeus-Merzbacher disease (MIM#312080) Tags
Amber Amber List (moderate evidence)	PNPLA6 Early-onset Parkinson disease v3.33	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations PNPLA6-related spastic paraplegia with or without ataxia MONDO:0100149 Tags
Amber Amber List (moderate evidence)	PNPLA6 Hereditary Spastic Paraplegia v2.111	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations Spastic paraplegia 39, autosomal recessive, MIM# 612020 Tags
Amber Amber List (moderate evidence)	POFUT1 Congenital Disorders of Glycosylation v2.2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Victorian Clinical Genetics Services Disease associations Dowling-Degos disease 2 (MIM# 615327) Tags
Amber Amber List (moderate evidence)	POLG Early-onset Dementia v2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Mitochondrial DNA depletion syndrome 4a MONDO:0008758 Tags
Amber Amber List (moderate evidence)	POLG2 Leukodystrophy v1.12	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Royal Melbourne Hospital Expert Review Amber Expert Review Amber Disease associations Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 610131 Tags
Amber Amber List (moderate evidence)	POLG2 Genetic Epilepsy v2.60	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 MIM#610131 Tags
Amber Amber List (moderate evidence)	POLR1A Leukodystrophy v1.12	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations Leukodystrophy, hypomyelinating, 27, MIM# 620675 Tags
Amber Amber List (moderate evidence)	POLR1A Genetic Epilepsy v2.60	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Disease associations Acrofacial dysostosis, Cincinnati type MIM#616462 Tags
Amber Amber List (moderate evidence)	POMGNT2 Genetic Epilepsy v2.60	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8 MIM#614830 Tags
Amber Amber List (moderate evidence)	POMK Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249 Tags
Amber Amber List (moderate evidence)	POMK Genetic Epilepsy v2.60	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 MIM#615249 Tags
Amber Amber List (moderate evidence)	POMT2 Genetic Epilepsy v2.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM#613150 Tags
Amber Amber List (moderate evidence)	POU3F3 Genetic Epilepsy v2.60	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Expert Review Green Literature Disease associations Snijders Blok-Fisher syndrome MIM#618604 Tags
Amber Amber List (moderate evidence)	PPP1CB Genetic Epilepsy v2.60	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Expert Review Green Victorian Clinical Genetics Services Disease associations Noonan syndrome-like disorder with loose anagen hair 2 MIM#617506 Tags
Amber Amber List (moderate evidence)	PPP1R3F Genetic Epilepsy v2.60	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Disease associations Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related Tags
Amber Amber List (moderate evidence)	PPP2R2B Genetic Epilepsy v2.60	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder MONDO:0700092, PPP2R2B-related Tags
Amber Amber List (moderate evidence)	PPT1 Leukodystrophy v1.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations Ceroid lipofuscinosis, neuronal, 1 256730 Tags
Amber Amber List (moderate evidence)	PRDM13 Ataxia v2.272	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MONDO:0859229 pontocerebellar hypoplasia, IIA 17, MONDO:0030890 Tags
Amber Amber List (moderate evidence)	PREP Genetic Epilepsy v2.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Literature Disease associations Neurodevelopmental disorder (MONDO:0700092), PREP-related Tags
Amber Amber List (moderate evidence)	PRICKLE2 Genetic Epilepsy v2.60	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder MONDO:0700092, PRICKLE2-related Tags
Amber Amber List (moderate evidence)	PRODH Genetic Epilepsy v2.60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Hyperprolinemia, type I, MIM# 239500 Proline oxidase deficiency Tags
Amber Amber List (moderate evidence)	PRPH Hereditary Neuropathy v3.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Disease associations Hereditary motor and sensory neuropathy MONDO:0015358, PRPH-related Tags
Amber Amber List (moderate evidence)	PRPH Motor Neurone Disease v2.29	3 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Amber Expert list Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations {Amyotrophic lateral sclerosis, susceptibility to}, 105400 Tags
Amber Amber List (moderate evidence)	PSAT1 Genetic Epilepsy v2.60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Phosphoserine aminotransferase deficiency, MIM#610992 Tags
Amber Amber List (moderate evidence)	PSMC3 Hereditary Neuropathy v3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354 Tags
Amber Amber List (moderate evidence)	PSPH Genetic Epilepsy v2.60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Phosphoserine phosphatase deficiency, MIM#614023 Tags
Amber Amber List (moderate evidence)	PTF1A Genetic Epilepsy v2.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Pancreatic and cerebellar agenesis, MIM#609069 Tags
Amber Amber List (moderate evidence)	PTPA Early-onset Parkinson disease v3.33	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Intellectual disability, MONDO: 36073231, PTPA-related Parkinson disease MONDO:0005180, PTPA-related Tags
Amber Amber List (moderate evidence)	PUSL1 Mitochondrial disease v2.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Literature Disease associations Mitochondrial disease, MONDO:0044970, PUSL1-related Tags
Amber Amber List (moderate evidence)	PYGM Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Disease associations McArdle disease (MIM#232600) Tags
Amber Amber List (moderate evidence)	RAB3GAP1 Genetic Epilepsy v2.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Warburg micro syndrome 1, MIM#600118 Tags
Amber Amber List (moderate evidence)	RAB3GAP2 Genetic Epilepsy v2.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Martsolf syndrome, MIM#212720 Warburg micro syndrome 2, MIM#614225 Tags
Amber Amber List (moderate evidence)	RALGAPB Genetic Epilepsy v2.60	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorders, autism Tags
Amber Amber List (moderate evidence)	RAPGEF2_FAME7_TTTCA STR Genetic Epilepsy v2.60	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Epilepsy, familial adult myoclonic, 7 MIM#618075 Tags
Amber Amber List (moderate evidence)	RBFOX3 Genetic Epilepsy v2.60	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder (MONDO:0700092), RBFOX3-related Tags
Amber Amber List (moderate evidence)	RBL2 Genetic Epilepsy v2.60	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Literature Disease associations Brunet-Wagner neurodevelopmental syndrome, MIM# 619690 Tags
Amber Amber List (moderate evidence)	RBMX Early-onset Dementia v2.14	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Expert Review Disease associations Amyotrophic lateral sclerosis MONDO:0004976, RBMX-related Tags
Amber Amber List (moderate evidence)	RBMX Motor Neurone Disease v2.29	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Expert Review Disease associations Amyotrophic lateral sclerosis MONDO:0004976, RBMX-related Tags
Amber Amber List (moderate evidence)	RFXANK Ataxia v2.272	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Progressive Ataxia and Neurologic Regression MHC class II deficiency, complementation group B MIM#209920 Tags
Amber Amber List (moderate evidence)	RNF13 Motor Neurone Disease v2.29	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Expert Review Green Literature Disease associations Amyotrophic lateral sclerosis Tags
Amber Amber List (moderate evidence)	RNF216 Leukodystrophy v1.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Amber Royal Melbourne Hospital Disease associations Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 Tags
Amber Amber List (moderate evidence)	RPIA Genetic Epilepsy v2.60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Expert Review Green Victorian Clinical Genetics Services Disease associations Ribose 5-phosphate isomerase deficiency, MIM 608611 Tags
Amber Amber List (moderate evidence)	RRM1 Mitochondrial disease v2.12	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Expert Review Amber Disease associations Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6, MIM# 620647 Tags
Amber Amber List (moderate evidence)	RRP12 Brain Calcification v3.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Literature Disease associations Basal ganglia calcification, idiopathic, 11, autosomal recessive, MIM# 621452 Tags
Amber Amber List (moderate evidence)	RUSC2 Genetic Epilepsy v2.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Mental retardation, autosomal recessive 61, MIM# 617773 Tags
Amber Amber List (moderate evidence)	RYR3 Genetic Epilepsy v2.60	5 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber ClinGen Expert list Disease associations Developmental and epileptic encephalopathy MONDO:0100062, RYR3-related Tags
Amber Amber List (moderate evidence)	SACS Genetic Epilepsy v2.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Spastic ataxia, Charlevoix-Saguenay type MIM#270550 Tags
Amber Amber List (moderate evidence)	SAMHD1 Dystonia and Chorea v1.13	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations Aicardi-Goutieres syndrome 5 MIM#612952 Tags
Amber Amber List (moderate evidence)	SARDH Miscellaneous Metabolic Disorders v2.3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Amber Literature Victorian Clinical Genetics Services Disease associations Sarcosinemia MIM#268900 Disorders of serine, glycine or glycerate metabolism Tags
Amber Amber List (moderate evidence)	SARDH Early-onset Dementia v2.14	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Literature Expert Review Amber Expert Review Amber Expert Review Amber Expert Review Amber Literature Victorian Clinical Genetics Services Disease associations Sarcosinemia MIM#268900 Disorders of serine, glycine or glycerate metabolism Tags
Amber Amber List (moderate evidence)	SCN10A Genetic Epilepsy v2.60	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder (MONDO#0700092), SCN10A-related Tags
Amber Amber List (moderate evidence)	SCO1 Genetic Epilepsy v2.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Mitochondrial complex IV deficiency, nuclear type 4, MIM# 619048 Tags
Amber Amber List (moderate evidence)	SCP2 Peroxisomal Disorders v1.8	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Disease associations Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724 Tags
Amber Amber List (moderate evidence)	SCP2 Neurodegeneration with brain iron accumulation v2.0	4 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724 Neurodegeneration with brain iron accumulation ataxia Tags
Amber Amber List (moderate evidence)	SDHA Ataxia v2.272	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Expert Review Amber Expert list Disease associations Neurodegeneration with ataxia and late-onset optic atrophy, MIM# 619259 Tags
Amber Amber List (moderate evidence)	SDHA Genetic Epilepsy v2.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Leigh syndrome, MIM#256000 Tags
Amber Amber List (moderate evidence)	SETD5 Cerebral vascular malformations v2.0	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Expert Review Green Victorian Clinical Genetics Services Disease associations Moya Moya Mental retardation, autosomal dominant 23, MIM# 615761 Tags
Amber Amber List (moderate evidence)	SFPQ Motor Neurone Disease v2.29	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Amyotrophic lateral sclerosis, MONDO:0004976, SFPQ-related Tags
Amber Amber List (moderate evidence)	SGMS1 Lysosomal Storage Disorder v2.2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Disease associations complex neurodevelopmental disorder MONDO:0100038 Tags
Amber Amber List (moderate evidence)	SGPL1 Hereditary Neuropathy v3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Disease associations RENI syndrome (MIM#617575) Tags
Amber Amber List (moderate evidence)	SHPK Miscellaneous Metabolic Disorders v2.3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Sedoheptulokinase deficiency MIM#617213 Tags
Amber Amber List (moderate evidence)	SIDT2 Lysosomal Storage Disorder v2.2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Lysosomal storage disease, MONDO:0002561, SIDT2-related Tags
Amber Amber List (moderate evidence)	SIDT2 Ataxia v2.272	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Lysosomal storage disease, MONDO:0002561, SIDT2-related Tags
Amber Amber List (moderate evidence)	SIX3 Genetic Epilepsy v2.60	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Holoprosencephaly 2, MIM#157170 Tags
Amber Amber List (moderate evidence)	SLC13A5 Leukodystrophy v1.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations Epileptic encephalopathy, early infantile, 25 615905 Tags
Amber Amber List (moderate evidence)	SLC1A1 Miscellaneous Metabolic Disorders v2.3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Disease associations Dicarboxylic aminoaciduria, MIM#222730 Tags
Amber Amber List (moderate evidence)	SLC20A2 Genetic Epilepsy v2.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Basal ganglia calcification, idiopathic, 1, MIM# 213600 Tags
Amber Amber List (moderate evidence)	SLC25A10 Mitochondrial disease v2.12	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Disease associations Intractable epileptic encephalopathy Mitochondrial DNA depletion syndrome 19, MIM# 618972 Tags
Amber Amber List (moderate evidence)	SLC25A21 Mitochondrial disease v2.12	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Expert Review Amber NHS GMS Disease associations Mitochondrial DNA depletion syndrome-18 MIM#618811 Tags
Amber Amber List (moderate evidence)	SLC26A2 Congenital Disorders of Glycosylation v2.2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Disease associations Skeletal dysplasia (various) Tags
Amber Amber List (moderate evidence)	SLC35A1 Genetic Epilepsy v2.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Disease associations Congenital disorder of glycosylation, type IIf, MIM# 603585 Tags
Amber Amber List (moderate evidence)	SLC35A3 Genetic Epilepsy v2.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Disease associations Arthrogryposis, mental retardation, and seizures OMIM #615553 Tags
Amber Amber List (moderate evidence)	SLC35B2 Leukodystrophy v1.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Leukodystrophy, MONDO:0019046, SLC35B2-related Tags
Amber Amber List (moderate evidence)	SLC36A2 Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Hyperglycinuria MIM#138500 Iminoglycinuria, digenic MIM#242600 Disorders of amino acid transport Tags
Amber Amber List (moderate evidence)	SLC39A8 Mitochondrial disease v2.12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Expert Review Green Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type IIn MIM#616721 Tags
Amber Amber List (moderate evidence)	SLC45A1 Genetic Epilepsy v2.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Intellectual developmental disorder with neuropsychiatric features, MIM# 617532 Tags
Amber Amber List (moderate evidence)	SLC52A1 Rhabdomyolysis and Metabolic Myopathy v2.0	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Victorian Clinical Genetics Services Disease associations Maternal riboflavin deficiency MONDO:0014013 Tags
Amber Amber List (moderate evidence)	SLC7A2 Leukodystrophy v1.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Leukodystrophy, MONDO:0019046, SLC7A2-related Tags founder
Amber Amber List (moderate evidence)	SLC9A7 Congenital Disorders of Glycosylation v2.2	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Expert list Disease associations Intellectual developmental disorder, X-linked 108, OMIM #301024 Tags
