Metabolic Disorders Superpanel (Version 9.79)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 1437 Entitiess
Green Green List (high evidence)	A4GALT Congenital Disorders of Glycosylation v1.82	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes A4GALT-congenital disorder of glycosylation MONDO:0100587 Tags
Green Green List (high evidence)	AARS2 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 8 MIM#614096 Leukoencephalopathy, progressive, with ovarian failure MIM#615889 MONDO:0013570 Tags
Green Green List (high evidence)	AASS Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes hyperlysinemia MONDO:0009388 Tags
Green Green List (high evidence)	ABAT Neurotransmitter Defects v1.8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes GABA-transaminase deficiency, MIM# 613163 Tags
Green Green List (high evidence)	ABAT Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes mtDNA depletion syndrome (MDS) Tags
Green Green List (high evidence)	ABCA1 Dyslipidaemia v0.47	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Tangier disease, MIM# 205400 HDL deficiency, familial, 1, MIM# 604091 Tags
Green Green List (high evidence)	ABCB11 Miscellaneous Metabolic Disorders v1.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Cholestasis, progressive familial intrahepatic 2 MIM#601847 disorder of bile acid metabolism Tags
Green Green List (high evidence)	ABCB11 Haem degradation and bilirubin metabolism defects v0.19	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes progressive familial intrahepatic cholestasis type 2 MONDO:0011156 Disorders of bile acid metabolism Tags
Green Green List (high evidence)	ABCB4 Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Progressive familial intrahepatic cholestasis type 3, MONDO:0011214 Tags
Green Green List (high evidence)	ABCB4 Haem degradation and bilirubin metabolism defects v0.19	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of bile acid metabolism progressive familial intrahepatic cholestasis type 3 MONDO:0011214 Tags
Green Green List (high evidence)	ABCB7 Mitochondrial disease v1.14	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 Phenotypes Anaemia, sideroblastic, with ataxia, MIM# 301310 Tags
Green Green List (high evidence)	ABCB7 Metal Metabolism Disorders v0.52	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS Genomic Medicine Service Expert Review Green Genomics England PanelApp Phenotypes 301310 Anemia, sideroblastic, with ataxia Tags
Green Green List (high evidence)	ABCC2 Haem degradation and bilirubin metabolism defects v0.19	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of haem degradation and bilirubin metabolism Dubin-Johnson syndrome MONDO:0009380 Tags
Green Green List (high evidence)	ABCC6 Nucleotide metabolism disorders v0.8	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	ABCC8 Monogenic Diabetes v0.202	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Maturity-onset diabetes of the young, type 12, MIM# 621196 permanent neonatal diabetes mellitus MONDO:0100164 transient neonatal diabetes mellitus MONDO:0020525 Tags
Green Green List (high evidence)	ABCD1 Peroxisomal Disorders v0.61	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes adrenoleukodystrophy (MONDO:0018544) Tags
Green Green List (high evidence)	ABCD4 Vitamin metabolism disorders v1.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Methylmalonic aciduria and homocystinuria, cblJ type MIM#614857 disorder of vitamin B12 metabolism Tags
Green Green List (high evidence)	ABCG5 Dyslipidaemia v0.47	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Sitosterolaemia 2, MIM# 618666 Tags clinical trial treatable
Green Green List (high evidence)	ABCG8 Dyslipidaemia v0.47	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Sitosterolemia Tags
Green Green List (high evidence)	ABHD12 Miscellaneous Metabolic Disorders v1.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674 disorder of of endocannabinoid metabolism Tags
Green Green List (high evidence)	ABHD5 Miscellaneous Metabolic Disorders v1.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Chanarin-Dorfman syndrome MIM#275630 neutral lipid storage disease with ichthyosis lipid metabolism Tags
Green Green List (high evidence)	ACAD8 Aminoacidopathy v1.139	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes isobutyryl-CoA dehydrogenase deficiency MONDO:0012648 Tags
Green Green List (high evidence)	ACAD9 Fatty Acid Oxidation Defects v1.15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 20, MIM# 611126 Tags treatable
Green Green List (high evidence)	ACAD9 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 20 MIM#611126 Tags treatable
Green Green List (high evidence)	ACADM Fatty Acid Oxidation Defects v1.15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450 Tags treatable
Green Green List (high evidence)	ACADM Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Phenotypes Acyl-CoA dehydrogenase, medium chain, deficiency of MIM#201450 Tags treatable
Green Green List (high evidence)	ACADM Hyperammonaemia v0.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Acyl-CoA dehydrogenase, medium chain, deficiency of 201450 Tags treatable
Green Green List (high evidence)	ACADSB Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 2-methylbutyryl-CoA dehydrogenase deficiency MONDO:0012392 Tags
Green Green List (high evidence)	ACADSB Fatty Acid Oxidation Defects v1.15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes 2-methylbutyrylglycinuria MIM#610006 Tags
Green Green List (high evidence)	ACADSB Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature NHS GMS Phenotypes 2-methylbutyrylglycinuria MIM#610006 Tags
Green Green List (high evidence)	ACADVL Hyperammonaemia v0.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes VLCAD deficiency 201475 Tags treatable
Green Green List (high evidence)	ACADVL Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Phenotypes VLCAD deficiency MIM#201475 Tags treatable
Green Green List (high evidence)	ACADVL Fatty Acid Oxidation Defects v1.15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes VLCAD deficiency, MIM# 201475 Tags treatable
Green Green List (high evidence)	ACAT1 Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Phenotypes Alpha-methylacetoacetic aciduria MIM#203750 Tags treatable
Green Green List (high evidence)	ACAT1 Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes beta-ketothiolase deficiency MONDO:0008760 Tags treatable
Green Green List (high evidence)	ACAT1 Fatty Acid Oxidation Defects v1.15	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Alpha-methylacetoacetic aciduria, MIM#203750 Deficiency of acetyl-CoA acetyltransferase Beta-ketothiolase deficiency MONDO:0008760 Tags treatable
Green Green List (high evidence)	ACBD5 Peroxisomal Disorders v0.61	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinal dystrophy with leukodystrophy (MIM#618863) Tags
Green Green List (high evidence)	ACO2 Mitochondrial disease v1.14	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Infantile cerebellar-retinal degeneration, MIM#614559 Optic atrophy 9, MIM# 616289 Tags
Green Green List (high evidence)	ACOX1 Peroxisomal Disorders v0.61	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470 Tags
Green Green List (high evidence)	ACOX2 Peroxisomal Disorders v0.61	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Bile acid synthesis defect, congenital, 6, 617308 Tags
Green Green List (high evidence)	ACSF3 Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes combined malonic and methylmalonic acidemia MONDO:0013661 Tags
Green Green List (high evidence)	ACY1 Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes aminoacylase 1 deficiency MONDO:0012368 Tags
Green Green List (high evidence)	ACY1 Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Aminoacylase 1 deficiency MIM#609924 disorder of amino acid metabolism Tags
Green Green List (high evidence)	ADA Nucleotide metabolism disorders v0.8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Severe combined immunodeficiency due to ADA deficiency MIM#102700 Adenosine deaminase deficiency, partial MIM#102700 disorder of purine metabolism Tags
Green Green List (high evidence)	ADA Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes 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)	ADA2 Nucleotide metabolism disorders v0.8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Disorders of purine metabolism Deficiency of adenosine deaminase 2 MONDO:0100317 Tags
Green Green List (high evidence)	ADAR Nucleotide metabolism disorders v0.8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Disorders of ectonucleotide and nucleic acid metabolism Aicardi-Goutieres syndrome MONDO:0018866 Tags
Green Green List (high evidence)	ADK Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes adenosine kinase deficiency MONDO:0100255 Tags
Green Green List (high evidence)	ADSL Nucleotide metabolism disorders v0.8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes disorder of purine metabolism Adenylosuccinase deficiency MIM#103050 Tags
Green Green List (high evidence)	ADSL Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Adenylosuccinase deficiency MIM#103050 disorder of purine metabolism Tags
Green Green List (high evidence)	AFG3L2 Mitochondrial disease v1.14	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 Phenotypes Spastic ataxia 5, autosomal recessive (MIM#614487) Spinocerebellar ataxia 28 (MIM#610246) Optic atrophy 12, MIM# 618977 Tags
Green Green List (high evidence)	AGA Lysosomal Storage Disorder v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aspartylglucosaminuria, MIM# 208400 MONDO:0008830 Tags
Green Green List (high evidence)	AGA Aminoacidopathy v1.139	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes Canavan disease MONDO:0010079 Tags
Green Green List (high evidence)	AGK Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Sengers syndrome, MIM#212350 Cataract 38 MIM#614691 Tags
Green Green List (high evidence)	AGL Glycogen Storage Diseases v1.4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycogen storage disease IIIa and IIIb, MIM# 232400 Tags
Green Green List (high evidence)	AGPAT2 Monogenic Diabetes v0.202	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes congenital generalized lipodystrophy type 1 MONDO:0012071 Tags
Green Green List (high evidence)	AGPS Peroxisomal Disorders v0.61	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	AGXT Peroxisomal Disorders v0.61	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	AHCY Miscellaneous Metabolic Disorders v1.60	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 Phenotypes Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MIM#613752 disorder of methionine metabolism Tags treatable
Green Green List (high evidence)	AHCY Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MONDO:0013404 Tags