Amber Amber List (moderate evidence)	SMAD9 Cerebral vascular malformations v2.0	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Expert Review Amber Victorian Clinical Genetics Services Tags
Amber Amber List (moderate evidence)	SMDT1 Rhabdomyolysis and Metabolic Myopathy v2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Literature Disease associations Mitochondrial disease, MONDO:0044970, SMDT1-related Tags
Amber Amber List (moderate evidence)	SMDT1 Mitochondrial disease v2.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Mitochondrial disease, MONDO:0044970, SMDT1-related Tags
Amber Amber List (moderate evidence)	SNIP1 Genetic Epilepsy v2.60	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Disease associations Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501 Tags founder
Amber Amber List (moderate evidence)	SORL1 Early-onset Dementia v2.14	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Alzheimer disease, MONDO:0004975, SORL1-related Tags
Amber Amber List (moderate evidence)	SOX10 Hereditary Spastic Paraplegia v2.111	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Royal Melbourne Hospital Disease associations Neurocristopathy PCWH syndrome, MIM#609136 Complicated hereditary spastic paraplegia Tags
Amber Amber List (moderate evidence)	SPAST Leukodystrophy v1.12	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Expert list Disease associations Spastic paraplegia 4, autosomal dominant 182601 Tags
Amber Amber List (moderate evidence)	SPEN Genetic Epilepsy v2.60	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Expert Review Green Literature Disease associations Radio-Tartaglia syndrome MIM#619312 Tags
Amber Amber List (moderate evidence)	SPG7 Leukodystrophy v1.12	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Expert list Disease associations Spastic paraplegia 7, autosomal recessive, MIM# 607259 Tags
Amber Amber List (moderate evidence)	SPTSSA Hereditary Spastic Paraplegia v2.111	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Spastic paraplegia 90B, autosomal recessive , MIM# 620417 Spastic paraplegia 90A, autosomal dominant, MIM# 620416 Tags
Amber Amber List (moderate evidence)	SQOR Mitochondrial disease v2.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Leigh-like disorder Sulfide:quinone oxidoreductase deficiency (SQORD), MIM#619221 Tags
Amber Amber List (moderate evidence)	SQSTM1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations myopathy, distal, with rimmed vacuoles MONDO:0014945 multisystem proteinopathy Tags
Amber Amber List (moderate evidence)	SQSTM1 Early-onset Dementia v2.14	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (MIM#616437) Tags
Amber Amber List (moderate evidence)	SQSTM1 Motor Neurone Disease v2.29	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Royal Melbourne Hospital Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 MONDO:0014640 Tags
Amber Amber List (moderate evidence)	SRD5A3 Genetic Epilepsy v2.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations Congenital disorder of glycosylation, type Iq, MIM# 612379 Tags
Amber Amber List (moderate evidence)	SREBF2 Hereditary Spastic Paraplegia v2.111	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Literature Disease associations Hereditary spastic paraplegia, MONDO:0019064, SREBF2-related Tags
Amber Amber List (moderate evidence)	SRPK3 Ataxia v2.272	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Disease associations intellectual developmental disorder, X-linked 114, MONDO:0975828 Tags
Amber Amber List (moderate evidence)	SS18L1 Motor Neurone Disease v2.29	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Disease associations amyotrophic lateral sclerosis (MONDO:0004976) Tags
Amber Amber List (moderate evidence)	SSR3 Congenital Disorders of Glycosylation v2.2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Congenital disorder of glycosylation Tags
Amber Amber List (moderate evidence)	ST3GAL3 Genetic Epilepsy v2.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Epileptic encephalopathy, early infantile, 15 , MIM#615006 Tags
Amber Amber List (moderate evidence)	STARD9 Genetic Epilepsy v2.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Literature Disease associations Syndromic disorder (MONDO:0002254), STARD9-related Tags
Amber Amber List (moderate evidence)	STX5 Congenital Disorders of Glycosylation v2.2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations congenital disorder of glycosylation MONDO#0015286, STX5-related Tags
Amber Amber List (moderate evidence)	SUCLA2 Hereditary Neuropathy v3.0	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Disease associations Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) (MONDO:0012791 MIM#612073) ‘Leigh’-like syndrome, deafness, progressive dystonia, mild methylmaolnic acidaemia, peripheral neuropathy Tags
Amber Amber List (moderate evidence)	SUCLG1 Genetic Epilepsy v2.60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), MIM#245400 Tags
Amber Amber List (moderate evidence)	SUGCT Miscellaneous Metabolic Disorders v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Glutaric aciduria III MIM#231690 Organic acidurias Tags
Amber Amber List (moderate evidence)	SV2A Genetic Epilepsy v2.60	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, SV2A-related Developmental and epileptic encephalopathy 113, MIM# 620772 Tags
Amber Amber List (moderate evidence)	SVBP Hereditary Spastic Paraplegia v2.111	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Spastic paraplegia 94, autosomal recessive, MIM# 621150 Tags founder
Amber Amber List (moderate evidence)	SVIL Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Expert Review Amber Literature Disease associations Myofibrillar myopathy 10 (MIM#619040) Tags
Amber Amber List (moderate evidence)	TAF15 Early-onset Dementia v2.14	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Expert list Disease associations Amyotrophic lateral sclerosis Frontotemporal dementia Tags
Amber Amber List (moderate evidence)	TAF15 Motor Neurone Disease v2.29	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Disease associations Amyotrophic lateral sclerosis Tags
Amber Amber List (moderate evidence)	TAF1C Genetic Epilepsy v2.60	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder (MONDO#0700092), TAF1C-related Tags
Amber Amber List (moderate evidence)	TBC1D20 Genetic Epilepsy v2.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Warburg micro syndrome 4, MIM#615663 Tags
Amber Amber List (moderate evidence)	TBC1D7_OPDM_CGG STR Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Literature Disease associations Oculopharyngodistal myopathy, TBC1D7-related MONDO:0025193 Tags
Amber Amber List (moderate evidence)	TBCB Leukodystrophy v1.12	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder with behavioural abnormalities and childhood onset spastic paraplegia, MIM# 621382 Tags
Amber Amber List (moderate evidence)	TBCB Hereditary Spastic Paraplegia v2.111	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder with behavioural abnormalities and childhood onset spastic paraplegia, MIM# 621382 Tags
Amber Amber List (moderate evidence)	TCEAL1 Genetic Epilepsy v2.60	3 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked, MIM# 301094 Tags
Amber Amber List (moderate evidence)	TDP1 Ataxia v2.272	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Disease associations Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250 Tags founder
Amber Amber List (moderate evidence)	TDP1 Hereditary Neuropathy v3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Disease associations Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250 Tags founder
Amber Amber List (moderate evidence)	TENM4 Early-onset Parkinson disease v3.33	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Amber Expert Review Amber Literature Disease associations tremor, hereditary essential, 5 MONDO:0014756 Tags
Amber Amber List (moderate evidence)	TFRC Metal Metabolism Disorders v1.1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Disease associations Disorders of iron metabolism TFRC-related combined immunodeficiency MONDO:0014760 Tags
Amber Amber List (moderate evidence)	THAP1 Neurodegeneration with brain iron accumulation v2.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations cervical dystonia dystonia dystonic tremor Tags
Amber Amber List (moderate evidence)	THAP11_SCA51_CAG STR Ataxia v2.272	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Amber Expert Review Amber Literature Disease associations Spinocerebellar ataxia 51 MONDO:0975800 Tags
Amber Amber List (moderate evidence)	THG1L Ataxia v2.272	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Disease associations Spinocerebellar ataxia, autosomal recessive 28, MIM# 618800 Tags founder
Amber Amber List (moderate evidence)	THG1L Genetic Epilepsy v2.60	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Expert list Expert Review Green Literature Disease associations Spinocerebellar ataxia, autosomal recessive 28 - 618800 Epilepsy Intellectual disability Tags founder
Amber Amber List (moderate evidence)	THOC2 Genetic Epilepsy v2.60	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Disease associations Intellectual developmental disorder, X-linked 12 MIM#300957 Tags
Amber Amber List (moderate evidence)	THSD1 Cerebral vascular malformations v2.0	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Expert Review Amber Victorian Clinical Genetics Services Disease associations subarachnoid hemorrhage Tags
Amber Amber List (moderate evidence)	TIA1 Motor Neurone Disease v2.29	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Disease associations Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia 619133 Tags
Amber Amber List (moderate evidence)	TIA1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations distal myopathy, Welander type MONDO:0011466 Tags digenic
Amber Amber List (moderate evidence)	TIA1 Early-onset Dementia v2.14	1 review	Other	Sources Expert Review Amber Literature Disease associations Multisystem proteinopathy Tags
Amber Amber List (moderate evidence)	TIMM22 Mitochondrial disease v2.12	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Amber NHS GMS NHS GMS Disease associations Mitochondrial disease, MONDO:0044970, TIMM22-related Tags
Amber Amber List (moderate evidence)	TLK2 Genetic Epilepsy v2.60	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Disease associations Intellectual developmental disorder, autosomal dominant 57 MIM#618050 Tags
Amber Amber List (moderate evidence)	TMEM106B Genetic Epilepsy v2.60	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Amber Literature Victorian Clinical Genetics Services Disease associations Leukodystrophy, hypomyelinating, 16 (MIM #617964) Tags
Amber Amber List (moderate evidence)	TMEM138 Ataxia v2.272	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Disease associations Joubert syndrome 16, MIM# 614465 Tags
Amber Amber List (moderate evidence)	TMEM231 Ataxia v2.272	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Disease associations Joubert syndrome 20, MIM# 614970 Meckel syndrome 11 615397 Tags
Amber Amber List (moderate evidence)	TMEM43 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Emery-Dreifuss muscular dystrophy 7, autosomal dominant MONDO:0013677 Tags
Amber Amber List (moderate evidence)	TMEM65 Mitochondrial disease v2.12	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Amber NHS GMS NHS GMS Disease associations Mitochondrial disease, MONDO:0044970, TMEM65-related Tags
Amber Amber List (moderate evidence)	TMEM70 Genetic Epilepsy v2.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM#614052 Tags
Amber Amber List (moderate evidence)	TNK2 Genetic Epilepsy v2.60	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations severe infantile onset epilepsy Tags
Amber Amber List (moderate evidence)	TNNT1 Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Expert list Victorian Clinical Genetics Services Disease associations Nemaline myopathy 5, Amish type MIM#605355 Tags
Amber Amber List (moderate evidence)	TOMM70 Leukodystrophy v1.12	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Leukodystrophy, MONDO:0019046, TOMM70-related Tags
Amber Amber List (moderate evidence)	TOMM70 Mitochondrial disease v2.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Mitochondrial disease, MONDO:0044970, TOMM70-related Tags
Amber Amber List (moderate evidence)	TOMM70 Ataxia v2.272	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations leukodystrophy, MONDO:0019046 Tags
Amber Amber List (moderate evidence)	TRAPPC11 Congenital Disorders of Glycosylation v2.2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Muscular dystrophy, limb-girdle, autosomal recessive 18 MIM# 615356 Tags
Amber Amber List (moderate evidence)	TRIP12 Genetic Epilepsy v2.60	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Disease associations Intellectual developmental disorder, autosomal dominant 49 MIM#617752 Tags
Amber Amber List (moderate evidence)	TRIP13 Genetic Epilepsy v2.60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Mosaic variegated aneuploidy syndrome 3, MIM# 617598 Tags founder
Amber Amber List (moderate evidence)	TRPA1 Pain syndromes v1.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Genomics England PanelApp Disease associations Familial episodic pain syndrome type I Episodic pain syndrome, familial, 615040 Tags
Amber Amber List (moderate evidence)	TRPC3 Ataxia v2.272	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources GeneReviews Royal Melbourne Hospital Expert Review Amber Expert Review Amber Royal Melbourne Hospital GeneReviews Tags
Amber Amber List (moderate evidence)	TRPV1 Rhabdomyolysis and Metabolic Myopathy v2.0	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Literature Disease associations Exertional heat stroke rhabdomyolysis Tags
Amber Amber List (moderate evidence)	TSEN15 Genetic Epilepsy v2.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Pontocerebellar hypoplasia, type 2F MIM#617026 Tags
Amber Amber List (moderate evidence)	TUBB2A Ataxia v2.272	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations ?progressive spastic ataxia syndrome resembling sacsinopathy Complex cortical dysplasia with other brain malformations 5, 615763 Tags
Amber Amber List (moderate evidence)	TWNK Leukodystrophy v1.12	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), MIM# 271245 Tags
Amber Amber List (moderate evidence)	TXN2 Mitochondrial disease v2.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Combined oxidative phosphorylation deficiency 29, MIM# 616811 Tags
Amber Amber List (moderate evidence)	UBA5 Ataxia v2.272	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital GeneReviews Disease associations ?Autosomal recessive spinocerebellar ataxia 24, 617133 Early infantile epileptic encephalopathy 44, 617132 Tags
Amber Amber List (moderate evidence)	UBA5 Hereditary Neuropathy v3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Literature Disease associations Hereditary peripheral neuropathy, MONDO:0020127, UBA5-related Tags
Amber Amber List (moderate evidence)	UBQLN4 Motor Neurone Disease v2.29	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Disease associations Amyotrophic lateral sclerosis Tags
Amber Amber List (moderate evidence)	UBR4 Ataxia v2.272	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations ?Episodic ataxia Episodic ataxia type 8, 616055 Tags
Amber Amber List (moderate evidence)	UBTF Genetic Epilepsy v2.60	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Disease associations Neurodegeneration, childhood-onset, with brain atrophy MIM#617672 Tags
Amber Amber List (moderate evidence)	UNC80 Hereditary Spastic Paraplegia v2.111	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Disease associations Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 Tags
Amber Amber List (moderate evidence)	UQCC3 Mitochondrial disease v2.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex III deficiency, nuclear type 9, MIM# 616111 Tags
Amber Amber List (moderate evidence)	UQCRH Mitochondrial disease v2.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Mitochondrial complex III deficiency, nuclear type 11, MIM#620137 Tags
Amber Amber List (moderate evidence)	UQCRQ Mitochondrial disease v2.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex III deficiency, nuclear type 4, MIM# 615159 Tags
Amber Amber List (moderate evidence)	UROC1 Miscellaneous Metabolic Disorders v2.3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations Urocanase deficiency, MIM#276880 Tags
Amber Amber List (moderate evidence)	USP8 Hereditary Spastic Paraplegia v2.111	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Disease associations Complicated hereditary spastic paraplegia Tags
Amber Amber List (moderate evidence)	VAMP1 Ataxia v2.272	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Royal Melbourne Hospital Expert Review Amber Expert Review Amber Disease associations Autosomal dominant spastic ataxia 1, 108600 Spastic ataxia 1, autosomal dominant, 108600 Tags founder
Amber Amber List (moderate evidence)	VAMP1 Dystonia and Chorea v1.13	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Disease associations Spastic ataxia 1, autosomal dominant, MIM# 108600 Tags founder
Amber Amber List (moderate evidence)	VAMP1 Hereditary Spastic Paraplegia v2.111	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Disease associations Spastic ataxia 1, autosomal dominant, MIM# 108600 Tags founder
Amber Amber List (moderate evidence)	VLDLR Genetic Epilepsy v2.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, MIM#224050 Tags
Amber Amber List (moderate evidence)	VPS37A Hereditary Spastic Paraplegia v2.111	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Disease associations Spastic paraplegia 53, autosomal recessive, MIM# 614898, AR Tags
Amber Amber List (moderate evidence)	VRK1 Ataxia v2.272	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations Pontocerebellar hypoplasia type 1A, 607596 Tags
Amber Amber List (moderate evidence)	WARS1 Hereditary Neuropathy v3.0	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Royal Melbourne Hospital Literature Literature Disease associations Neuronopathy, distal hereditary motor, type IX, MIM#617721 Tags
Amber Amber List (moderate evidence)	WDR26 Ataxia v2.272	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Skraban-Deardorff syndrome, MONDO:0054636 Tags
Amber Amber List (moderate evidence)	WDR45 Brain Calcification v3.0	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Expert list Disease associations Neurodegeneration with brain iron accumulation 5, MIM# 300894 Tags
Amber Amber List (moderate evidence)	WDTC1 Genetic Epilepsy v2.60	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Literature Disease associations Neurodevelopmental disorder MONDO:0700092, WDTC1-related Tags
Amber Amber List (moderate evidence)	WIPI2 Ataxia v2.272	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder, MONDO:0700092 Tags
Amber Amber List (moderate evidence)	XPR1 Genetic Epilepsy v2.60	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Disease associations Basal ganglia calcification, idiopathic, 6 MIM#616413 Tags
Amber Amber List (moderate evidence)	YME1L1 Mitochondrial disease v2.12	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Expert Review Amber NHS GMS Disease associations Optic atrophy 11 MIM#617302 Mitochondrial disease, MONDO:0044970, YME1L1-related Tags
Amber Amber List (moderate evidence)	ZMIZ1 Genetic Epilepsy v2.60	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies MIM#618659 Tags
Amber Amber List (moderate evidence)	ZRANB1 Genetic Epilepsy v2.60	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, ZRANB1-related Tags
Red Red List (low evidence)	ABCC6 Cerebral vascular malformations v2.0	4 reviews 2 green 1 red	Unknown	Sources Expert Review Red Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Disease associations Moyamoya disease Tags
Red Red List (low evidence)	ABCD3 Peroxisomal Disorders v1.8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Bile acid synthesis defect, congenital, 5 (MIM#616278) Tags
Red Red List (low evidence)	ACADL Fatty Acid Oxidation Defects v2.0	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Long chain acyl-CoA dehydrogenase deficiency MONDO:0020531 Tags disputed
Red Red List (low evidence)	ACE Cerebral vascular malformations v2.0	2 reviews 1 green 1 red	Not set	Sources Expert Review Green Genomics England PanelApp Expert Review Red Victorian Clinical Genetics Services Disease associations {Stroke, hemorrhagic} Tags
Red Red List (low evidence)	ACOX1 Hereditary Spastic Paraplegia v2.111	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Disease associations Pseudoneonatal adrenoleukodystrophy Tags
Red Red List (low evidence)	ACSL5 Fatty Acid Oxidation Defects v2.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Diarrhoea 13, MIM# 620357 Tags
Red Red List (low evidence)	ADCY5 Genetic Epilepsy v2.60	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Dyskinesia with orofacial involvement MIM#606703 Tags
Red Red List (low evidence)	ADGRG1 Cerebral vascular malformations v2.0	4 reviews 3 green 1 red	Not set	Sources Expert Review Red Expert Review Green Genomics England PanelApp Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations bilateral frontoparietal polymicrogyria MONDO:0011738 Tags
Red Red List (low evidence)	ADRA2B Genetic Epilepsy v2.60	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Cortical myoclonus and epilepsy Tags refuted
Red Red List (low evidence)	AFDN Genetic Epilepsy v2.60	1 review 1 red	Unknown	Sources Expert Review Red Literature Disease associations Epilepsy, MONDO:0015653 Tags SV/CNV
Red Red List (low evidence)	AFG3L2 Neurodegeneration with brain iron accumulation v2.0	2 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Spastic ataxia 5, autosomal recessive, MIM# 614487 Spinocerebellar ataxia 28, MIM# 610246 Tags
Red Red List (low evidence)	AFG3L2 Genetic Epilepsy v2.60	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations Spastic ataxia 5, autosomal recessive MIM#614487 Spinocerebellar ataxia 28 MIM#610246 Tags
Red Red List (low evidence)	AGO3 Genetic Epilepsy v2.60	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Intellectual disability Tags
Red Red List (low evidence)	AIFM1 Motor Neurone Disease v2.29	2 reviews 1 green 1 red	Unknown	Sources Expert Review Red Expert list Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	AIMP2 Leukodystrophy v1.12	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Red Expert list Disease associations Leukodystrophy, hypomyelinating, 17 618006 Tags
Red Red List (low evidence)	ALDOB Glycogen Storage Diseases v2.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Fructose intolerance, hereditary, MIM# 229600 Tags
Red Red List (low evidence)	ALG10 Congenital Disorders of Glycosylation v2.2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Congenital disorder of glycosylation, MONDO:0015286, ALG10-related Tags
Red Red List (low evidence)	ALG10 Genetic Epilepsy v2.60	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Congenital disorder of glycosylation, MONDO:0015286, ALG10-related Tags
Red Red List (low evidence)	ALG12 Genetic Epilepsy v2.60	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature NHS GMS Disease associations CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig OMIM: 607144 Tags
Red Red List (low evidence)	ALPL Early-onset Parkinson disease v3.33	2 reviews 1 green 1 red	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Hypophosphatasia, adult, MIM# 146300 Osteomalacia Parkinsonism Tags
Red Red List (low evidence)	ALPL Neurotransmitter Defects v2.0	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Hypophosphatasia Tags
Red Red List (low evidence)	ALS2 Early-onset Dementia v2.14	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	ALX4 Genetic Epilepsy v2.60	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Red Expert Review Disease associations Parietal foramina 2, MIM# 609597 Tags
Red Red List (low evidence)	AMACR Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Literature Victorian Clinical Genetics Services Disease associations rhabdomyolysis Tags
Red Red List (low evidence)	AMPD1 Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Disease associations Myopathy due to myoadenylate deaminase deficiency 615511 Rhabdomyolysis Tags disputed
Red Red List (low evidence)	AMPD2 Hereditary Spastic Paraplegia v2.111	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Disease associations Spastic paraplegia 63 MIM#615686 Tags
Red Red List (low evidence)	AMPD2 Hereditary Neuropathy v3.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Disease associations Global developmental delay, spasticity, seizures, dysmorphic facies, axonal neuropathy, agenesis of the corpus callosum and cerebellar hypoplasia on MRI Tags
Red Red List (low evidence)	AMPD2 Ataxia v2.272	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Expert Review Red Victorian Clinical Genetics Services Expert Review Green Victorian Clinical Genetics Services Disease associations Pontocerebellar hypoplasia, type 9, 615809 Tags
Red Red List (low evidence)	ANG Early-onset Dementia v2.14	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	ANG Early-onset Parkinson disease v3.33	1 review 1 red	Unknown	Sources Expert Review Red Literature Disease associations Parkinson disease MONDO:0005180 Tags
Red Red List (low evidence)	ANTXR1 Cerebral vascular malformations v2.0	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Disease associations GAPO syndrome MONDO:0009263 Tags
Red Red List (low evidence)	ARHGEF9 Neurotransmitter Defects v2.0	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Epileptic encephalopathy, early infantile, 8, MIM# 300607 Tags
Red Red List (low evidence)	ARL6 Ataxia v2.272	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 3, 600151 Tags
Red Red List (low evidence)	ARSI Hereditary Spastic Paraplegia v2.111	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Disease associations Childhood onset spastic paraplegia Tags
Red Red List (low evidence)	ARX Cerebral vascular malformations v2.0	2 reviews 1 green 1 red	Not set	Sources Expert Review Red Genomics England PanelApp Disease associations Cerebral Malformation Disorders Tags
Red Red List (low evidence)	ASAH1 Motor Neurone Disease v2.29	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 Tags
Red Red List (low evidence)	ATG2A Genetic Epilepsy v2.60	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations complex neurodevelopmental disorder, ATG2A-related - MONDO:0100038 Tags
Red Red List (low evidence)	ATG9A Early-onset Parkinson disease v3.33	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Young-onset Parkinson disease, MONDO:0017279 Tags
Red Red List (low evidence)	ATL2 Ataxia v2.272	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Other Disease associations Cerebellar ataxia, MONDO:0000437, ATL2-related Tags
Red Red List (low evidence)	ATN1 Brain Calcification v3.0	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Disease associations Dentatorubral-pallidoluysian atrophy, MIM# 125370 Tags STR
Red Red List (low evidence)	ATP1A2 Ataxia v2.272	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Royal Melbourne Hospital Expert Review Red Expert Review Red Royal Melbourne Hospital Disease associations Alternating hemiplegia of childhood 1, 104290 Familial hemiplegic migraine 2, 602481 Tags
Red Red List (low evidence)	ATP5MC3 Genetic Epilepsy v2.60	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Disease associations Dystonia, early-onset, and/or spastic paraplegia MIM#619681 Tags new gene name
Red Red List (low evidence)	ATP5PB Mitochondrial disease v2.12	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Disease associations Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation-2 (HUMOP2), MIM#620085 Tags
Red Red List (low evidence)	ATP7A Motor Neurone Disease v2.29	3 reviews 2 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Expert list Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Spinal muscular atrophy, distal, X-linked 3, 300489 Tags
Red Red List (low evidence)	ATP7B Early-onset Dementia v2.14	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	ATPAF2 Mitochondrial disease v2.12	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, OMIM# 604273 Tags
Red Red List (low evidence)	ATPAF2 Leukodystrophy v1.12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Disease associations ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 Tags
Red Red List (low evidence)	ATR Cerebral vascular malformations v2.0	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Disease associations Seckel syndrome 1 210600 Tags
Red Red List (low evidence)	ATXN10 Early-onset Parkinson disease v3.33	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Disease associations Spinocerebellar Ataxia 10 Parkinsonism OMIM 603516 Tags STR
Red Red List (low evidence)	AUTS2 Genetic Epilepsy v2.60	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Disease associations Intellectual developmental disorder, autosomal dominant 26 MIM#615834 Tags
Red Red List (low evidence)	B3GNT4 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Literature Disease associations Hereditary neurological disease, MONDO:0100545, B3GNT4-related Tags
Red Red List (low evidence)	BANF1 Hereditary Neuropathy v3.0	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Literature Disease associations Hereditary peripheral neuropathy, MONDO:0020127, BANF1-related Tags
Red Red List (low evidence)	BBS10 Ataxia v2.272	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 10, 615987 Tags
Red Red List (low evidence)	BBS12 Ataxia v2.272	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 12, 615989 Tags
Red Red List (low evidence)	BBS2 Ataxia v2.272	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 2, 615981 Tags
Red Red List (low evidence)	BBS4 Ataxia v2.272	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 4, 615982 Tags
Red Red List (low evidence)	BBS5 Ataxia v2.272	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 5, 615983 Tags
Red Red List (low evidence)	BBS7 Ataxia v2.272	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 7, 615984 Tags
Red Red List (low evidence)	BBS9 Ataxia v2.272	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 9, 615986 Tags
Red Red List (low evidence)	BCL11A Genetic Epilepsy v2.60	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert Review Disease associations Dias-Logan syndrome, MIM# 617101 Tags
Red Red List (low evidence)	BET1 Genetic Epilepsy v2.60	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Muscular dystrophy, congenital, with rapid progression, MIM# 254100 Tags
Red Red List (low evidence)	BICD2 Motor Neurone Disease v2.29	3 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, 615290 Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291 Tags
Red Red List (low evidence)	BRD9 Early-onset Parkinson disease v3.33	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Literature Disease associations Early onset Parkinson Disease MONDO:0017279 Tags
Red Red List (low evidence)	BTD Brain Calcification v3.0	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations Biotinidase deficiency, MIM# 253260 Tags
Red Red List (low evidence)	C19orf12 Genetic Epilepsy v2.60	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations Neurodegeneration with brain iron accumulation 4 MIM#614298 Tags