Green Green List (high evidence)	AICDA Nucleotide metabolism disorders v0.8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes hyper-IgM syndrome type 2 MONDO:0011528 Disorders of ectonucleotide and nucleic acid metabolism Tags
Green Green List (high evidence)	AIFM1 Mitochondrial disease v1.14	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 Phenotypes 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)	AIRE Monogenic Diabetes v0.202	1 review 1 green	BOTH monoallelic and 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 Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM#240300 Tags
Green Green List (high evidence)	AK1 Nucleotide metabolism disorders v0.8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes hemolytic anemia due to adenylate kinase deficiency MONDO:0012967 Disorders of purine metabolism Tags
Green Green List (high evidence)	AK2 Nucleotide metabolism disorders v0.8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes reticular dysgenesis MONDO:0009973 Disorders of purine metabolism Tags
Green Green List (high evidence)	AKR1D1 Miscellaneous Metabolic Disorders v1.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Bile acid synthesis defect, congenital, 2 MIM#235555 disorder of bile acid metabolism Tags treatable
Green Green List (high evidence)	ALAD Haem degradation and bilirubin metabolism defects v0.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Porphyria, acute hepatic 612740 {Lead poisoning, susceptibility to} 612740 Acute hepatic porphyria (Acute neuropathic porphyrias) Tags
Green Green List (high evidence)	ALAS2 Haem degradation and bilirubin metabolism defects v0.19	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 Phenotypes Protoporphyria, erythropoietic, X-linked, 300752 Anemia, sideroblastic, X-linked, 300751 Tags
Green Green List (high evidence)	ALAS2 Metal Metabolism Disorders v0.52	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS Genomic Medicine Service Expert Review Green Genomics England PanelApp Phenotypes 300752 Protoporphyria, erythropoietic, X-linked Sideroblastic anaemia - increased serum ferritin 300751 Anemia, sideroblastic, 1 Tags
Green Green List (high evidence)	ALDH18A1 Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes 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 Aminoacidopathy v1.139	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes P5CS deficiency MONDO:0100126 Tags
Green Green List (high evidence)	ALDH18A1 Hyperammonaemia v0.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp NHS GMS Phenotypes Cutis laxa, autosomal recessive, type IIIA (Delta-1-pyrroline 5 carboxylic acid synthetase deficiency) 219150 Tags
Green Green List (high evidence)	ALDH3A2 Miscellaneous Metabolic Disorders v1.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Sjogren-Larsson syndrome MIM#270200 disorder of lipid metabolism Tags
Green Green List (high evidence)	ALDH4A1 Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes hyperprolinemia type 2 MONDO:0009401 Tags
Green Green List (high evidence)	ALDH4A1 Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hyperprolinemia, type II MIM#239510 disorders of ornithine or proline metabolism Tags
Green Green List (high evidence)	ALDH5A1 Miscellaneous Metabolic Disorders v1.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Succinic semialdehyde dehydrogenase deficiency MIM#271980 disorder of neurotransmitter metabolism Tags
Green Green List (high evidence)	ALDH5A1 Neurotransmitter Defects v1.8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Succinic semialdehyde dehydrogenase deficiency, MIM# 271980 Tags
Green Green List (high evidence)	ALDH6A1 Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes methylmalonate semialdehyde dehydrogenase deficiency MONDO:0013579 Tags
Green Green List (high evidence)	ALDH6A1 Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Methylmalonate semialdehyde dehydrogenase deficiency MIM#614105 disorder of valine and pyrimidine metabolism Tags
Green Green List (high evidence)	ALDH7A1 Neurotransmitter Defects v1.8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy, pyridoxine-dependent, MIM# 266100 Tags treatable
Green Green List (high evidence)	ALDH7A1 Miscellaneous Metabolic Disorders v1.60	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy, pyridoxine-dependent MM#266100 disorder of lysine metabolism Tags treatable
Green Green List (high evidence)	ALDH7A1 Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes pyridoxine-dependent epilepsy MONDO:0009945 Tags
Green Green List (high evidence)	ALDOA Glycogen Storage Diseases v1.4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycogen storage disease XII , MIM#611881 Tags
Green Green List (high evidence)	ALDOB Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Fructose intolerance, hereditary, MIM# 229600 Tags
Green Green List (high evidence)	ALG1 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ik 608540 Tags
Green Green List (high evidence)	ALG11 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ip, MIM# 613661 Tags
Green Green List (high evidence)	ALG12 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ig 607143 Tags
Green Green List (high evidence)	ALG13 Congenital Disorders of Glycosylation v1.82	3 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Is (MIM# 300884) Tags
Green Green List (high evidence)	ALG14 Congenital Disorders of Glycosylation v1.82	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes 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)	ALG2 Congenital Disorders of Glycosylation v1.82	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ii (MIM# 607906) Tags
Green Green List (high evidence)	ALG3 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Id, MIM# 601110 Tags
Green Green List (high evidence)	ALG6 Congenital Disorders of Glycosylation v1.82	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ic (MIM#603147) Tags
Green Green List (high evidence)	ALG8 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ih, MIM# 608104 Tags
Green Green List (high evidence)	ALG9 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Il, MIM#608776 Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210 Tags
Green Green List (high evidence)	ALMS1 Monogenic Diabetes v0.202	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Alstrom syndrome MONDO:0008763 Tags
Green Green List (high evidence)	ALMS1 Dyslipidaemia v0.47	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Alstrom syndrome Tags
Green Green List (high evidence)	ALPL Miscellaneous Metabolic Disorders v1.60	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hypophosphatasia disorder of bone metabolism Tags
Green Green List (high evidence)	AMACR Peroxisomal Disorders v0.61	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	AMACR Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Bile acid synthesis defect, congenital, 4, MIM# 214950 Alpha-methylacyl-CoA racemase deficiency, MIM# 614307 Tags
Green Green List (high evidence)	AMN Vitamin metabolism disorders v1.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Imerslund-Grasbeck syndrome 2 MIM#618882 Disorders of cobalamin absorption, transport and metabolism Tags
Green Green List (high evidence)	AMPD2 Nucleotide metabolism disorders v0.8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes pontocerebellar hypoplasia type 9 MONDO:0014351 Disorders of purine metabolism Tags
Green Green List (high evidence)	AMT Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes glycine encephalopathy MONDO:0011612 Tags
Green Green List (high evidence)	AMT Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Glycine encephalopathy MIM#605899 disorder of glycine metabolism Tags
Green Green List (high evidence)	ANGPTL3 Dyslipidaemia v0.47	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hypobetalipoproteinemia, familial, 2 MIM#605019 Tags
Green Green List (high evidence)	AP1S1 Metal Metabolism Disorders v0.52	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MEDNIK syndrome MONDO:0012251 Disorders of copper metabolism Tags
Green Green List (high evidence)	AP5M1 Lysosomal Storage Disorder v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hereditary macular dystrophy MONDO:0020242, AP-5 complex-related Tags
Green Green List (high evidence)	AP5Z1 Lysosomal Storage Disorder v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of autophagy hereditary spastic paraplegia MONDO:0019064 Tags
Green Green List (high evidence)	APOA1 Dyslipidaemia v0.47	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hypoalphalipoproteinaemia, primary, 2, intermediate, MIM# 619836 Tags
Green Green List (high evidence)	APOA5 Dyslipidaemia v0.47	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Hyperchylomicronemia Tags
Green Green List (high evidence)	APOB Dyslipidaemia v0.47	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Hypobetalipoproteinemia, Hypercholesterolemia Tags treatable
Green Green List (high evidence)	APOC2 Dyslipidaemia v0.47	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hyperlipoproteinemia, type Ib MIM#207750 Tags
Green Green List (high evidence)	APOE Dyslipidaemia v0.47	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Sea-blue histiocyte disease, Dysbetalipoproteinemia, familial (Hyperlipoproteinemia), Lipoprotein glomerulopathy Tags
Green Green List (high evidence)	APOPT1 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex IV deficiency, nuclear type 17, MIM#619061 Tags
Green Green List (high evidence)	APRT Nucleotide metabolism disorders v0.8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes adenine phosphoribosyltransferase deficiency MONDO:0013869 Disorders of purine metabolism Tags
Green Green List (high evidence)	APTX Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia MIM#208920 Tags
Green Green List (high evidence)	ARG1 Hyperammonaemia v0.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp NHS GMS Phenotypes Argininemia 207800 Tags treatable
Green Green List (high evidence)	ARG1 Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes hyperargininemia MONDO:0008814 Tags
Green Green List (high evidence)	ARG1 Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Argininemia MIM#207800 Urea cycle disorders and inherited hyperammonaemias disorder of arginine metabolism Tags treatable
Green Green List (high evidence)	ARSA Lysosomal Storage Disorder v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Metachromatic leukodystrophy, MIM# 250100 MONDO:0009591 Tags clinical trial treatable
Green Green List (high evidence)	ARSB Lysosomal Storage Disorder v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mucopolysaccharidosis type VI (Maroteaux-Lamy), MIM# 253200 MONDO:0009661 Tags clinical trial treatable
Green Green List (high evidence)	ARSE Peroxisomal Disorders v0.61	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Phenotypes Chondrodysplasia punctata, X-linked recessive (MIM#302950) Tags new gene name