Red Red List (low evidence)	C1QB Brain Calcification v3.0	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations C1q deficiency, MIM# 613652 Tags
Red Red List (low evidence)	CACNA1B Dystonia and Chorea v1.13	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Other Other Disease associations Myoclonus-dystonia syndrome MONDO:0000903 Tags
Red Red List (low evidence)	CACNA1S Brain Channelopathies v2.0	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Hypokalemic periodic paralysis, type 1, MIM# 170400 Tags
Red Red List (low evidence)	CACNB4 Ataxia v2.272	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Royal Melbourne Hospital Expert list Expert Review Red Expert Review Red Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Episodic ataxia type 5, 613855 Tags
Red Red List (low evidence)	CAMLG Genetic Epilepsy v2.60	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Congenital disorder of glycosylation type IIz, OMIM #: 620201 Tags
Red Red List (low evidence)	CAMLG Congenital Disorders of Glycosylation v2.2	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Congenital disorder of glycosylation type IIz, OMIM #: 620201 Tags
Red Red List (low evidence)	CAMTA1 Genetic Epilepsy v2.60	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Disease associations Cerebellar dysfunction with variable cognitive and behavioral abnormalities MIM#614756 Tags
Red Red List (low evidence)	CASR Genetic Epilepsy v2.60	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red ClinGen Disease associations Epilepsy, MONDO:0005027 Tags disputed
Red Red List (low evidence)	CCDC22 Genetic Epilepsy v2.60	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Expert list Disease associations Ritscher-Schinzel syndrome 2 MIM#300963 Tags
Red Red List (low evidence)	CCDC28B Ataxia v2.272	3 reviews 2 red	Other	Sources Expert Review Red Expert list Victorian Clinical Genetics Services Disease associations {Bardet-Biedl syndrome 1, modifier of}, 209900 Tags
Red Red List (low evidence)	CCM2 Genetic Epilepsy v2.60	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Red Expert Review Disease associations Cerebral cavernous malformations-2, MIM#603284 Tags
Red Red List (low evidence)	CCND2 Genetic Epilepsy v2.60	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Disease associations Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 MIM#615938 Tags
Red Red List (low evidence)	CCT5 Hereditary Spastic Paraplegia v2.111	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Disease associations Neuropathy, hereditary sensory, with spastic paraplegia Sensory Neuropathy with Spastic Paraplegia Tags
Red Red List (low evidence)	CENPF Genetic Epilepsy v2.60	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations Stromme syndrome MIM#243605 Tags
Red Red List (low evidence)	CEP152 Cerebral vascular malformations v2.0	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Disease associations Seckel syndrome 5 613823 Tags
Red Red List (low evidence)	CEP63 Cerebral vascular malformations v2.0	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Expert Review Amber Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Seckel syndrome 6 614728 Tags
Red Red List (low evidence)	CHCHD10 Ataxia v2.272	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Red Expert Review Red Literature Disease associations autosomal dominant mitochondrial myopathy with exercise intolerance MONDO:0014532 Tags
Red Red List (low evidence)	CHCHD4 Mitochondrial disease v2.12	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Literature Disease associations Mitochondrial disease, MONDO:0044970, CHCHD4-related Tags
Red Red List (low evidence)	CHMP1A Ataxia v2.272	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Disease associations Pontocerebellar hypoplasia, type 8, 614961 Tags
Red Red List (low evidence)	CHMP2B Dystonia and Chorea v1.13	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Royal Melbourne Hospital Disease associations familial frontotemporal lobar degeneration (ALS17) Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Dystonia Tags
Red Red List (low evidence)	CHRM1 Genetic Epilepsy v2.60	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert Review Expert Review Amber Literature Disease associations Neurodevelopmental disorder intellectual disability autism epilepsy Tags
Red Red List (low evidence)	CHRNA7 Genetic Epilepsy v2.60	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations intellectual disability seizures hypotonia Tags cnv refuted
Red Red List (low evidence)	CHST8 Congenital Disorders of Glycosylation v2.2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Peeling Skin Syndrome Tags
Red Red List (low evidence)	CLASP1 Genetic Epilepsy v2.60	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations neurodevelopmental disorder MONDO:0700092, CLASP1-related Tags
Red Red List (low evidence)	CLCN2 Genetic Epilepsy v2.60	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert Review Disease associations {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628 {Epilepsy, juvenile absence, susceptibility to, 2}, 607628 {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 Tags refuted
Red Red List (low evidence)	CLPP Hereditary Spastic Paraplegia v2.111	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Disease associations Perrault syndrome 3 MIM#614129 Tags
Red Red List (low evidence)	COA3 Mitochondrial disease v2.12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex IV deficiency, nuclear type 14, MIM#619058 Tags
Red Red List (low evidence)	COA5 Mitochondrial disease v2.12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500 Tags
Red Red List (low evidence)	COASY Brain Calcification v3.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations Neurodegeneration with brain iron accumulation 6, MIM# 615643 Tags
Red Red List (low evidence)	COG2 Congenital Disorders of Glycosylation v2.2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type IIq (MIM# 617395) Tags
Red Red List (low evidence)	COL4A1 Rhabdomyolysis and Metabolic Myopathy v2.0	4 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Red Expert list Disease associations Recurrent rhabdomyolysis infections hypertrophic cardiomyopathy. Tags
Red Red List (low evidence)	COL4A2 Cerebral vascular malformations v2.0	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert Review Green Genomics England PanelApp Disease associations Stroke, hemorrhagic MIM#614519 Tags
Red Red List (low evidence)	COL4A2 Brain Calcification v3.0	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Disease associations Brain small vessel disease 2, MIM# 614483 Tags
Red Red List (low evidence)	COQ8A Leukodystrophy v1.12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Disease associations Coenzyme Q10 deficiency, primary, 4 612016 Tags
Red Red List (low evidence)	COQ9 Leukodystrophy v1.12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Disease associations Coenzyme Q10 deficiency, primary, 5 614654 Tags
Red Red List (low evidence)	COX4I2 Mitochondrial disease v2.12	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, MIM#612714 Tags
Red Red List (low evidence)	COX8A Mitochondrial disease v2.12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial complex IV deficiency, nuclear type 15, MIM#619059 Tags
Red Red List (low evidence)	CPA6 Genetic Epilepsy v2.60	3 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources ClinGen Expert Review Red Disease associations Epilepsy, familial temporal lobe, 5, MIM#614417 Febrile seizures, familial, 11, MIM#614418 Tags disputed refuted
Red Red List (low evidence)	CPAP Cerebral vascular malformations v2.0	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert Review Red Victorian Clinical Genetics Services Disease associations Seckel syndrome 4 613676 Tags
Red Red List (low evidence)	CRB1 Cerebral vascular malformations v2.0	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert Review Green Genomics England PanelApp Disease associations Pigmented paravenous chorioretinal atrophy MIM#172870 Tags
Red Red List (low evidence)	CRH Genetic Epilepsy v2.60	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red ClinGen Disease associations Epilepsy, MONDO:0005027 Tags refuted
Red Red List (low evidence)	CSMD2 Genetic Epilepsy v2.60	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Focal epilepsy - MONDO:0005384, CSMD2-related Tags
Red Red List (low evidence)	CSNK1E Genetic Epilepsy v2.60	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Developmental and epileptic encephalopathy, MONDO:0100062, CSNK1E-related Tags
Red Red List (low evidence)	CTSA Cerebral vascular malformations v2.0	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Expert Review Green Victorian Clinical Genetics Services Disease associations galactosialidosis MONDO:0009737 Tags
Red Red List (low evidence)	CYBRD1 Metal Metabolism Disorders v1.1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS Genomic Medicine Service Genomics England PanelApp Disease associations Iron metabolism disease, MONDO:0002279, CYBRD1-related Tags
Red Red List (low evidence)	CYP2U1 Ataxia v2.272	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Victorian Clinical Genetics Services Disease associations Spastic paraplegia 56, autosomal recessive, 615030 Tags
Red Red List (low evidence)	DAB1 Ataxia v2.272	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations Neurodevelopmental disorder, MONDO:0700092, DAB1-related Tags
Red Red List (low evidence)	DAB1 Genetic Epilepsy v2.60	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Expert Review Red Expert list Disease associations Neurodevelopmental disorder, MONDO:0700092, DAB1-related Tags
Red Red List (low evidence)	DAG1 Genetic Epilepsy v2.60	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818 Walker-Warburg syndrome and tectocerebellar dysgraphia Tags
Red Red List (low evidence)	DAO Motor Neurone Disease v2.29	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Disease associations Amyotrophic Lateral Sclerosis Tags refuted
Red Red List (low evidence)	DCAF17 Early-onset Parkinson disease v3.33	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	DCTN1 Dystonia and Chorea v1.13	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Disease associations Perry syndrome MIM#168605 Tags
Red Red List (low evidence)	DCX Cerebral vascular malformations v2.0	2 reviews 1 green 1 red	Not set	Sources Expert Review Red Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Disease associations lissencephaly spectrum disorders MONDO:0018838 Tags
Red Red List (low evidence)	DDHD1 Neurodegeneration with brain iron accumulation v2.0	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations spastic paraplegia sensory neuropathy Tags
Red Red List (low evidence)	DDIAS Genetic Epilepsy v2.60	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Literature Disease associations Neurodevelopmental disorder, MONDO:0700092 Tags
Red Red List (low evidence)	DENND5A Brain Calcification v3.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations Developmental and epileptic encephalopathy 49, MIM# 617281 Tags
Red Red List (low evidence)	DMGDH Miscellaneous Metabolic Disorders v2.3	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Dimethylglycine dehydrogenase deficiency MIM#605850 Tags
Red Red List (low evidence)	DNAH14 Genetic Epilepsy v2.60	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder (MONDO#0700092), DNAH14-related Tags disputed
Red Red List (low evidence)	DNAJC13 Early-onset Parkinson disease v3.33	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Tags
Red Red List (low evidence)	DNM2 Hereditary Spastic Paraplegia v2.111	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Royal Melbourne Hospital Expert Review Red Expert Review Red Royal Melbourne Hospital Disease associations Complicated hereditary spastic paraplegia Tags
Red Red List (low evidence)	DSE Congenital Disorders of Glycosylation v2.2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Ehlers-Danlos syndrome, musculocontractural type 2 (MIM# 615539) Tags
Red Red List (low evidence)	DYNC1H1 Motor Neurone Disease v2.29	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Royal Melbourne Hospital Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Spinal muscular atrophy, lower extremity-predominant 1, AD, MIM# 158600 Tags
Red Red List (low evidence)	EARS2 Dystonia and Chorea v1.13	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations Combined oxidative phosphorylation deficiency 12 MIM#614924 Tags
Red Red List (low evidence)	EED Genetic Epilepsy v2.60	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Cohen-Gibson syndrome, MIM# 617561 Tags
Red Red List (low evidence)	EEF2 Ataxia v2.272	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services GeneReviews Royal Melbourne Hospital Expert Review Red Expert Review Red Victorian Clinical Genetics Services Disease associations ?Spinocerebellar ataxia 26 Tags
Red Red List (low evidence)	EFHC1 Genetic Epilepsy v2.60	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations {Epilepsy, juvenile absence, susceptibility to, 1}, 607631 {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 Tags refuted
Red Red List (low evidence)	ELOVL1 Ataxia v2.272	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert list Expert list Victorian Clinical Genetics Services Disease associations Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, 618527 Tags
Red Red List (low evidence)	ELP1 Leukodystrophy v1.12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations neurodevelopmental disorder, MONDO:0700092, ELP1-related Tags
Red Red List (low evidence)	EMX2 Genetic Epilepsy v2.60	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Schizencephaly, MIM# 269160 Tags disputed
Red Red List (low evidence)	ERBB2 Hereditary Neuropathy v3.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Visceral neuropathy, familial, 2, autosomal recessive, MIM # 619465, Complex neurocristinopathy Tags
Red Red List (low evidence)	ERCC3 Brain Calcification v3.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations Xeroderma pigmentosum, group B, MIM# 610651 Tags
Red Red List (low evidence)	ERCC3 Leukodystrophy v1.12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Disease associations Trichothiodystrophy 2, photosensitive 616390 Tags
Red Red List (low evidence)	ERCC5 Brain Calcification v3.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations Xeroderma pigmentosum, group G Cockayne syndrome, MIM# 278780 Tags
Red Red List (low evidence)	ERCC6L2 Mitochondrial disease v2.12	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Bone marrow failure syndrome 2, MIM#615715 Tags
Red Red List (low evidence)	ERLIN1 Motor Neurone Disease v2.29	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations Amyotrophic lateral sclerosis Tags
Red Red List (low evidence)	EWSR1 Motor Neurone Disease v2.29	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Disease associations Amyotrophic lateral sclerosis Tags disputed
Red Red List (low evidence)	EXOSC4 Brain Calcification v3.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Literature Disease associations Neurodevelopmental disorder, MONDO:0700092 Tags
Red Red List (low evidence)	EXOSC8 Genetic Epilepsy v2.60	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Pontocerebellar hypoplasia, type 1C, MIM#616081 Tags
Red Red List (low evidence)	EXOSC8 Motor Neurone Disease v2.29	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Pontocerebellar hypoplasia, type 1C, MIM# 616081 Tags
Red Red List (low evidence)	FA2H Early-onset Dementia v2.14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Spastic paraplegia 35, autosomal recessive, MIM# 612319 Tags
Red Red List (low evidence)	FAAHP1 Pain syndromes v1.0	1 review 1 red	Unknown	Sources Expert Review Red Literature Genomics England PanelApp Disease associations Pain insensitivity Tags
Red Red List (low evidence)	FAM136A Mitochondrial disease v2.12	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Meniere's disease Tags
Red Red List (low evidence)	FAT1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Facioscapulohumeral muscular dystrophy (MONDO:0001347), FAT1-related Tags
Red Red List (low evidence)	FIG4 Early-onset Dementia v2.14	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	FIG4 Genetic Epilepsy v2.60	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Polymicrogyria, bilateral temporooccipital, MIM#612691 Tags
Red Red List (low evidence)	FKTN Rhabdomyolysis and Metabolic Myopathy v2.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Disease associations Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800 Fukuyama congenital muscular dystrophy Tags
Red Red List (low evidence)	FOLR1 Brain Calcification v3.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068 Tags
Red Red List (low evidence)	FOXG1 Hereditary Spastic Paraplegia v2.111	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Royal Melbourne Hospital Disease associations Rett syndrome Tags
Red Red List (low evidence)	FTH1 Metal Metabolism Disorders v1.1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS Genomic Medicine Service Genomics England PanelApp Disease associations Hemochromatosis, type 5, MIM# 615517 Tags 5'UTR
Red Red List (low evidence)	FUS Early-onset Parkinson disease v3.33	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations tremor, hereditary essential, 4 MONDO:0013888 Tags
Red Red List (low evidence)	GABBR1 Genetic Epilepsy v2.60	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Expert Review Green Literature Disease associations Neurodevelopmental disorder with language delay and variable cognitive abnormalities, MIM#620502 Tags
Red Red List (low evidence)	GABRA6 Genetic Epilepsy v2.60	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Literature Disease associations BFIE CAE Tags
Red Red List (low evidence)	GABRG1 Genetic Epilepsy v2.60	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations developmental and epileptic encephalopathy MONDO:0100062 Tags
Red Red List (low evidence)	GAD1 Hereditary Spastic Paraplegia v2.111	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Cerebralpalsy, spasticquadriplegic,1, 603513 Tags
Red Red List (low evidence)	GAL Genetic Epilepsy v2.60	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Literature Disease associations familial temporal lobe epilepsy 8 MONDO:0014650 Tags
Red Red List (low evidence)	GAN Leukodystrophy v1.12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Red Expert Review Red Disease associations Giant axonal neuropathy-1, MIM#256850 Tags
Red Red List (low evidence)	GATC Mitochondrial disease v2.12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Disease associations Mitochondrial cardiomyopathy Tags
Red Red List (low evidence)	GBX1 Genetic Epilepsy v2.60	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, GBX1-related Tags
Red Red List (low evidence)	GCH1 Early-onset Dementia v2.14	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	GCSH Miscellaneous Metabolic Disorders v2.3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Glycine encephalopathy MIM#605899 Disorders of serine, glycine or glycerate metabolism Tags
Red Red List (low evidence)	GDF2 Cerebral vascular malformations v2.0	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Disease associations Telangiectasia, hereditary hemorrhagic, type 5, MIM# 615506 Tags
Red Red List (low evidence)	GET4 Congenital Disorders of Glycosylation v2.2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations ?Congenital disorder of glycosylation,, type IIy MIM#620200 Tags
Red Red List (low evidence)	GIGYF2 Early-onset Parkinson disease v3.33	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations {Parkinson disease 11} , OMIM # 607688 Tags
Red Red List (low evidence)	GJB3 Hereditary Neuropathy v3.0	1 review 1 red	Not set	Sources Expert Review Red Royal Melbourne Hospital Disease associations HMSN erythrokeratodermia variabilis, hearing impairment and peripheral neuropathy Tags
Red Red List (low evidence)	GLYAT Miscellaneous Metabolic Disorders v2.3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, GLYAT-related Tags
Red Red List (low evidence)	GMPR Mitochondrial disease v2.12	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations progressive external ophthalmoplegia Tags
Red Red List (low evidence)	GNA11 Brain Calcification v3.0	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Disease associations Hypocalcemia, autosomal dominant 2, MIM# 615361 Tags
Red Red List (low evidence)	GNE Motor Neurone Disease v2.29	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations Amyotrophic lateral sclerosis Tags
Red Red List (low evidence)	GPHN Neurotransmitter Defects v2.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Molybdenum cofactor deficiency C, MIM# 615501 Tags
Red Red List (low evidence)	GPR88 Dystonia and Chorea v1.13	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations chorea, childhood-onset, with psychomotor retardation MONDO:0014839 Tags
Red Red List (low evidence)	GRID2 Hereditary Spastic Paraplegia v2.111	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert list Disease associations Complicated spastic paraplegia Tags
Red Red List (low evidence)	GSN Early-onset Dementia v2.14	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Disease associations Amyloidosis, Finnish type MIM#105120 Tags
Red Red List (low evidence)	GSN Hereditary Spastic Paraplegia v2.111	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Spastic ataxia, MONDO:0017845, GSN-related Tags
Red Red List (low evidence)	GSN Ataxia v2.272	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Spastic ataxia, MONDO:0017845, GSN-related Tags
Red Red List (low evidence)	GTF2H5 Leukodystrophy v1.12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Disease associations Trichothiodystrophy 3, photosensitive 616395 Tags
Red Red List (low evidence)	GUF1 Genetic Epilepsy v2.60	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations Epileptic encephalopathy, early infantile, 40, MIM# 617065 Tags
Red Red List (low evidence)	HARS2 Hereditary Spastic Paraplegia v2.111	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Disease associations Perrault syndrome 2, MIM#614926 Tags
Red Red List (low evidence)	HARS2 Ataxia v2.272	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Disease associations Perrault syndrome 2, MIM# 614926 Tags
Red Red List (low evidence)	HCN4 Genetic Epilepsy v2.60	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Disease associations {Epilepsy, idiopathic generalized, susceptibility to, 18}, MIM# 619521 Tags
Red Red List (low evidence)	HEPH Metal Metabolism Disorders v1.1	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red NHS Genomic Medicine Service Genomics England PanelApp Disease associations Iron metabolism defect Tags
Red Red List (low evidence)	HEPHL1 Metal Metabolism Disorders v1.1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red ClinGen Disease associations pili torti-developmental delay-neurological abnormalities syndrome MONDO:0009871 Tags
Red Red List (low evidence)	HEXA Early-onset Parkinson disease v3.33	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations GM2 Gangliosidosis Tay-Sachs disease Parkinsonism OMIM 272800 Tags
Red Red List (low evidence)	HIBADH Miscellaneous Metabolic Disorders v2.3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations organic aciduria Tags
Red Red List (low evidence)	HSPB3 Hereditary Neuropathy v3.0	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Royal Melbourne Hospital Disease associations Neuronopathy, distal hereditary motor, type IIC, MIM# 613376 Tags
Red Red List (low evidence)	HTRA2 Early-onset Dementia v2.14	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	IARS2 Genetic Epilepsy v2.60	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia MIM#616007 Tags
Red Red List (low evidence)	IBA57 Genetic Epilepsy v2.60	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Multiple mitochondrial dysfunctions syndrome 3 MIM#615330 Tags
Red Red List (low evidence)	IDH1 Genetic Epilepsy v2.60	1 review 1 red	Other	Sources Expert Review Red Literature Disease associations Ollier disease MONDO:0008145 Maffucci syndromeMONDO:0013808 Tags
Red Red List (low evidence)	IFRD1 Hereditary Spastic Paraplegia v2.111	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Royal Melbourne Hospital Disease associations Hereditary spastic paraplegia MONDO:0019064, IFRD1-related Tags refuted
Red Red List (low evidence)	IFRD1 Ataxia v2.272	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Expert Review Red Expert Review Expert Review Red Expert Review Red Expert Review Expert Review Red Literature Disease associations Hereditary spastic paraplegia MONDO:0019064, IFRD1-related Tags
Red Red List (low evidence)	IFRD1 Hereditary Neuropathy v3.0	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Royal Melbourne Hospital Disease associations Hereditary spastic paraplegia MONDO:0019064, IFRD1-related Tags refuted
Red Red List (low evidence)	IGHMBP2 Motor Neurone Disease v2.29	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Neuronopathy, distal hereditary motor, type VI 604320 Tags
Red Red List (low evidence)	INTS8 Genetic Epilepsy v2.60	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations ?Neurodevelopmental disorder with cerebellar hypoplasia and spasticity MIM#618572 Tags
Red Red List (low evidence)	IQGAP3 Hereditary Neuropathy v3.0	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Literature Disease associations Hereditary neuropathy, MONDO:0020127, IQGAP3-related Tags
Red Red List (low evidence)	IRAG1 Cerebral vascular malformations v2.0	2 reviews 2 red	Unknown	Sources Expert Review Red NHS GMS Expert Review Red Genomics England PanelApp Tags
Red Red List (low evidence)	ITGB4 Genetic Epilepsy v2.60	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Epidermolysis bullosa, junctional 5A, intermediate MIM#619816 Epidermolysis bullosa, junctional 5B, with pyloric atresia MIM#226730 Tags
Red Red List (low evidence)	JARID2 Genetic Epilepsy v2.60	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Disease associations Developmental delay with variable intellectual disability and dysmorphic facies MIM#620098 Tags
Red Red List (low evidence)	KCNA4 Genetic Epilepsy v2.60	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Epilepsy, MONDO:0005027, KCNA4-related Tags
Red Red List (low evidence)	KCNAB3 Genetic Epilepsy v2.60	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Disease associations Neurodevelopmental disorder (MONDO#0700092), KCNAB3-related Tags
Red Red List (low evidence)	KCNIP4 Genetic Epilepsy v2.60	1 review 1 red	Unknown	Sources Expert Review Red Literature Disease associations seizures epilepsy Tags
Red Red List (low evidence)	KCNJ11 Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Hyperinsulinemic hypoglycemia, familial, 2 MIM#601820 Tags
Red Red List (low evidence)	KCNJ15 Early-onset Parkinson disease v3.33	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Parkinson disease, MONDO:0005180, KCNJ15-related Tags
Red Red List (low evidence)	KCNN3 Genetic Epilepsy v2.60	3 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Expert Review Green Literature Disease associations Zimmermann-Laband syndrome 3 MIM#618658 Tags
Red Red List (low evidence)	KCTD13 Genetic Epilepsy v2.60	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert Review Red Expert list Disease associations Neurodevelopmental disorder (MONDO#0700092), KCTD13-related Tags
Red Red List (low evidence)	KDM5A Genetic Epilepsy v2.60	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder MONDO:0700092, KDM5A-related Tags
Red Red List (low evidence)	KDM6A Genetic Epilepsy v2.60	1 review 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Literature Disease associations Kabuki syndrome 2 MIM#300867 Tags
Red Red List (low evidence)	KEL Cerebral vascular malformations v2.0	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations vein of Galen aneurysm, MONDO:0015196 Tags
Red Red List (low evidence)	KIF1B Hereditary Neuropathy v3.0	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Royal Melbourne Hospital Royal Melbourne Hospital Disease associations Charcot-Marie-Tooth disease, type 2A1 MIM#118210 Tags
Red Red List (low evidence)	KIF5A Mitochondrial disease v2.12	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Red NHS GMS Victorian Clinical Genetics Services Disease associations Myoclonus, intractable, neonatal MIM#617235 Tags
Red Red List (low evidence)	KIFBP Genetic Epilepsy v2.60	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Goldberg-Shprintzen megacolon syndrome, MIM# 609460 Tags
Red Red List (low evidence)	KLC4 Hereditary Spastic Paraplegia v2.111	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Disease associations Neurodegeneration, early-childhood-onset, with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy, MIM# 621129 Tags
Red Red List (low evidence)	KLHL13 Hereditary Neuropathy v3.0	2 reviews 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Royal Melbourne Hospital Expert Review Expert Review Royal Melbourne Hospital Disease associations Hereditary peripheral neuropathy, MONDO:0020127, KLHL13-related Tags
Red Red List (low evidence)	KMT2B Genetic Epilepsy v2.60	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Disease associations Dystonia 28, childhood-onset MIM#617284 Intellectual developmental disorder, autosomal dominant 68 MIM#619934 Tags
Red Red List (low evidence)	KPNA7 Genetic Epilepsy v2.60	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Expert Review Red Literature Disease associations Neurodevelopmental disorder (MONDO#0700092), KPNA7-related Tags
Red Red List (low evidence)	LARS2 Hereditary Spastic Paraplegia v2.111	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Disease associations Perrault syndrome 4 MIM#615300 Tags
Red Red List (low evidence)	LAS1L Hereditary Neuropathy v3.0	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Expert Review Expert Review Disease associations congenital lethal motor neuron disease Tags
Red Red List (low evidence)	LAS1L Motor Neurone Disease v2.29	2 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Red Expert list Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations congenital lethal motor neuron disease Tags
Red Red List (low evidence)	LATS1 Cerebral vascular malformations v2.0	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Literature Disease associations cerebral cavernous malformations MONDO:0031037 Tags
Red Red List (low evidence)	LMX1B Genetic Epilepsy v2.60	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Disease associations Focal segmental glomerulosclerosis 10 MIM#256020 Nail-patella syndrome MIM#161200 Tags
Red Red List (low evidence)	LSM11 Brain Calcification v3.0	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Aicardi-Goutieres syndrome 8, MIM# 619486 Tags
Red Red List (low evidence)	MAGI2 Genetic Epilepsy v2.60	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Disease associations Monogenic epilepsy, MONDO:0015653, MAGI2-related Tags refuted
Red Red List (low evidence)	MARS1 Leukodystrophy v1.12	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Royal Melbourne Hospital Expert Review Red Expert Review Red Royal Melbourne Hospital Disease associations Charcot-Marie-Tooth disease, axonal, type 2U, 616280 Tags