Green Green List (high evidence)	ARSK Lysosomal Storage Disorder v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mucopolysaccharidosis MONDO:0019249, ARSK-related Tags
Green Green List (high evidence)	ASAH1 Lysosomal Storage Disorder v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Farber lipogranulomatosis, MIM# 228000 Tags
Green Green List (high evidence)	ASL Miscellaneous Metabolic Disorders v1.60	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 Phenotypes Argininosuccinic aciduria MIM#207900 Urea cycle disorders and inherited hyperammonaemias disorder of amino acid metabolism Tags treatable
Green Green List (high evidence)	ASL Hyperammonaemia v0.10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Genomics England PanelApp NHS GMS Expert list Victorian Clinical Genetics Services Phenotypes Argininosuccinic aciduria 207900 Tags treatable
Green Green List (high evidence)	ASL Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes argininosuccinic aciduria MONDO:0008815 Tags
Green Green List (high evidence)	ASNS Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome MONDO:0014258 Tags
Green Green List (high evidence)	ASPA Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Canavan disease MIM#271900 disorder of amino acid metabolism Tags
Green Green List (high evidence)	ASS1 Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes citrullinemia type I MONDO:0008988 Tags
Green Green List (high evidence)	ASS1 Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Citrullinemia MIM#215700 Urea cycle disorders and inherited hyperammonaemias disorder of amino acid metabolism Tags treatable
Green Green List (high evidence)	ASS1 Hyperammonaemia v0.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp NHS GMS Phenotypes Citrullinemia 215700 Tags treatable
Green Green List (high evidence)	ATAD3A Mitochondrial disease v1.14	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 Phenotypes 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)	ATIC Miscellaneous Metabolic Disorders v1.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes AICA-ribosiduria due to ATIC deficiency MIM#608688 disorders of purine metabolism Tags
Green Green List (high evidence)	ATP13A2 Lysosomal Storage Disorder v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 78, autosomal recessive 617225 Tags
Green Green List (high evidence)	ATP5A1 Mitochondrial disease v1.14	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 Phenotypes 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)	ATP5D Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex V (ATP synthase) deficiency, MIM# 618120 Tags new gene name
Green Green List (high evidence)	ATP5E Mitochondrial disease v1.14	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053 Tags new gene name
Green Green List (high evidence)	ATP5G3 Mitochondrial disease v1.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature Phenotypes Dystonia, early-onset, and/or spastic paraplegia, MIM#619681 Tags new gene name
Green Green List (high evidence)	ATP5O Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 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 v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes immunodeficiency-47 (MIM# 300972) Tags
Green Green List (high evidence)	ATP6AP2 Congenital Disorders of Glycosylation v1.82	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Congenital disorder of glycosylation, type IIr, MIM# 301045 Tags
Green Green List (high evidence)	ATP6V0A2 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cutis laxa, autosomal recessive, type IIA, MIM# 219200 Wrinkly skin syndrome, MIM#278250 Tags
Green Green List (high evidence)	ATP7A Miscellaneous Metabolic Disorders v1.60	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Phenotypes Menkes disease MIM#309400 Occipital horn syndrome MIM#304150 disorder of copper matabolism Tags
Green Green List (high evidence)	ATP7A Metal Metabolism Disorders v0.52	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes 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)	ATP7B Metal Metabolism Disorders v0.52	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS Genomic Medicine Service Expert Review Green Genomics England PanelApp Phenotypes 277900 WILSON DISEASE Tags
Green Green List (high evidence)	ATP8B1 Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Cholestasis, progressive familial intrahepatic 1 MIM#211600 disorder of bile acid metabolism Tags
Green Green List (high evidence)	ATP8B1 Haem degradation and bilirubin metabolism defects v0.19	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes progressive familial intrahepatic cholestasis type 1 MONDO:0008892 Disorders of bile acid metabolism Tags
Green Green List (high evidence)	AUH Hyperammonaemia v0.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes 3-methylglutaconic aciduria, type I 250950 Tags
Green Green List (high evidence)	AUH Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes 3-methylglutaconic aciduria type 1 MONDO:0009610 Tags
Green Green List (high evidence)	B3GALNT2 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181 MONDO:0014071 Tags
Green Green List (high evidence)	B3GALT6 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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 v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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 v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Peters-plus syndrome (MIM# 261540) Tags
Green Green List (high evidence)	B4GALNT1 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 26, autosomal recessive (MIM #609195) Tags
Green Green List (high evidence)	B4GALT1 Congenital Disorders of Glycosylation v1.82	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	B4GALT7 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ehlers-Danlos syndrome, spondylodysplastic type, 1, 130070 Tags founder
Green Green List (high evidence)	BAAT Miscellaneous Metabolic Disorders v1.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Bile acid conjugation defect 1, MIM# 619232 Hypercholanemia, familial MIM#607748 disorder of bile acid metabolism Tags
Green Green List (high evidence)	BCAT2 Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes hypervalinemia and hyperleucine-isoleucinemia MONDO:0100058 Tags
Green Green List (high evidence)	BCKDHA Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes maple syrup urine disease type 1A MONDO:0023691 Tags treatable
Green Green List (high evidence)	BCKDHA Hyperammonaemia v0.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Maple syrup urine disease, type Ia 248600 Tags treatable
Green Green List (high evidence)	BCKDHB Aminoacidopathy v1.139	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes maple syrup urine disease type 1B MONDO:0023692 Tags treatable
Green Green List (high evidence)	BCKDHB Hyperammonaemia v0.10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Maple syrup urine disease, type Ib 248600 Tags treatable
Green Green List (high evidence)	BCKDK Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes branched-chain keto acid dehydrogenase kinase deficiency MONDO:0013970 Tags treatable
Green Green List (high evidence)	BCS1L Mitochondrial disease v1.14	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 Phenotypes Bjornstad syndrome, MIM# 262000 Leigh syndrome, MIM# 256000 BCS1L-related mitochondrial disease Tags
Green Green List (high evidence)	BLM Monogenic Diabetes v0.202	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bloom Syndrome MIM# 210900 Short stature, dysmorphic facies sun-sensitive immunoglobulin deficiency (IgA, IgG, IgM) erythema marrow failure leukaemia lymphoma chromosomal instability predisposition to malignancies Tags
Green Green List (high evidence)	BOLA3 Mitochondrial disease v1.14	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 Phenotypes Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM# 614299 Tags
Green Green List (high evidence)	BORCS5 Lysosomal Storage Disorder v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lysosomal storage disease, MONDO:0002561, BORCS5-related Tags
Green Green List (high evidence)	BSCL2 Monogenic Diabetes v0.202	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes congenital generalized lipodystrophy type 2 MONDO:0010020 diabetes mellitus MONDO:0005015 Tags
Green Green List (high evidence)	BTD Miscellaneous Metabolic Disorders v1.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Biotinidase deficiency MIM#253260 disorder of biotin metabolism Tags treatable
Green Green List (high evidence)	C12orf65 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Spastic paraplegia 55, autosomal recessive, MIM#615035 Combined oxidative phosphorylation deficiency 7, MIM# 613559 Tags new gene name
Green Green List (high evidence)	C19orf70 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Combined oxidative phosphorylation deficiency 37, MIM# 618329 Tags new gene name
Green Green List (high evidence)	C1QBP Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 33, MIM# 617713 Tags
Green Green List (high evidence)	C2orf69 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423 Tags
Green Green List (high evidence)	CA5A Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hyperammonemia due to carbonic anhydrase VA deficiency, MIM# 615751 Tags SV/CNV treatable
Green Green List (high evidence)	CA5A Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency MONDO:0014332 Tags
Green Green List (high evidence)	CA5A Hyperammonaemia v0.10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperammonemia due to carbonic anhydrase VA deficiency 615751 Tags
Green Green List (high evidence)	CAD Nucleotide metabolism disorders v0.8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Phenotypes Epileptic encephalopathy, early infantile, 50, MIM# 616457 Tags
Green Green List (high evidence)	CARS2 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 27, MIM# 616672 MONDO:0014728 Tags
Green Green List (high evidence)	CAT Peroxisomal Disorders v0.61	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	CAV1 Monogenic Diabetes v0.202	3 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital generalized lipodystrophy type 3, MONDO:0012923 Tags
Green Green List (high evidence)	CAVIN1 Monogenic Diabetes v0.202	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Lipodystrophy, congenital generalized, type 4, MIM# 613327 MONDO:0013225 Tags treatable
Green Green List (high evidence)	CBS Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes classic homocystinuria MONDO:0009352 Tags
Green Green List (high evidence)	CBS Miscellaneous Metabolic Disorders v1.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes 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)	CCDC115 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type IIo (MIM# 616828) Tags
Green Green List (high evidence)	CEL Monogenic Diabetes v0.202	4 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Diabetes and pancreatic exocrine dysfunction Maturity-onset diabetes of the young, type VIII, 609812 Tags technically challenging
Green Green List (high evidence)	CHCHD10 Mitochondrial disease v1.14	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes 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)	CHCHD2 Mitochondrial disease v1.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Parkinson disease 22, autosomal dominant MIM#616710 Tags
Green Green List (high evidence)	CHKB Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Muscular dystrophy, congenital, megaconial type, MIM# 602541 Intellectual disability Abnormal mitochondria Tags
Green Green List (high evidence)	CHST14 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776 Tags
Green Green List (high evidence)	CHST3 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spondyloepiphyseal dysplasia with congenital joint dislocations, MIM# 143095 Tags
Green Green List (high evidence)	CHST6 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Macular corneal dystrophy, MIM# 217800, MONDO:0009020 Tags
Green Green List (high evidence)	CHSY1 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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 v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Multiple mitochondrial dysfunctions syndrome 10, MIM#620960 Tags
Green Green List (high evidence)	CISD2 Monogenic Diabetes v0.202	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Wolfram syndrome, MIM#2604928 Tags
Green Green List (high evidence)	CISD2 Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Phenotypes Wolfram syndrome 2 MIM#604928 Tags
Green Green List (high evidence)	CLCN6 Lysosomal Storage Disorder v1.27	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Benign partial epilepsy febrile seizures NCL Tags
Green Green List (high evidence)	CLDN10 Metal Metabolism Disorders v0.52	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of magnesium metabolism HELIX syndrome MONDO:0060564 Tags
Green Green List (high evidence)	CLDN16 Metal Metabolism Disorders v0.52	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of magnesium metabolism renal hypomagnesemia 3 MONDO:0009550 Tags
Green Green List (high evidence)	CLDN19 Metal Metabolism Disorders v0.52	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of magnesium metabolism renal hypomagnesemia 5 with ocular involvement MONDO:0009548 Tags
Green Green List (high evidence)	CLN3 Lysosomal Storage Disorder v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ceroid lipofuscinosis, neuronal, 3, MIM# 204200 MONDO:0008767 Tags
Green Green List (high evidence)	CLN5 Lysosomal Storage Disorder v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ceroid lipofuscinosis, neuronal, 5, MIM# 256731 MONDO:0009745 Tags
Green Green List (high evidence)	CLN6 Lysosomal Storage Disorder v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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 v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ceroid lipofuscinosis, neuronal, 8, MIM# 600143 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003 Tags founder
Green Green List (high evidence)	CLPB Aminoacidopathy v1.139	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia MONDO:0014561 3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835 Tags
Green Green List (high evidence)	CLPB Mitochondrial disease v1.14	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 Phenotypes 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 v1.14	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 Phenotypes Perrault syndrome 3, MIM# 614129 Tags
Green Green List (high evidence)	CNNM2 Metal Metabolism Disorders v0.52	0 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes renal hypomagnesemia 6 MONDO:0013480 Disorders of magnesium metabolism Tags
Green Green List (high evidence)	COA6 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex IV deficiency, nuclear type 13, MIM# 616501 Cardioencephalomyopathy, fatal infantile, MONDO:0014668 Tags
Green Green List (high evidence)	COA7 Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Expert list Phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MIM#618387 Tags
Green Green List (high evidence)	COASY Vitamin metabolism disorders v1.7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes neurodegeneration with brain iron accumulation 6 MONDO:0014290 Disorders of pantothenate and CoA metabolism Tags
Green Green List (high evidence)	COASY Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature NHS GMS Phenotypes Neurodegeneration with brain iron accumulation 6 MIM#615643 Pontocerebellar hypoplasia, type 12 MIM#618266 Tags
Green Green List (high evidence)	COG1 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIg, MIM# 611209 Tags
Green Green List (high evidence)	COG4 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIj 613489 Tags
Green Green List (high evidence)	COG5 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIi, MIM# 613612 Tags
Green Green List (high evidence)	COG6 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIl, MIM# 614576 Tags
Green Green List (high evidence)	COG7 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIe , MIM#608779 Tags
Green Green List (high evidence)	COG8 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIh, MIM# 611182 Tags
Green Green List (high evidence)	COQ2 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Coenzyme Q10 deficiency, primary, 1, MIM# 607426 MONDO:0011829 Tags
Green Green List (high evidence)	COQ2 Monogenic Diabetes v0.202	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes coenzyme Q10 deficiency, primary, 1 MONDO:0011829 Tags
Green Green List (high evidence)	COQ4 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Coenzyme Q10 deficiency, primary, 7, MIM# 616276 Spastic ataxia 10, autosomal recessive, MIM# 620666 Tags treatable
Green Green List (high evidence)	COQ5 Mitochondrial disease v1.14	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Phenotypes Coenzyme Q10 deficiency, primary, 9 MIM#619028 Tags
Green Green List (high evidence)	COQ6 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Coenzyme Q10 deficiency, primary, 6 MIM#614650 Tags
Green Green List (high evidence)	COQ7 Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Phenotypes Coenzyme Q10 deficiency, primary, 8 MIM#616733 Tags
Green Green List (high evidence)	COQ8A Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Coenzyme Q10 deficiency, primary, 4 MIM#612016 Tags treatable
Green Green List (high evidence)	COQ8B Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Nephrotic syndrome, type 9 MIM#615573 Tags
Green Green List (high evidence)	COQ9 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Coenzyme Q10 deficiency, primary, 5, MIM#614654 Tags
Green Green List (high evidence)	COX10 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex IV deficiency, nuclear type 3, MIM# 619046 Tags
Green Green List (high evidence)	COX11 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial disease (MONDO:0044970), COX11-related Tags
Green Green List (high evidence)	COX15 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119 Tags
Green Green List (high evidence)	COX18 Mitochondrial disease v1.14	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 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 v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex IV deficiency, nuclear type 11, MIM#619054 Tags
Green Green List (high evidence)	COX4I1 Mitochondrial disease v1.14	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes 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 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Charcot Marie Tooth disease, recessive intermediate D, MIM# 616039 MONDO:0014467 Tags
Green Green List (high evidence)	COX6A2 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Mitochondrial complex IV deficiency, nuclear type 18, MIM#619062 Tags
Green Green List (high evidence)	COX6B1 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex IV deficiency, nuclear type 7, MIM# 619051 Tags
Green Green List (high evidence)	COX7B Mitochondrial disease v1.14	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 Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Phenotypes Linear skin defects with multiple congenital anomalies 2, MIM#300887 Tags
Green Green List (high evidence)	CP Metal Metabolism Disorders v0.52	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS Genomic Medicine Service Expert Review Green Genomics England PanelApp Phenotypes 604290 ACERULOPLASMINEMIA 604290 Hemosiderosis, systemic, due to aceruloplasminemia Tags
Green Green List (high evidence)	CPOX Haem degradation and bilirubin metabolism defects v0.19	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Coproporphyria 121300 Hereditary coproporphyria (Acute neuropathic porphyrias) Harderoporphyria 121300 Tags
Green Green List (high evidence)	CPS1 Hyperammonaemia v0.10	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Carbamoylphosphate synthetase I deficiency 237300 Tags treatable
Green Green List (high evidence)	CPS1 Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes carbamoyl phosphate synthetase I deficiency disease MONDO:0009376 Tags
Green Green List (high evidence)	CPT1A Fatty Acid Oxidation Defects v1.15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes CPT deficiency, hepatic, type IA, MIM# 255120 Tags treatable
Green Green List (high evidence)	CPT1A Hyperammonaemia v0.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Genomics England PanelApp Phenotypes CPT deficiency, hepatic, type IA 255120 Tags treatable
Green Green List (high evidence)	CPT1A Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature NHS GMS Phenotypes CPT deficiency, hepatic, type IA MIM#255120 Tags treatable
Green Green List (high evidence)	CPT2 Fatty Acid Oxidation Defects v1.15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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 v1.14	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 Phenotypes 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)	CPT2 Hyperammonaemia v0.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes CPT deficiency, hepatic, type II 600649 CPT II deficiency, lethal neonatal 608836 Tags treatable
Green Green List (high evidence)	CRLS1 Mitochondrial disease v1.14	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 57, MIM# 620167 Tags
Green Green List (high evidence)	CSGALNACT1 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation Skeletal dysplasia, mild, with joint laxity and advanced bone age, MIM# 618870 Tags
Green Green List (high evidence)	CTH Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes cystathioninuria MONDO:0009058 Tags