Red Red List (low evidence)	MARS1 Hereditary Neuropathy v3.0	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Royal Melbourne Hospital Disease associations Charcot-Marie-Tooth disease, axonal, type 2U, MIM# 616280 Tags
Red Red List (low evidence)	MAT1A Dystonia and Chorea v1.13	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations Methionine adenosyltransferase deficiency, autosomal recessive MIM#250850 Tags
Red Red List (low evidence)	MCM3AP Genetic Epilepsy v2.60	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development (MIM#618124) Tags
Red Red List (low evidence)	MDN1 Genetic Epilepsy v2.60	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Literature Disease associations Genetic epilepsy, MONDO:0100575, MDN1-related Tags
Red Red List (low evidence)	ME2 Mitochondrial disease v2.12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations inborn disorder of energy metabolism MONDO:0019243 Tags
Red Red List (low evidence)	MED25 Hereditary Neuropathy v3.0	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Expert list Expert list Victorian Clinical Genetics Services Disease associations Charcot-Marie-Tooth disease, type 2B2 MIM#605589 Tags disputed
Red Red List (low evidence)	MICU2 Mitochondrial disease v2.12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Disease associations cognitive impairment spasticity white matter involvement Tags
Red Red List (low evidence)	MIEF1 Mitochondrial disease v2.12	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Disease associations Optic atrophy 14 (MIM#620550) Tags
Red Red List (low evidence)	MIEF2 Mitochondrial disease v2.12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations Combined oxidative phosphorylation deficiency 49, MIM# 619024 Progressive muscle weakness Exercise intolerance Ragged red and COX negative fibres Complex I and IV deficiency Tags
Red Red List (low evidence)	MMADHC Dystonia and Chorea v1.13	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations Homocystinuria, cblD type, variant 1 MIM#277410 Tags
Red Red List (low evidence)	MMS19 Genetic Epilepsy v2.60	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Neurodegenerative disease, MONDO:0005559, MMS19-related Tags
Red Red List (low evidence)	MOGS Dystonia and Chorea v1.13	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Disease associations Congenital disorder of glycosylation, type IIb, MIM# 606056 Tags
Red Red List (low evidence)	MPLKIP Leukodystrophy v1.12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Disease associations Trichothiodystrophy 4, nonphotosensitive 234050 Tags
Red Red List (low evidence)	MPV17 Pain syndromes v1.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Disease associations Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 Navajo neurohepatopathy Pain insensitivity Tags
Red Red List (low evidence)	MPV17 Dystonia and Chorea v1.13	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) MIM#256810 Tags
Red Red List (low evidence)	MRPL12 Mitochondrial disease v2.12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Growth retardation neurological deterioration mitochondrial translation deficiency Combined oxidative phosphorylation deficiency 45, MIM#618951 Tags
Red Red List (low evidence)	MRPL42 Mitochondrial disease v2.12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Disease associations complex neurodevelopmental disorder MONDO:0100038 Tags
Red Red List (low evidence)	MRPS16 Leukodystrophy v1.12	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Australian Genomcis Health Alliance Leukodystrophy Flagship Victorian Clinical Genetics Services Disease associations Combined oxidative phosphorylation deficiency 2, 610498 Tags
Red Red List (low evidence)	MRPS25 Mitochondrial disease v2.12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations Combined oxidative phosphorylation deficiency 50, MIM# 619025 Dyskinetic cerebral palsy Mitochondrial myopathy Partial agenesis of the corpus callosum Tags
Red Red List (low evidence)	MRPS28 Mitochondrial disease v2.12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations Intrauterine growth retardation developmental delay dysmorphism Combined oxidative phosphorylation deficiency 47, MIM618958 Tags
Red Red List (low evidence)	MT-ATP6 Brain Calcification v3.0	2 reviews 2 red	MITOCHONDRIAL	Sources Expert Review Red Expert list Disease associations Leigh syndrome, MONDO:0009723 Tags
Red Red List (low evidence)	MT-ND6 Early-onset Parkinson disease v3.33	2 reviews 1 green 1 red	MITOCHONDRIAL	Sources Expert Review Red Literature Disease associations Leber Optic Atrophy Parkinsonism OMIM 516006 Tags mtDNA
Red Red List (low evidence)	MT-RNR2 Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 2 red	MITOCHONDRIAL	Sources Expert Review Red Expert Review Literature Literature Expert Review Disease associations mitochondrial disease MONDO:0044970, MT-RNR2-related Tags
Red Red List (low evidence)	MT-RNR2 Mitochondrial disease v2.12	2 reviews 2 red	MITOCHONDRIAL	Sources Expert Review Red Literature Expert Review Disease associations mitochondrial disease MONDO:0044970, MT-RNR2-related Tags
Red Red List (low evidence)	MTPAP Hereditary Spastic Paraplegia v2.111	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Disease associations ?Spastic ataxia 4, autosomal recessive, 613672 Ataxia, spastic, 4 Spastic ataxia 4, autosomal recessive Tags
Red Red List (low evidence)	MYCBP2 Genetic Epilepsy v2.60	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, MYCBP2-related corpus callosum abnormalities Tags
Red Red List (low evidence)	MYH11 Cerebral vascular malformations v2.0	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Genomics England PanelApp Disease associations Aortic aneurysm, familial thoracic 4, 132900 moyamoya-like angiopath Tags
Red Red List (low evidence)	MYH3 Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Disease associations paresthesia rhabdomyolysis Tags
Red Red List (low evidence)	NALCN Ataxia v2.272	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Disease associations congenital contractures of the limbs and face, hypotonia, and developmental delay, MONDO:0014556 Tags
Red Red List (low evidence)	NAMPT Hereditary Neuropathy v3.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Literature Disease associations hereditary motor and sensory neuropathy MONDO:0015358 Tags
Red Red List (low evidence)	NAT8L Miscellaneous Metabolic Disorders v2.3	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations N-acetylaspartate deficiency - MIM#614063 Tags
Red Red List (low evidence)	NAT8L Genetic Epilepsy v2.60	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations N-acetylaspartate deficiency - MIM#614063 Tags
Red Red List (low evidence)	NDP Genetic Epilepsy v2.60	2 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Norrie disease, MIM#310600 Tags
Red Red List (low evidence)	NDUFA10 Genetic Epilepsy v2.60	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Mitochondrial complex I deficiency, nuclear type 22 - MIM#618243 Tags
Red Red List (low evidence)	NDUFA11 Genetic Epilepsy v2.60	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Mitochondrial complex I deficiency, nuclear type 14, MIM#618236 Tags
Red Red List (low evidence)	NDUFA6 Genetic Epilepsy v2.60	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Mitochondrial complex I deficiency, nuclear type 33, MIM#618253 Tags
Red Red List (low evidence)	NDUFAF7 Mitochondrial disease v2.12	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS Disease associations Pathologic myopia Tags
Red Red List (low evidence)	NEFH Motor Neurone Disease v2.29	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red ClinGen Disease associations amyotrophic lateral sclerosis MONDO:0004976 Tags
Red Red List (low evidence)	NEFM Ataxia v2.272	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Literature Disease associations Cerebellar ataxia, MONDO:0000437 Tags
Red Red List (low evidence)	NGLY1 Ataxia v2.272	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Disease associations congenital disorder of deglycosylation 1, MONDO:0800044 Tags
Red Red List (low evidence)	NIPA1_ALS_GCG STR Motor Neurone Disease v2.29	2 reviews 1 green 1 red	Unknown	Sources Expert Review Red Literature Literature Disease associations Amyotrophic lateral sclerosis Tags adult-onset
Red Red List (low evidence)	NME3 Mitochondrial disease v2.12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations Hypotonia Neurodegeneration Abnormal mitochondrial dynamics Tags
Red Red List (low evidence)	NOL10 Genetic Epilepsy v2.60	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Literature Disease associations NOL10-related neurological disorder MONDO:0100545 Tags
Red Red List (low evidence)	NOL3 Ataxia v2.272	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Royal Melbourne Hospital Expert Review Red Expert Review Red Royal Melbourne Hospital Disease associations Myoclonus, familial cortical Tags
Red Red List (low evidence)	NR4A2 Early-onset Dementia v2.14	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	NRG1 Hereditary Neuropathy v3.0	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Expert Review Expert Review Disease associations Peripheral neuropathy MONDO:0005244 Tags
Red Red List (low evidence)	NUP62 Mitochondrial disease v2.12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red ClinGen Disease associations Leigh syndrome, MONDO:0009723 Tags disputed
Red Red List (low evidence)	NUS1 Congenital Disorders of Glycosylation v2.2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type 1aa, MIM#610463 Tags
Red Red List (low evidence)	OCLN Leukodystrophy v1.12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Disease associations Pseudo-TORCH syndrome 1 251290 Tags
Red Red List (low evidence)	OCRL Leukodystrophy v1.12	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Royal Melbourne Hospital Expert Review Red Disease associations Lowe syndrome, 309000 Tags
Red Red List (low evidence)	OCRL Genetic Epilepsy v2.60	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Disease associations Lowe syndrome MIM#309000 Tags
Red Red List (low evidence)	ODC1 Genetic Epilepsy v2.60	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Expert Review Green Literature Disease associations Bachmann-Bupp syndrome 619075 Tags
Red Red List (low evidence)	OGT Genetic Epilepsy v2.60	3 reviews 1 green 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Expert Review Green Victorian Clinical Genetics Services Disease associations Intellectual developmental disorder, X-linked 106 MIM#300997 Tags
Red Red List (low evidence)	OPA3 Early-onset Parkinson disease v3.33	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	OSTC Genetic Epilepsy v2.60	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Oligosaccharyltransferase complex-congenital disorders of glycosylation Tags
Red Red List (low evidence)	OSTC Congenital Disorders of Glycosylation v2.2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Oligosaccharyltransferase complex-congenital disorders of glycosylation Tags
Red Red List (low evidence)	PANK2 Genetic Epilepsy v2.60	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Neurodegeneration with brain iron accumulation 1 MIM#234200 Tags
Red Red List (low evidence)	PAPSS2 Congenital Disorders of Glycosylation v2.2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Brachyolmia 4 with mild epiphyseal and metaphyseal changes MIM#612847 Tags
Red Red List (low evidence)	PAX6 Ataxia v2.272	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Disease associations Aniridia, 106210 Aniridia, Cerebellar Ataxia, And Mental Retardation Tags
Red Red List (low evidence)	PCLO Genetic Epilepsy v2.60	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Pontocerebellar hypoplasia, type 3, MIM#608027 Tags
Red Red List (low evidence)	PCP4 Motor Neurone Disease v2.29	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Literature Disease associations Familial amyotrophic lateral sclerosis, MONDO:0005144, PCP4-related Tags
Red Red List (low evidence)	PCYT2 Ataxia v2.272	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Disease associations global developmental delay regression spastic parapesis or tetraparesis epilepsy progressive cerebral and cerebellar atrophy Tags
Red Red List (low evidence)	PDGFRB Dystonia and Chorea v1.13	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Royal Melbourne Hospital Disease associations Basal ganglia calcification, idiopathic, 4, MIM# 615007 Tags
Red Red List (low evidence)	PET117 Mitochondrial disease v2.12	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Disease associations Mitochondrial complex IV deficiency, nuclear type 19, MIM#619063 Developmental delay Tags
Red Red List (low evidence)	PEX7 Hereditary Neuropathy v3.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Disease associations Refsum disease Phytanic acid storage disease Tags
Red Red List (low evidence)	PGAP1 Hereditary Spastic Paraplegia v2.111	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Disease associations Mental retardation, autosomal recessive 42 Tags
Red Red List (low evidence)	PHGDH Leukodystrophy v1.12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Disease associations Neu-Laxova syndrome 1 256520 Phosphoglycerate dehydrogenase deficiency 601815 Tags
Red Red List (low evidence)	PHKB Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Royal Melbourne Hospital Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750 Tags
Red Red List (low evidence)	PIGF Genetic Epilepsy v2.60	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, MIM#619356 Tags
Red Red List (low evidence)	PIGF Congenital Disorders of Glycosylation v2.2	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, MIM# 619356 Tags
Red Red List (low evidence)	PIK3R5 Ataxia v2.272	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Red Literature Victorian Clinical Genetics Services Disease associations Ataxia-oculomotor apraxia 3, OMIM #615217 Tags disputed
Red Red List (low evidence)	PLEKHG5 Motor Neurone Disease v2.29	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Spinal muscular atrophy, distal, autosomal recessive, 4, MIM# 611067 Tags
Red Red List (low evidence)	PLEKHN1 Pain syndromes v1.0	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Hereditary sensory and autonomic neuropathy, MONDO:0015364, PLEKHN1-related Tags
Red Red List (low evidence)	PLP1 Dystonia and Chorea v1.13	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Expert list Disease associations Pelizaeus-Merzbacher disease MIM#312080 Tags
Red Red List (low evidence)	PLXNA1 Brain Calcification v3.0	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations Dworschak-Punetha neurodevelopmental syndrome, MIM# 619955 Tags
Red Red List (low evidence)	PLXNC1 Genetic Epilepsy v2.60	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Malformations of cortical development Tags
Red Red List (low evidence)	PNPLA4 Mitochondrial disease v2.12	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Mitochondrial disease (MONDO:0044970), PNPLA4-related Tags
Red Red List (low evidence)	PODXL Dystonia and Chorea v1.13	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Expert list Disease associations juvenile-onset Parkinson disease Tags
Red Red List (low evidence)	PODXL Early-onset Parkinson disease v3.33	1 review	Unknown	Sources Literature Disease associations juvenile-onset Parkinson disease Tags
Red Red List (low evidence)	POGLUT1 Congenital Disorders of Glycosylation v2.2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Muscular dystrophy, limb-girdle, autosomal recessive 21 (MIM# 617232), Dowling-Degos disease 4 (MIM# 615696) Tags