Green Green List (high evidence)	CTLA4 Monogenic Diabetes v0.202	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Autoimmune lymphoproliferative syndrome, type V (MIM#616100), AD Tags
Green Green List (high evidence)	CTNS Lysosomal Storage Disorder v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes 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 v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Galactosialidosis, MIM# 256540 Tags
Green Green List (high evidence)	CTSC Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Haim-Munk syndrome MIM#245010 Papillon-Lefevre syndrome MIM#245000 other lysosomal disorder Tags
Green Green List (high evidence)	CTSC Lysosomal Storage Disorder v1.27	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ectodermal dysplasia syndrome MONDO:0019287 Other disorders of complex molecule degradation Tags
Green Green List (high evidence)	CTSD Lysosomal Storage Disorder v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ceroid lipofuscinosis, neuronal, 10, MIM# 610127 MONDO:0012414 Tags
Green Green List (high evidence)	CTSF Lysosomal Storage Disorder v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM# 615362 Tags
Green Green List (high evidence)	CTSK Lysosomal Storage Disorder v1.27	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Pycnodysostosis 265800 Tags
Green Green List (high evidence)	CUBN Vitamin metabolism disorders v1.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Proteinuria, chronic benign MIM#618884 Imerslund-Grasbeck syndrome 1 MIM#261100 Intrinsic factor receptor deficiency due to CUBN mutations (Disorders of cobalamin absorption, transport and metabolism) Tags treatable
Green Green List (high evidence)	CYB5R3 Haem degradation and bilirubin metabolism defects v0.19	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of haem degradation and bilirubin metabolism methemoglobinemia due to deficiency of methemoglobin reductase MONDO:0009606 Tags
Green Green List (high evidence)	CYC1 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex III deficiency, nuclear type 6 MIM#615453 Tags
Green Green List (high evidence)	CYCS Mitochondrial disease v1.14	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 Phenotypes Thrombocytopenia 4, MIM#612004 Tags
Green Green List (high evidence)	CYP24A1 Vitamin metabolism disorders v1.7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Other disorders of vitamin metabolism hypercalcemia, infantile, 1 MONDO:0020739 Tags
Green Green List (high evidence)	CYP27A1 Dyslipidaemia v0.47	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebrotendinous xanthomatosis MIM#213700 Tags
Green Green List (high evidence)	CYP27A1 Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Cerebrotendinous xanthomatosis MIM#213700 Disorders of bile acid biosynthesis Tags
Green Green List (high evidence)	CYP27B1 Vitamin metabolism disorders v1.7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes vitamin D-dependent rickets, type 1A MONDO:0020723 Other disorders of vitamin metabolism Tags
Green Green List (high evidence)	CYP2R1 Vitamin metabolism disorders v1.7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes vitamin D hydroxylation-deficient rickets, type 1B MONDO:0010810 Other disorders of vitamin metabolism Tags
Green Green List (high evidence)	CYP7B1 Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes 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)	D2HGDH Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Literature Victorian Clinical Genetics Services Phenotypes D-2-hydroxyglutaric aciduria MIM#600721 Tags
Green Green List (high evidence)	DAP3 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Perrault syndrome 7, MIM# 621101 Tags
Green Green List (high evidence)	DARS2 Mitochondrial disease v1.14	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 Phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105 Tags
Green Green List (high evidence)	DBH Neurotransmitter Defects v1.8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dopamine beta-hydroxylase deficiency, MIM#223360 Tags
Green Green List (high evidence)	DBT Hyperammonaemia v0.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Maple syrup urine disease, type II 248600 Tags treatable
Green Green List (high evidence)	DBT Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes maple syrup urine disease MONDO:0009563 Tags treatable
Green Green List (high evidence)	DCAF17 Monogenic Diabetes v0.202	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Woodhouse-Sakati syndrome MONDO:0009419 Tags
Green Green List (high evidence)	DDC Neurotransmitter Defects v1.8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aromatic L-amino acid decarboxylase deficiency, MIM# 608643 Tags clinical trial treatable
Green Green List (high evidence)	DDOST Congenital Disorders of Glycosylation v1.82	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes DDOST-congenital disorder of glycosylation MONDO:0013789 Tags
Green Green List (high evidence)	DGUOK Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes 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 v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Desmosterolosis, MONDO:0011217 Tags
Green Green List (high evidence)	DHCR7 Miscellaneous Metabolic Disorders v1.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Smith-Lemli-Opitz syndrome MIM#270400 Disorders of sterol biosynthesis Tags
Green Green List (high evidence)	DHDDS Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type 1bb, MIM# 613861 Tags
Green Green List (high evidence)	DHFR Neurotransmitter Defects v1.8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Megaloblastic anemia due to dihydrofolate reductase deficiency, MIM# 613839 Tags
Green Green List (high evidence)	DHODH Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Miller syndrome MIM#263750 Disorders of pyrimidine metabolism Tags
Green Green List (high evidence)	DHODH Nucleotide metabolism disorders v0.8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Miller syndrome MIM#263750 Disorders of pyrimidine metabolism Tags
Green Green List (high evidence)	DHRSX Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type 1DD, MIM# 301133 Tags
Green Green List (high evidence)	DHTKD1 Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes 2-aminoadipic 2-oxoadipic aciduria MONDO:0008774 Tags
Green Green List (high evidence)	DHTKD1 Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes 2-aminoadipic 2-oxoadipic aciduria MONDO:0008774 Tags
Green Green List (high evidence)	DLAT Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Pyruvate dehydrogenase E2 deficiency MIM#245348 Tags
Green Green List (high evidence)	DLD Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Dihydrolipoamide dehydrogenase deficiency MIM#246900 Tags
Green Green List (high evidence)	DLD Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes pyruvate dehydrogenase E3 deficiency MONDO:0009529 Tags
Green Green List (high evidence)	DNA2 Mitochondrial disease v1.14	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Seckel syndrome 8, MIM#615807 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 MIM#615156 Tags
Green Green List (high evidence)	DNAJC12 Neurotransmitter Defects v1.8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hyperphenylalaninemia, mild, non-BH4-deficient, MIM# 617384 Tags
Green Green List (high evidence)	DNAJC12 Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes hyperphenylalaninemia due to DNAJC12 deficiency MONDO:0044304 Tags
Green Green List (high evidence)	DNAJC19 Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 3-methylglutaconic aciduria type 5 MONDO:0012435 Tags
Green Green List (high evidence)	DNAJC19 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes 3-methylglutaconic aciduria, type V MIM#610198 Tags
Green Green List (high evidence)	DNAJC3 Monogenic Diabetes v0.202	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome MONDO:0014523 Tags
Green Green List (high evidence)	DNAJC30 Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Leber Hereditary Optic Neuropathy, MIM#619382 Tags
Green Green List (high evidence)	DNAJC5 Lysosomal Storage Disorder v1.27	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 4 (Kufs type), MONDO:0008083 Tags
Green Green List (high evidence)	DNM1L Peroxisomal Disorders v0.61	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources ClinGen Literature Expert Review Green Phenotypes Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MONDO:0013726 Tags
Green Green List (high evidence)	DNM1L Mitochondrial disease v1.14	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature ClinGen Phenotypes Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MONDO:0013726 Tags
Green Green List (high evidence)	DNM2 Mitochondrial disease v1.14	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 Phenotypes 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)	DOLK Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes DK1-CDG, MONDO:0012556 Congenital disorder of glycosylation, type Im, MIM# 610768 Tags
Green Green List (high evidence)	DPAGT1 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ij, MIM# 608093 DPAGT1-CDG MONDO:0011964 Tags
Green Green List (high evidence)	DPM1 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ie, MIM# 608799 Tags
Green Green List (high evidence)	DPM2 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Iu, MIM#615042 Tags
Green Green List (high evidence)	DPM3 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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 Nucleotide metabolism disorders v0.8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Phenotypes Dihydropyrimidine dehydrogenase deficiency MONDO:0010130 Disorders of pyrimidine metabolism Tags
Green Green List (high evidence)	DPYD Miscellaneous Metabolic Disorders v1.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes 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 v1.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Dihydropyrimidinuria MIM#222748 Disorders of pyrimidine metabolism Tags
Green Green List (high evidence)	DPYS Nucleotide metabolism disorders v0.8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Dihydropyrimidinuria MONDO:0009111 Disorders of pyrimidine metabolism Tags
Green Green List (high evidence)	DUT Monogenic Diabetes v0.202	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Phenotypes Bone marrow failure and diabetes mellitus syndrome (MIM#620044) Tags
Green Green List (high evidence)	EARS2 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes 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)	ECHS1 Fatty Acid Oxidation Defects v1.15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277 Tags
Green Green List (high evidence)	ECHS1 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Leigh syndrome MONDO:0009723 Tags
Green Green List (high evidence)	EDEM3 Congenital Disorders of Glycosylation v1.82	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type 2V, MIM# 619493 Tags
Green Green List (high evidence)	EIF2AK3 Monogenic Diabetes v0.202	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Wolcott-Rallison syndrome MONDO:0009192 neonatal diabetes mellitus MONDO:0016391 Tags
Green Green List (high evidence)	EIF2B1 Monogenic Diabetes v0.202	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Neonatal diabetes mellitus, MONDO:0016391, EIF2B1-related Tags
Green Green List (high evidence)	EIF2S3 Monogenic Diabetes v0.202	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS Expert Review Green Phenotypes microcephaly MEHMO syndrome (X-linked NDM and microcephaly),300148 diabetes epilepsy hypogonadism intellectual disability hypogenitalism central obesity Tags
Green Green List (high evidence)	ELAC2 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 17, MIM#615440 Tags
Green Green List (high evidence)	ENO3 Glycogen Storage Diseases v1.4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycogen storage disease XIII, MIM#612932 Tags
Green Green List (high evidence)	ENPP1 Nucleotide metabolism disorders v0.8	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Cole disease, MIM# 615522 Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312 Arterial calcification, generalized, of infancy, 1, MIM# 208000 Tags
Green Green List (high evidence)	EOGT Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Adams-Oliver syndrome 4 (MIM #615297) scalp aplasia cutis congenita transverse terminal limb defects Tags
Green Green List (high evidence)	EPG5 Miscellaneous Metabolic Disorders v1.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Vici syndrome MIM#242840 Congenital disorders of autophagy Tags
Green Green List (high evidence)	EPG5 Lysosomal Storage Disorder v1.27	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of autophagy Vici syndrome MONDO:0009452 Tags
Green Green List (high evidence)	EPM2A Glycogen Storage Diseases v1.4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy, progressive myoclonic 2A (Lafora), MIM# 254780 Tags
Green Green List (high evidence)	ETFA Vitamin metabolism disorders v1.7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes multiple acyl-CoA dehydrogenase deficiency MONDO:0009282 Disorders of mitochondrial fatty acid oxidation Tags
Green Green List (high evidence)	ETFA Fatty Acid Oxidation Defects v1.15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glutaric acidemia IIA, MIM# 231680 Tags treatable
Green Green List (high evidence)	ETFA Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Glutaric acidemia IIA MIM#231680 Multiple acyl-CoA dehydrogenase deficiency (MADD) Tags treatable
Green Green List (high evidence)	ETFA Hyperammonaemia v0.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Genomics England PanelApp Phenotypes Glutaric acidemia IIA 231680 Tags treatable
Green Green List (high evidence)	ETFB Vitamin metabolism disorders v1.7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes multiple acyl-CoA dehydrogenase deficiency MONDO:0009282 Disorders of mitochondrial fatty acid oxidation Tags
Green Green List (high evidence)	ETFB Fatty Acid Oxidation Defects v1.15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glutaric acidemia IIB, MIM# 231680 Tags treatable
Green Green List (high evidence)	ETFB Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Glutaric acidemia IIB MIM#231680 Multiple acyl-CoA dehydrogenase deficiency (MADD) Tags treatable
Green Green List (high evidence)	ETFB Hyperammonaemia v0.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Glutaric acidemia IIB 231680 Tags treatable
Green Green List (high evidence)	ETFDH Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Glutaric acidemia IIC MIM#231680 Multiple acyl-CoA dehydrogenase deficiency (MADD) Tags treatable
Green Green List (high evidence)	ETFDH Hyperammonaemia v0.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Genomics England PanelApp Phenotypes Glutaric acidemia IIC 231680 Tags treatable
Green Green List (high evidence)	ETFDH Fatty Acid Oxidation Defects v1.15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glutaric acidemia IIC, MIM# 231680 Tags treatable
Green Green List (high evidence)	ETFDH Vitamin metabolism disorders v1.7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes multiple acyl-CoA dehydrogenase deficiency MONDO:0009282 Disorders of mitochondrial fatty acid oxidation Tags
Green Green List (high evidence)	ETHE1 Mitochondrial disease v1.14	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 Phenotypes Ethylmalonic encephalopathy , MIM#602473 Tags treatable
Green Green List (high evidence)	ETHE1 Fatty Acid Oxidation Defects v1.15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Ethylmalonic encephalopathy, MIM# 602473 Tags treatable
Green Green List (high evidence)	EXT1 Congenital Disorders of Glycosylation v1.82	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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 v1.82	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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)	EXTL3 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425 Tags
Green Green List (high evidence)	FAH Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes tyrosinemia type I MONDO:0010161 Tags
Green Green List (high evidence)	FAR1 Peroxisomal Disorders v0.61	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes 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 v1.14	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 Phenotypes combined oxidative phosphorylation defect type 14 MONDO:0013986 hereditary spastic paraplegia 77 MONDO:0014882 Tags
Green Green List (high evidence)	FASTKD2 Mitochondrial disease v1.14	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 Phenotypes Combined oxidative phosphorylation deficiency 44, MIM# 618855 FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632 Tags
Green Green List (high evidence)	FASTKD5 Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial complex IV deficiency, nuclear type 24, MIM# 621431 Tags
Green Green List (high evidence)	FBP1 Glycogen Storage Diseases v1.4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fructose-1,6-bisphosphatase deficiency, MIM# 229700 Tags
Green Green List (high evidence)	FBXL4 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471 Tags
Green Green List (high evidence)	FDFT1 Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes squalene synthase deficiency MONDO:0032566 Tags
Green Green List (high evidence)	FDX2 Mitochondrial disease v1.14	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 Phenotypes Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, MIM# 251900 inborn mitochondrial myopathy MONDO:0009637 Tags
Green Green List (high evidence)	FDXR Mitochondrial disease v1.14	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 Phenotypes 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)	FECH Haem degradation and bilirubin metabolism defects v0.19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Protoporphyria, erythropoietic, autosomal recessive, 177000 Tags deep intronic SV/CNV
Green Green List (high evidence)	FH Mitochondrial disease v1.14	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 Phenotypes hereditary leiomyomatosis and renal cell cancer MONDO:0007888 fumaric aciduria MONDO:0011730 Tags
Green Green List (high evidence)	FKRP Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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)	FKTN Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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)	FLAD1 Fatty Acid Oxidation Defects v1.15	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, MIM# 255100 Tags
Green Green List (high evidence)	FLAD1 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MIM#255100 Tags
Green Green List (high evidence)	FLAD1 Vitamin metabolism disorders v1.7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes myopathy with abnormal lipid metabolism MONDO:0009703 Disorders of riboflavin metabolism Tags
Green Green List (high evidence)	FMO3 Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes trimethylaminuria MONDO:0011182 Tags
Green Green List (high evidence)	FMO3 Miscellaneous Metabolic Disorders v1.60	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Trimethylaminuria MIM#602079 Disorders and variants of other enzymes that oxidise xenobiotics Tags
Green Green List (high evidence)	FOLR1 Vitamin metabolism disorders v1.7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Neurodegenerative syndrome due to cerebral folate transport deficiency MONDO:0013110 Disorders of folate metabolism Tags
Green Green List (high evidence)	FOLR1 Neurotransmitter Defects v1.8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068 Tags
Green Green List (high evidence)	FOXP3 Monogenic Diabetes v0.202	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green UKGTN Phenotypes immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome MONDO:0010580 Tags
Green Green List (high evidence)	FOXRED1 Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 19 MIM#618241 Tags
Green Green List (high evidence)	FTCD Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Glutamate formiminotransferase deficiency MIM#229100 Disorders of histidine, tryptophan or lysine metabolism Tags
Green Green List (high evidence)	FTL Metal Metabolism Disorders v0.52	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS Genomic Medicine Service Genomics England PanelApp Phenotypes 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)	FUCA1 Lysosomal Storage Disorder v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fucosidosis, MIM# 230000 MONDO:0009254 Tags
Green Green List (high evidence)	FUK Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation with defective fucosylation 2, MIM# 618324 Tags
Green Green List (high evidence)	FUT8 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Congenital disorder of glycosylation with defective fucosylation, 618005 Tags
Green Green List (high evidence)	FXN Mitochondrial disease v1.14	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 Phenotypes Friedreich ataxia, MIM# 229300 Tags
Green Green List (high evidence)	FXN_FRDA_GAA STR Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Friedreich ataxia MIM#229300 Tags
Green Green List (high evidence)	G6PC Glycogen Storage Diseases v1.4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycogen storage disease Ia, MIM# 232200 Tags treatable
Green Green List (high evidence)	G6PC3 Congenital Disorders of Glycosylation v1.82	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dursun syndrome 612541 Neutropenia, severe congenital 4, autosomal recessive 612541 Tags
Green Green List (high evidence)	GAA Glycogen Storage Diseases v1.4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycogen storage disease II (MIM#232300) MONDO:0009290 Tags