Red Red List (low evidence)	POLR3D Leukodystrophy v1.12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Leukodystrophy, MONDO:0019046, POLR3D-related Tags
Red Red List (low evidence)	PPA1 Miscellaneous Metabolic Disorders v2.3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Galactosaemia, MONDO:0018116 Tags
Red Red List (low evidence)	PPARG Fatty Acid Oxidation Defects v2.0	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	PPIA Early-onset Dementia v2.14	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations amyotrophic lateral sclerosis, MONDO:0004976, PPIA-associated Tags
Red Red List (low evidence)	PRDM8 Genetic Epilepsy v2.60	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations ?Epilepsy, progressive myoclonic, 10 MIM#616640 Tags
Red Red List (low evidence)	PREX1 Genetic Epilepsy v2.60	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Literature Disease associations Neurodevelopmental disorder (MONDO:0700092), PREX1-related Tags
Red Red List (low evidence)	PRF1 Leukodystrophy v1.12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Disease associations Hemophagocytic lymphohistiocytosis, familial, 2 603553 Tags
Red Red List (low evidence)	PRICKLE1 Genetic Epilepsy v2.60	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Disease associations Epilepsy, progressive myoclonic 1B, MIM# 612437 Tags disputed
Red Red List (low evidence)	PRICKLE1 Ataxia v2.272	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Disease associations Progressive myoclonic epilepsy 1B, 612437 Progressive Myoclonus Epilepsy with Ataxia Tags disputed
Red Red List (low evidence)	PRIMA1 Genetic Epilepsy v2.60	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Frontal Lobe Epilepsy MONDO:0002612 Tags
Red Red List (low evidence)	PRKCH Early-onset Dementia v2.14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Alzheimer disease, MONDO:0004975, PRKCH-related Tags
Red Red List (low evidence)	PSAT1 Leukodystrophy v1.12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Disease associations Neu-Laxova syndrome 2 616038 ?Phosphoserine aminotransferase deficiency 610992 Tags
Red Red List (low evidence)	PSEN1 Neurodegeneration with brain iron accumulation v2.0	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Neurodegeneration with brain iron accumulation Frontotemporal dementia, MIM# 600274 Tags
Red Red List (low evidence)	PSEN2 Early-onset Parkinson disease v3.33	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Other Disease associations Parkinsonism Alzheimer disease-4 MIM#606889 Tags
Red Red List (low evidence)	PSMB8 Brain Calcification v3.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations Proteasome-associated autoinflammatory syndrome 1 and digenic forms, MIM# 256040 Tags
Red Red List (low evidence)	PSMG2 Brain Calcification v3.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations Proteasome-associated autoinflammatory syndrome 4, MIM# 619183 Tags
Red Red List (low evidence)	PTBP1 Genetic Epilepsy v2.60	1 review 1 red	Unknown	Sources Expert Review Red Literature Tags
Red Red List (low evidence)	PTCD1 Mitochondrial disease v2.12	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Red NHS GMS NHS GMS Disease associations Cardiomyopathy MONDO:0004994, PTCD1-related Tags
Red Red List (low evidence)	PTCH1 Genetic Epilepsy v2.60	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Holoprosencephaly 7, MIM# 610828 Tags
Red Red List (low evidence)	PTH Brain Calcification v3.0	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations Hypoparathyroidism, familial isolated 1, MIM# 146200 Tags
Red Red List (low evidence)	PTS Brain Calcification v3.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640 Tags
Red Red List (low evidence)	PYROXD2 Mitochondrial disease v2.12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Mitochondrial disease, MONDO:0044970 Tags disputed
Red Red List (low evidence)	QDPR Brain Calcification v3.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations Dihydropteridine Reductase (DHPR) Deficiency, MIM* 612676 Tags
Red Red List (low evidence)	RAB11A Genetic Epilepsy v2.60	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Intellectual disability seizures Tags
Red Red List (low evidence)	RAB39B Brain Calcification v3.0	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Expert list Disease associations Intellectual developmental disorder, X-linked 72, MIM# 300271 Tags
Red Red List (low evidence)	RAI1_FAME8_TTTCA STR Genetic Epilepsy v2.60	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Literature Disease associations benign adult familial myoclonic epilepsy MONDO:0019448 Tags
Red Red List (low evidence)	RAPGEF2 Motor Neurone Disease v2.29	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder, MONDO:0700092 amyotrophic lateral sclerosis MONDO:0004976 Tags STR
Red Red List (low evidence)	RAPGEF2 Genetic Epilepsy v2.60	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations ?Epilepsy, familial adult myoclonic, 7 MIM# 618075 Tags STR
Red Red List (low evidence)	RBM7 Hereditary Neuropathy v3.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Expert list Disease associations SMA-like spinal motor neuropathy dHMN/dSMA Tags
Red Red List (low evidence)	RELN Dystonia and Chorea v1.13	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Other Expert Review Red Expert Review Red Other Disease associations Myoclonus-dystonia syndrome MONDO:0000903 Tags
Red Red List (low evidence)	REPS1 Neurodegeneration with brain iron accumulation v2.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Neurodegeneration with brain iron accumulation 7 , MIM# 617916 Tags
Red Red List (low evidence)	RIC3 Early-onset Parkinson disease v3.33	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Other Disease associations Parkinson disease Tags
Red Red List (low evidence)	RNASEH2A Dystonia and Chorea v1.13	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations Aicardi-Goutieres syndrome 4 MIM#610333 Tags
Red Red List (low evidence)	RNF43 Metal Metabolism Disorders v1.1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Hereditary haemochromatosis, MONDO:0006507, RNF43-related Tags founder
Red Red List (low evidence)	RPS6KA3 Leukodystrophy v1.12	1 review 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Royal Melbourne Hospital Expert Review Red Royal Melbourne Hospital Disease associations Coffin-Lowry syndrome, 303600 Tags
Red Red List (low evidence)	RXYLT1 Genetic Epilepsy v2.60	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 MIM#615041 Tags
Red Red List (low evidence)	SAMD12_FAME1_TTTGA STR Genetic Epilepsy v2.60	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Literature Disease associations familial cortical myoclonic tremor with epilepsy Tags
Red Red List (low evidence)	SAR1B Ataxia v2.272	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Disease associations Chylomicron retention disease, 246700 Tags
Red Red List (low evidence)	SARS2 Hereditary Spastic Paraplegia v2.111	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Progressive spastic paraplegia Tags
Red Red List (low evidence)	SCN9A Genetic Epilepsy v2.60	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations {Dravet syndrome, modifier of} MIM#607208 Epilepsy, generalized, with febrile seizures plus, type 7 MIM#613863 Febrile seizures, familial, 3B MIM#613863 Tags refuted
Red Red List (low evidence)	SCP2 Leukodystrophy v1.12	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Disease associations Leukoencephalopathy with dystonia and motor neuropathy 613724 Tags
Red Red List (low evidence)	SDHAF2 Mitochondrial disease v2.12	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Disease associations Paragangliomas 2, MIM# 601650 Tags
Red Red List (low evidence)	SDHC Mitochondrial disease v2.12	1 review 1 red	Unknown	Sources Expert Review Red Disease associations Mitochondrial disease MONDO:0044970 Tags
Red Red List (low evidence)	SEC23A Congenital Disorders of Glycosylation v2.2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Craniolenticulosutural dysplasia (MIM# 607812) Tags
Red Red List (low evidence)	SEC24C Genetic Epilepsy v2.60	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, SEC24C-related Tags
Red Red List (low evidence)	SETX Early-onset Dementia v2.14	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	SH3BP4 Hereditary Neuropathy v3.0	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Royal Melbourne Hospital Royal Melbourne Hospital Disease associations Inherited peripheral neuropathy, MONDO:0020127, SH3BP4-related Tags
Red Red List (low evidence)	SLC16A13 Mitochondrial disease v2.12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Literature Disease associations Lactic acidosis MONDO:0006040, SLC16A13-related Tags
Red Red List (low evidence)	SLC19A3 Hereditary Spastic Paraplegia v2.111	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Disease associations Biotin-thiamine-responsive basal ganglia disease, MIM#607483 Tags
Red Red List (low evidence)	SLC22A5 Genetic Epilepsy v2.60	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Intractable epilepsy Tags
Red Red List (low evidence)	SLC25A1 Leukodystrophy v1.12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Disease associations Combined D-2- and L-2-hydroxyglutaric aciduria 615182 Tags
Red Red List (low evidence)	SLC25A22 Neurotransmitter Defects v2.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Epileptic encephalopathy, early infantile, 3, MIM# 609304 Tags
Red Red List (low evidence)	SLC27A3 Neurodegeneration with brain iron accumulation v2.0	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Literature Disease associations Inherited neurodegenerative disorder, MONDO:0024237, SLC27A3-related Tags
Red Red List (low evidence)	SLC27A3 Ataxia v2.272	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Literature Disease associations Inherited neurodegenerative disorder, MONDO:0024237, SLC27A3-related Tags
Red Red List (low evidence)	SLC27A5 Miscellaneous Metabolic Disorders v2.3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Bile acid-CoA ligase deficiency Disorders of bile acid biosynthesis Tags
Red Red List (low evidence)	SLC33A1 Hereditary Spastic Paraplegia v2.111	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Disease associations Spastic paraplegia 42, autosomal dominant, MIM# 612539 Tags
Red Red List (low evidence)	SLC52A1 Motor Neurone Disease v2.29	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert Review Red Expert list Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Riboflavin deficiency, MIM#615026 Tags
Red Red List (low evidence)	SLC7A6OS Genetic Epilepsy v2.60	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Epilepsy, progressive myoclonic, 12, MIM# 619191 Progressive myoclonus epilepsy Tags
Red Red List (low evidence)	SLIRP Mitochondrial disease v2.12	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Mitochondrial encephalomyopathy with complex I and IV deficiency Tags
Red Red List (low evidence)	SMARCA4 Genetic Epilepsy v2.60	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Red Literature Victorian Clinical Genetics Services Disease associations Refractory seizures Tags
Red Red List (low evidence)	SMARCE1 Genetic Epilepsy v2.60	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Disease associations Coffin-Siris syndrome 5 MIM#616938 Tags
Red Red List (low evidence)	SMPDL3A Pain syndromes v1.0	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Sensory Neuropathy MONDO:0002321, SMPDL3A-related Tags
Red Red List (low evidence)	SNCB Early-onset Dementia v2.14	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Dementia, Lewy body, MIM#127750 Tags disputed
Red Red List (low evidence)	SOD1 Early-onset Dementia v2.14	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	SORBS2 Early-onset Dementia v2.14	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Literature Disease associations familial Alzheimer disease MONDO:0100087, SORBS2-related Tags
Red Red List (low evidence)	SORCS2 Genetic Epilepsy v2.60	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, SORCS2-related Tags
Red Red List (low evidence)	SOX11 Genetic Epilepsy v2.60	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Disease associations Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism MIM#615866 Tags
Red Red List (low evidence)	SPART Early-onset Dementia v2.14	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	SPG7 Hereditary Neuropathy v3.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations hereditary spastic paraplegia 7, MONDO:0011803 Tags
Red Red List (low evidence)	SQSTM1 Neurodegeneration with brain iron accumulation v2.0	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations ataxia dystonia gaze palsy neuroregression cognitive decline childhood dementia Tags
Red Red List (low evidence)	SRPX2 Genetic Epilepsy v2.60	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red ClinGen Disease associations Epilepsy, MONDO:0005027 Tags refuted
Red Red List (low evidence)	STAT3 Genetic Epilepsy v2.60	1 review 1 red	Unknown	Sources Expert Review Red Literature Tags
Red Red List (low evidence)	STEAP3 Metal Metabolism Disorders v1.1	2 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red NHS Genomic Medicine Service Genomics England PanelApp Disease associations Severe congenital hypochromic anemia with ringed sideroblasts, MONDO:0014094 Tags disputed
Red Red List (low evidence)	STT3B Congenital Disorders of Glycosylation v2.2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type Ix 615597 Tags
Red Red List (low evidence)	STX11 Leukodystrophy v1.12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Disease associations Hemophagocytic lymphohistiocytosis, familial, 4 603552 Tags
Red Red List (low evidence)	STXBP1 Hereditary Spastic Paraplegia v2.111	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Royal Melbourne Hospital Disease associations Spasticity Early infantile epileptic encephalopathy 4 Tags
Red Red List (low evidence)	STXBP2 Leukodystrophy v1.12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Expert list Disease associations Hemophagocytic lymphohistiocytosis, familial, 5 613101 Tags
Red Red List (low evidence)	SUCLG2 Mitochondrial disease v2.12	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Disease associations Mitochondrial disease, MONDO:0044970 Tags
Red Red List (low evidence)	SUMF1 Genetic Epilepsy v2.60	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Multiple sulfatase deficiency MIM#272200 Tags
Red Red List (low evidence)	SV2B Genetic Epilepsy v2.60	2 reviews 2 red	Unknown	Sources Expert Review Red Literature Disease associations seizures Tags
Red Red List (low evidence)	SYNE1 Genetic Epilepsy v2.60	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder, MONDO:0700092 Tags
Red Red List (low evidence)	SYT14 Ataxia v2.272	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Red GeneReviews Royal Melbourne Hospital Expert Review Red Expert Review Red Victorian Clinical Genetics Services Disease associations ?Spinocerebellarataxia,autosomalrecessive11,614229 Tags
Red Red List (low evidence)	TAOK1 Genetic Epilepsy v2.60	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Disease associations Developmental delay with or without intellectual impairment or behavioral abnormalities MIM#619575 Tags
Red Red List (low evidence)	TBC1D20 Brain Calcification v3.0	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations Warburg micro syndrome 4, MIM# 615663 Tags
Red Red List (low evidence)	TBC1D7 Genetic Epilepsy v2.60	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Macrocephaly/megalencephaly syndrome, autosomal recessive MIM#248000 Tags