Green Green List (high evidence)	GAA Lysosomal Storage Disorder v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycogen storage disease II, MIM# 232300 MONDO:0009290 Tags
Green Green List (high evidence)	GABBR2 Neurotransmitter Defects v1.8	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Developmental and epileptic encephalopathy, 59 MONDO:0033368 Gamma-aminobutyric acid neurotransmitter disorders Tags
Green Green List (high evidence)	GABRA1 Neurotransmitter Defects v1.8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 19, MIM# 615744 Tags
Green Green List (high evidence)	GABRB1 Neurotransmitter Defects v1.8	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Developmental and epileptic encephalopathy, 45 MONDO:0014942 Gamma-aminobutyric acid neurotransmitter disorders Tags
Green Green List (high evidence)	GABRB2 Neurotransmitter Defects v1.8	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Epileptic encephalopathy, infantile or early childhood, 2 MONDO:0020631 Gamma-aminobutyric acid neurotransmitter disorders Tags
Green Green List (high evidence)	GABRB3 Neurotransmitter Defects v1.8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 43, MIM# 617113 Tags
Green Green List (high evidence)	GABRD Neurotransmitter Defects v1.8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual disability Epilepsy Susceptibility to epilepsy, MIM#613060 Tags
Green Green List (high evidence)	GABRG2 Neurotransmitter Defects v1.8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 74 618396 Epilepsy, generalized, with febrile seizures plus, type 3 607681 Tags
Green Green List (high evidence)	GAD1 Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes Developmental and epileptic encephalopathy 89, MIM# 619124 Tags
Green Green List (high evidence)	GALC Lysosomal Storage Disorder v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Krabbe disease, MIM# 245200 MONDO:0009499 Tags
Green Green List (high evidence)	GALE Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Galactose epimerase deficiency MIM#230350 Disorders of galactose metabolism Tags treatable
Green Green List (high evidence)	GALK1 Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Galactokinase deficiency with cataracts MIM#230200 Disorders of galactose metabolism Tags treatable
Green Green List (high evidence)	GALM Miscellaneous Metabolic Disorders v1.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Galactosemia IV MIM#618881 Disorders of galactose metabolism Tags
Green Green List (high evidence)	GALNS Lysosomal Storage Disorder v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mucopolysaccharidosis IVA, MIM# 253000 MONDO:0009659 Tags treatable
Green Green List (high evidence)	GALNT2 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type IIt, MIM# 618885 Tags
Green Green List (high evidence)	GALNT3 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900 Tags
Green Green List (high evidence)	GALT Miscellaneous Metabolic Disorders v1.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Galactosemia MIM#230400 Disorders of galactose metabolism Tags treatable
Green Green List (high evidence)	GAMT Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes guanidinoacetate methyltransferase deficiency MONDO:0012999 Tags
Green Green List (high evidence)	GAMT Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Cerebral creatine deficiency syndrome 2 MIM#612736 Disorders of creatinine metabolism Tags treatable
Green Green List (high evidence)	GARS Mitochondrial disease v1.14	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 Phenotypes 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)	GATA4 Monogenic Diabetes v0.202	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS UKGTN Phenotypes neonatal diabetes mellitus MONDO:0016391 Tags
Green Green List (high evidence)	GATA6 Monogenic Diabetes v0.202	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes pancreatic hypoplasia-diabetes-congenital heart disease syndrome MONDO:0010802 Tags
Green Green List (high evidence)	GATM Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes AGAT deficiency MONDO:0012996 Tags
Green Green List (high evidence)	GATM Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Cerebral creatine deficiency syndrome 3 MIM#612718 Tags
Green Green List (high evidence)	GBA Metal Metabolism Disorders v0.52	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS Genomic Medicine Service Expert Review Green Genomics England PanelApp Phenotypes 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)	GBA Lysosomal Storage Disorder v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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)	GBE1 Glycogen Storage Diseases v1.4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycogen storage disease due to glycogen branching enzyme deficiency MONDO:0009292 Tags
Green Green List (high evidence)	GCDH Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Glutaricaciduria, type I MIM#231670 Organic acidurias Tags treatable
Green Green List (high evidence)	GCDH Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes glutaryl-CoA dehydrogenase deficiency MONDO:0009281 Tags
Green Green List (high evidence)	GCH1 Aminoacidopathy v1.139	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes GTP cyclohydrolase I deficiency MONDO:0100184 Tags
Green Green List (high evidence)	GCH1 Neurotransmitter Defects v1.8	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 Phenotypes Hyperphenylalaninemia, BH4-deficient, B, MIM# 233910 Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230 Tags
Green Green List (high evidence)	GCK Monogenic Diabetes v0.202	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Diabetes mellitus, noninsulin-dependent, late onset, AD (MIM#125853) Diabetes mellitus, permanent neonatal 1, AR (MIM#606176) Hyperinsulinemic hypoglycemia, familial, 3, AD (MIM#602485) MODY, type II, AD (MIM#125851) Tags
Green Green List (high evidence)	GCLC Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency MIM#230450 Disorders of the gamma-glutamyl cycle Tags
Green Green List (high evidence)	GCLC Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Gamma-glutamylcysteine synthetase deficiency MONDO:0009259 Disorders of glutathione metabolism Tags
Green Green List (high evidence)	GCSH Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Multiple mitochondrial dysfunctions syndrome 7, MIM# 620423 Tags
Green Green List (high evidence)	GCSH Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes glycine encephalopathy MONDO:0011612 Tags
Green Green List (high evidence)	GDAP1 Mitochondrial disease v1.14	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes 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)	GFER Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay (MIM #613076) Tags
Green Green List (high evidence)	GFM1 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 1 MIM#609060 Tags
Green Green List (high evidence)	GFM2 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 39, OMIM #618397 Tags
Green Green List (high evidence)	GFPT1 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myasthenia, congenital, 12, with tubular aggregates, 610542 Limb-girdle congenital myasthenic syndrome Leukoencephalopathy Tags
Green Green List (high evidence)	GGCX Vitamin metabolism disorders v1.7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes vitamin K-dependent clotting factors, combined deficiency of, type 1 MONDO:0010187 Other disorders of vitamin metabolism Tags
Green Green List (high evidence)	GIF Vitamin metabolism disorders v1.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Intrinsic factor deficiency MIM#261000 Disorders of cobalamin absorption, transport and metabolism Tags new gene name
Green Green List (high evidence)	GK Miscellaneous Metabolic Disorders v1.60	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Phenotypes Glycerol kinase deficiency MIM#307030 Disorders of glycerol metabolism Tags
Green Green List (high evidence)	GLA Lysosomal Storage Disorder v1.27	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fabry disease, MIM# 301500 MONDO:0010526 Tags
Green Green List (high evidence)	GLB1 Lysosomal Storage Disorder v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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)	GLDC Miscellaneous Metabolic Disorders v1.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Glycine encephalopathy MIM#605899 Disorders of serine, glycine or glycerate metabolism Tags
Green Green List (high evidence)	GLDC Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes glycine encephalopathy MONDO:0011612 Tags
Green Green List (high evidence)	GLIS3 Monogenic Diabetes v0.202	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes neonatal diabetes mellitus with congenital hypothyroidism MONDO:0012436 Tags
Green Green List (high evidence)	GLRA1 Neurotransmitter Defects v1.8	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperekplexia 1, MIM# 149400 Tags
Green Green List (high evidence)	GLRB Neurotransmitter Defects v1.8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperekplexia 2, MIM# 614619 Tags
Green Green List (high evidence)	GLRX5 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Anaemia, sideroblastic, 3, pyridoxine-refractory, MIM# 616860 Tags
Green Green List (high evidence)	GLRX5 Metal Metabolism Disorders v0.52	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS Genomic Medicine Service Expert Review Green Genomics England PanelApp Phenotypes 616860 Anemia, sideroblastic, 3, pyridoxine-refractory Sideroblastic anaemia - increased serum ferritin Tags
Green Green List (high evidence)	GLS Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes 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 Aminoacidopathy v1.139	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes Glutaminase deficiency MONDO:0600001 Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development MONDO:0032685 Tags
Green Green List (high evidence)	GLS_GDPAG_GCA STR Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412 Tags
Green Green List (high evidence)	GLS_GDPAG_GCA STR Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412 Tags
Green Green List (high evidence)	GLUD1 Aminoacidopathy v1.139	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green ClinGen Phenotypes hyperinsulinism-hyperammonemia syndrome MONDO:0011717 Tags
Green Green List (high evidence)	GLUD1 Fatty Acid Oxidation Defects v1.15	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperinsulinism-hyperammonemia syndrome, MIM# 606762 Tags
Green Green List (high evidence)	GLUD1 Hyperammonaemia v0.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperinsulinism-hyperammonemia syndrome, 606762 Tags
Green Green List (high evidence)	GLUL Miscellaneous Metabolic Disorders v1.60	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Glutamine deficiency, congenital MIM#610015 Developmental and epileptic encephalopathy 116, MIM# 620806 Tags