Red Red List (low evidence)	TDO2 Miscellaneous Metabolic Disorders v2.3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Hypertryptophanemia MIM#600627 Disorders of histidine, tryptophan or lysine metabolism Tags
Red Red List (low evidence)	TET2 Early-onset Dementia v2.14	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Dementia Tags
Red Red List (low evidence)	TGIF1 Genetic Epilepsy v2.60	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Disease associations Holoprosencephaly 4 MIM#142946 Tags
Red Red List (low evidence)	TGM6 Ataxia v2.272	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Royal Melbourne Hospital Expert Review Red Expert Review Red Expert Review Red Expert Review Red Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Spinocerebellar ataxia 35, 613908 Spinocerebellar ataxia 35 Tags refuted
Red Red List (low evidence)	TH Early-onset Dementia v2.14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Segawa syndrome, recessive MIM#605407 Tags
Red Red List (low evidence)	THAP12 Genetic Epilepsy v2.60	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Other Other Disease associations Neurodevelopmental disorder, MONDO:0700092, THAP12-related Tags
Red Red List (low evidence)	TIMM29 Mitochondrial disease v2.12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Sengers syndrome MONDO:0008922, TIMM29-related Tags
Red Red List (low evidence)	TMEM230 Early-onset Parkinson disease v3.33	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Disease associations Parkinson disease 21, MIM#616361 Tags
Red Red List (low evidence)	TNRC6A Genetic Epilepsy v2.60	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Disease associations Epilepsy, familial adult myoclonic, 6 MIM#618074 Tags
Red Red List (low evidence)	TNRC6A_FAME6_TTTCA STR Genetic Epilepsy v2.60	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Literature Disease associations Epilepsy, familial adult myoclonic, 6 MIM#618074 Tags adult-onset
Red Red List (low evidence)	TOR1AIP1 Dystonia and Chorea v1.13	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Disease associations Dystonia, cerebellar atrophy, and cardiomyopathy Tags
Red Red List (low evidence)	TPP1 Hereditary Spastic Paraplegia v2.111	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Disease associations Ceroid lipofuscinosis neuronal 2, MIM#204500 Tags
Red Red List (low evidence)	TPR Ataxia v2.272	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Intellectual developmental disorder, autosomal recessive 79, MIM# 620393 Tags
Red Red List (low evidence)	TRAPPC2L Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Literature Disease associations Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, 618331 Tags founder
Red Red List (low evidence)	TRAPPC2L Genetic Epilepsy v2.60	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Literature Disease associations Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, 618331 Tags founder
Red Red List (low evidence)	TRIM32 Ataxia v2.272	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Muscular dystrophy, limb-girdle, autosomal recessive 8, 254110 ?Bardet-Biedl syndrome 11, 615988 Tags
Red Red List (low evidence)	TRIM72 Limb-Girdle Muscular Dystrophy and Distal Myopathy v2.12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Limb girdle muscular dystrophy MONDO:0016971, TRIM72-related Tags
Red Red List (low evidence)	TRIP11 Congenital Disorders of Glycosylation v2.2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	TRIP4 Motor Neurone Disease v2.29	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866 Tags
Red Red List (low evidence)	TRMT1L Leukodystrophy v1.12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, TRMT1L-related Tags
Red Red List (low evidence)	TRMT1L Hereditary Neuropathy v3.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, TRMT1L-related Tags
Red Red List (low evidence)	TRPA1 Hereditary Neuropathy v3.0	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Royal Melbourne Hospital Disease associations Episodic pain syndrome, familial, 1, MIM# 615040 Tags
Red Red List (low evidence)	TRPC3 Genetic Epilepsy v2.60	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Expert list Expert Review Amber Expert list Disease associations ?Spinocerebellar ataxia 41 - 616410 Tags
Red Red List (low evidence)	TRPM6 Brain Calcification v3.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations Hypomagnesemia 1, intestinal, MIM# 602014 Tags
Red Red List (low evidence)	TRPV1 Pain syndromes v1.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Channelopathy-associated congenital insensitivity to pain, autosomal recessive - MONDO:0009459 Tags
Red Red List (low evidence)	TRPV4 Motor Neurone Disease v2.29	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Spinal muscular atrophy, distal, congenital nonprogressive, 600175 Tags
Red Red List (low evidence)	TSEN2 Ataxia v2.272	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Expert list Victorian Clinical Genetics Services Disease associations Pontocerebellar hypoplasia type 2B, 612389 Tags
Red Red List (low evidence)	TSEN34 Ataxia v2.272	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Expert list Victorian Clinical Genetics Services Disease associations ?Pontocerebellar hypoplasia type 2C, 612390 Tags
Red Red List (low evidence)	TSEN34 Genetic Epilepsy v2.60	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Pontocerebellar hypoplasia type 2C, MIM#612390 Tags
Red Red List (low evidence)	TSEN54 Ataxia v2.272	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Expert list Expert list Expert Review Red Expert list Disease associations adult-onset cerebellar ataxia Tags
Red Red List (low evidence)	TSEN54 Rhabdomyolysis and Metabolic Myopathy v2.0	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Green Royal Melbourne Hospital Expert list Victorian Clinical Genetics Services Disease associations ?Pontocerebellar hypoplasia type 5 610204 Pontocerebellar hypoplasia type 4 225753 Pontocerebellar hypoplasia type 2A 277470 Tags
Red Red List (low evidence)	TTC14 Genetic Epilepsy v2.60	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, TTC14-related Tags
Red Red List (low evidence)	TTC8 Ataxia v2.272	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 8, 615985 Tags
Red Red List (low evidence)	TTN Rhabdomyolysis and Metabolic Myopathy v2.0	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert Review Expert list Disease associations Congenital titinopathy exercise intolerance Tags
Red Red List (low evidence)	TTR Hereditary Spastic Paraplegia v2.111	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Royal Melbourne Hospital Disease associations Amyloidosis, hereditary, transthyretin-related, MIM# 105210 Tags
Red Red List (low evidence)	TUBA1A Ataxia v2.272	3 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Red Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Lissencephaly 3, 611603 Tags
Red Red List (low evidence)	TUBA8 Genetic Epilepsy v2.60	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Disease associations Cortical dysplasia, complex, with other brain malformations 8, MIM#613180 Tags disputed
Red Red List (low evidence)	TUBB4A Early-onset Parkinson disease v3.33	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	TYMP Rhabdomyolysis and Metabolic Myopathy v2.0	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073 Tags
Red Red List (low evidence)	U2AF2 Leukodystrophy v1.12	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Disease associations Developmental delay, dysmorphic facies, and brain anomalies, MIM# 620535 Tags
Red Red List (low evidence)	UBA1 Motor Neurone Disease v2.29	2 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Expert Review Green Expert list Royal Melbourne Hospital Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Spinal muscular atrophy, X-linked 2, infantile, MIM# 301830 Tags
Red Red List (low evidence)	UCHL1 Early-onset Dementia v2.14	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	UNC13B Genetic Epilepsy v2.60	2 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Expert list Disease associations Epilepsy Tags
Red Red List (low evidence)	UNC13D Leukodystrophy v1.12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Expert list Disease associations Hemophagocytic lymphohistiocytosis, familial, 3 608898 Tags
Red Red List (low evidence)	UNC80 Dystonia and Chorea v1.13	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801 MONDO:0014777 Tags
Red Red List (low evidence)	USP25 Genetic Epilepsy v2.60	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations {Epilepsy, idiopathic generalized, susceptibility to, 19} MIM#621064 Tags disputed
Red Red List (low evidence)	VAPB Early-onset Dementia v2.14	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Amyotrophic lateral sclerosis 8 MIM#608627 Spinal muscular atrophy, late-onset, Finkel type MIM#182980 Tags
Red Red List (low evidence)	VARS2 Brain Calcification v3.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations Combined oxidative phosphorylation deficiency 20, MIM# 615917 Tags
Red Red List (low evidence)	VPS11 Dystonia and Chorea v1.13	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Red Expert Review Red Literature Disease associations Dystonia 32, MIM# 619637 Dystonia, adult-onset Tags
Red Red List (low evidence)	VPS37A Dystonia and Chorea v1.13	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations Spastic paraplegia 53, autosomal recessive MIM#614898 Tags
Red Red List (low evidence)	WASHC4 Genetic Epilepsy v2.60	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Intellectual developmental disorder, autosomal recessive 43 MIM#615817 Tags
Red Red List (low evidence)	WASL Early-onset Parkinson disease v3.33	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Parkinson's disease, MONDO:0005180, WASL-related Tags
Red Red List (low evidence)	WDFY3 Genetic Epilepsy v2.60	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Disease associations Microcephaly 18, primary, autosomal dominant MIM#617520 Tags
Red Red List (low evidence)	WDPCP Ataxia v2.272	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Disease associations ?Bardet-Biedl syndrome 15, 615992 ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 Tags
Red Red List (low evidence)	WDR48 Hereditary Spastic Paraplegia v2.111	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Disease associations Spastic paraplegia Tags
Red Red List (low evidence)	XPNPEP3 Mitochondrial disease v2.12	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature NHS GMS Disease associations Nephronophthisis-like nephropathy 1 MIM#613159 Tags
Red Red List (low evidence)	YEATS2 Genetic Epilepsy v2.60	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Disease associations ?Epilepsy, myoclonic, familial adult, 4 MIM#615127 Tags STR
Red Red List (low evidence)	YEATS2_FAME4_TTTCA STR Genetic Epilepsy v2.60	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Literature Disease associations Epilepsy, myoclonic, familial adult, 4 MIM#615127 Tags adult-onset
Red Red List (low evidence)	ZDHHC15 Genetic Epilepsy v2.60	3 reviews 3 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Literature Expert list Expert Review Red Victorian Clinical Genetics Services Disease associations Intellectual disability, X-linked 91, 300577 Tags disputed
Red Red List (low evidence)	ZFHX2 Pain syndromes v1.0	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Literature Disease associations congenital insensitivity to pain syndrome, Marsili type MONDO:0958106 Tags
Red Red List (low evidence)	ZFR Hereditary Spastic Paraplegia v2.111	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Disease associations Complicated hereditary spastic paraplegia Tags
Red Red List (low evidence)	ZFYVE27 Hereditary Spastic Paraplegia v2.111	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Royal Melbourne Hospital Expert Review Red Royal Melbourne Hospital Disease associations Spastic paraplegia 33, autosomal dominant, MIM#610244 Tags disputed
Red Red List (low evidence)	ZIC2 Genetic Epilepsy v2.60	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Disease associations Holoprosencephaly 5 MIM#609637 Tags
Red Red List (low evidence)	ZNF319 Leukodystrophy v1.12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Red Expert Review Red Literature Disease associations Leukodystrophy, MONDO:0019046, ZNF319-related Tags
Red Red List (low evidence)	ZNF423 Ataxia v2.272	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Red Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Nephronophthisis 14 Tags
Red Red List (low evidence)	ZNF592 Ataxia v2.272	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Disease associations Spinocerebellar ataxia, autosomal recessive 5 Galloway-Mowat Syndrome 1, 251300 Tags
No list No list	ATN1 Early-onset Dementia v2.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Expert list Disease associations Dentatorubral-pallidoluysian atrophy MIM#125370 Tags STR
No list No list	ATXN2 Early-onset Parkinson disease v3.33	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed Literature Disease associations Spinocerebellar Ataxia 2 Parkinsonism Myoclonus OMIM 183090 Tags STR
No list No list	ATXN3 Early-onset Parkinson disease v3.33	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed Literature Disease associations Spinocerebellar 3 Machado Joseph disease Ataxia Parkinsonism OMIM 109150 Tags STR
No list No list	ATXN8 Early-onset Parkinson disease v3.33	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed Literature Disease associations Spinocerebellar 8 Parkinsonism OMIM 608768 Tags STR
No list No list	C9orf72 Early-onset Parkinson disease v3.33	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550 Tags STR
No list No list	C9orf72 Dystonia and Chorea v1.13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Expert list Disease associations Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, MIM# 105550 Tags STR
No list No list	C9orf72 Early-onset Dementia v2.14	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Expert list Disease associations Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550 Tags STR
No list No list	FMR1 Early-onset Parkinson disease v3.33	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Removed Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Fragile X tremor/ataxia syndrome MIM#300623 Tags STR
No list No list	HTT Early-onset Parkinson disease v3.33	1 review 1 green	Unknown	Sources Expert Review Removed Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Tags STR
No list No list	JPH3 Early-onset Parkinson disease v3.33	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed Literature Disease associations Huntington Disease Like 2 (HDL2) Parkinsonism Severe Dementia OMIM 606438 Tags STR
No list No list	PPP2R2B Early-onset Parkinson disease v3.33	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed Literature Disease associations Spinocerebellar ataxia 12 Parkinsonism OMIM 604326 Tags STR
No list No list	STARD7 Genetic Epilepsy v2.60	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Literature Disease associations Epilepsy, familial adult myoclonic, 2, 607876 Tags STR
No list No list	TAF1 Early-onset Parkinson disease v3.33	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Removed Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Disease associations Dystonia-Parkinsonism, X-linked, MIM# 314250 Tags deep intronic founder STR
No list No list	TBP Early-onset Parkinson disease v3.33	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed Literature Disease associations Spinocerebellar Ataxia 17 Parkinsonism Chorea Seizures Psychosis Dementia OMIM 607136 Tags STR

Progressive Neurological Conditions (Version 22.267)

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