Green Green List (high evidence)	GLUL Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes congenital brain dysgenesis due to glutamine synthetase deficiency MONDO:0012393 Tags
Green Green List (high evidence)	GLYCTK Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes D-glyceric aciduria MIM#220120 Disorders of serine, glycine or glycerate metabolism Tags
Green Green List (high evidence)	GM2A Lysosomal Storage Disorder v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes GM2-gangliosidosis, AB variant, MIM# 272750 Tags
Green Green List (high evidence)	GMPPA Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510) Tags
Green Green List (high evidence)	GMPPB Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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)	GNE Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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 Lysosomal Storage Disorder v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Nonaka myopathy, MIM# 605820 Tags
Green Green List (high evidence)	GNMT Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Glycine N-methyltransferase deficiency MIM#606664 Disorders of the metabolism of sulphur amino acids Tags
Green Green List (high evidence)	GNPAT Peroxisomal Disorders v0.61	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	GNPTAB Lysosomal Storage Disorder v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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 v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mucolipidosis III gamma, MIM# 252605 MONDO:0009652 Tags
Green Green List (high evidence)	GNS Lysosomal Storage Disorder v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mucopolysaccharidosis type IIID, MIM# 252940 Sanfilippo syndrome type D, MONDO:0009658 Tags
Green Green List (high evidence)	GORAB Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Geroderma osteodysplasticum MIM#231070 Tags
Green Green List (high evidence)	GPAA1 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Glycosylphosphatidylinositol biosynthesis defect 15, MIM# 617810 Tags
Green Green List (high evidence)	GPD1 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of mitochondrial shuttles and carriers transient infantile hypertriglyceridemia and hepatosteatosis MONDO:0013771 Tags
Green Green List (high evidence)	GPD1 Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hypertriglyceridemia, transient infantile MIM#614480 glycerol-3-phosphate dehydrogenase deficiency Tags
Green Green List (high evidence)	GPHN Metal Metabolism Disorders v0.52	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of molybdenum cofactor metabolism sulfite oxidase deficiency due to molybdenum cofactor deficiency type C MONDO:0014212 Tags
Green Green List (high evidence)	GPHN Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Molybdenum cofactor deficiency C MIM#615501 Disorders of molybdenum cofactor metabolism Tags
Green Green List (high evidence)	GPIHBP1 Dyslipidaemia v0.47	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Expert Review Green Phenotypes Hyperlipoproteinemia, type ID Tags
Green Green List (high evidence)	GPT2 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with microcephaly and spastic paraplegia, MIM# 616281 Tags
Green Green List (high evidence)	GPX4 Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Spondylometaphyseal dysplasia, Sedaghatian type MONDO:0009593 Disorders of glutathione metabolism Tags
Green Green List (high evidence)	GRHPR Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes primary hyperoxaluria type 2 MONDO:0009824 Disorders of glyoxylate and oxalate metabolism Tags
Green Green List (high evidence)	GRIA3 Neurotransmitter Defects v1.8	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 Phenotypes Glutamate neurotransmitter disorders X-linked complex neurodevelopmental disorder MONDO:0100148 Tags
Green Green List (high evidence)	GRIA4 Neurotransmitter Defects v1.8	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Glutamate neurotransmitter disorders Neurodevelopmental disorder with or without seizures and gait abnormalities MONDO:0060641 Tags
Green Green List (high evidence)	GRIN1 Neurotransmitter Defects v1.8	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glutamate neurotransmitter disorders Complex neurodevelopmental disorder MONDO:0100038 Tags
Green Green List (high evidence)	GRIN2A Neurotransmitter Defects v1.8	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Glutamate neurotransmitter disorders Complex neurodevelopmental disorder MONDO:0100038 Tags
Green Green List (high evidence)	GRIN2B Neurotransmitter Defects v1.8	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Glutamate neurotransmitter disorders Complex neurodevelopmental disorder MONDO:0100038 Tags
Green Green List (high evidence)	GRIN2D Neurotransmitter Defects v1.8	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Glutamate neurotransmitter disorders Complex neurodevelopmental disorder MONDO:0100038 Tags
Green Green List (high evidence)	GRM1 Neurotransmitter Defects v1.8	0 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cerebellar ataxia MONDO:0000437 Glutamate neurotransmitter disorders Tags
Green Green List (high evidence)	GRM6 Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes GRM6-related retinopathy MONDO:0800397 Tags
Green Green List (high evidence)	GRN Lysosomal Storage Disorder v1.27	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes neuronal ceroid lipofuscinosis MONDO:0016295 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions MONDO:0011842 Tags
Green Green List (high evidence)	GSS Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes 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 Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes inherited glutathione synthetase deficiency MONDO:0017909 Tags
Green Green List (high evidence)	GSTZ1 Aminoacidopathy v1.139	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes maleylacetoacetate isomerase deficiency MONDO:0060527 Tags
Green Green List (high evidence)	GTPBP3 Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 23, MIM#616198 Tags
Green Green List (high evidence)	GUK1 Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial DNA depletion syndrome 21, MIM# 621071 Tags
Green Green List (high evidence)	GUK1 Nucleotide metabolism disorders v0.8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial DNA depletion syndrome 21, MIM# 621071 Tags
Green Green List (high evidence)	GUSB Lysosomal Storage Disorder v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mucopolysaccharidosis VII, MIM# 253220 MONDO:0009662 Tags
Green Green List (high evidence)	GYG1 Glycogen Storage Diseases v1.4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycogen storage disease XV, MIM# 613507 Polyglucosan body myopathy 2, MIM# 616199 Tags
Green Green List (high evidence)	GYS1 Glycogen Storage Diseases v1.4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycogen storage disease 0, muscle, MIM# 611556 Tags
Green Green List (high evidence)	GYS2 Glycogen Storage Diseases v1.4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycogen storage disease 0, liver (MIM#240600) Tags
Green Green List (high evidence)	HAAO Miscellaneous Metabolic Disorders v1.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Vertebral, cardiac, renal, and limb defects syndrome 1 MIM#617660 NAD deficiency Tags
Green Green List (high evidence)	HAAO Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes vertebral, cardiac, renal, and limb defects syndrome 1 MONDO:0060554 Tags
Green Green List (high evidence)	HADH Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Literature Victorian Clinical Genetics Services Phenotypes 3-hydroxyacyl-CoA dehydrogenase deficiency MIM#231530 Tags
Green Green List (high evidence)	HADH Fatty Acid Oxidation Defects v1.15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530 Hyperinsulinemic hypoglycemia, familial, 4, MIM# 609975 SCHAD deficiency, MONDO:0009278 Tags
Green Green List (high evidence)	HADHA Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Phenotypes LCHAD deficiency MIM#609016 Trifunctional protein deficiency MIM#609015 Tags treatable
Green Green List (high evidence)	HADHA Hyperammonaemia v0.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Trifunctional protein deficiency 609015 Tags treatable
Green Green List (high evidence)	HADHA Fatty Acid Oxidation Defects v1.15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes LCHAD deficiency, MIM# 609016 Tags treatable
Green Green List (high evidence)	HADHB Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Phenotypes Trifunctional protein deficiency MIM#609015 Tags treatable
Green Green List (high evidence)	HADHB Fatty Acid Oxidation Defects v1.15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Trifunctional protein deficiency, MIM# 609015 Tags treatable
Green Green List (high evidence)	HADHB Hyperammonaemia v0.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Trifunctional protein deficiency 609015 Tags treatable
Green Green List (high evidence)	HAMP Metal Metabolism Disorders v0.52	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS Genomic Medicine Service Expert Review Green Genomics England PanelApp Phenotypes 613313 Hemochromatosis, type 2B 613313 HEMOCHROMATOSIS, TYPE 2B HFE2B Tags
Green Green List (high evidence)	HAMP Monogenic Diabetes v0.202	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Hemochromatosis, type 2B 613313 Tags
Green Green List (high evidence)	HARS2 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Perrault syndrome 2, MIM# 614926 Tags
Green Green List (high evidence)	HCCS Mitochondrial disease v1.14	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 Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Phenotypes Linear skin defects with multiple congenital anomalies 1, MIM# 309801 Tags
Green Green List (high evidence)	HCFC1 Vitamin metabolism disorders v1.7	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature NHS GMS Phenotypes methylmalonic acidemia with homocystinuria, type cblX MONDO:0010657 disorder of cobalamin metabolism Tags
Green Green List (high evidence)	HEXA Lysosomal Storage Disorder v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes GM2-gangliosidosis, several forms, MIM# 272800 Tay-Sachs disease, MIM# 272800 MONDO:0010100 Tags
Green Green List (high evidence)	HEXB Lysosomal Storage Disorder v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, MIM# 268800 MONDO:0010006 Tags
Green Green List (high evidence)	HFE Monogenic Diabetes v0.202	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes haemochromatosis type 1 MONDO:0021001 Tags
Green Green List (high evidence)	HFE Metal Metabolism Disorders v0.52	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS Genomic Medicine Service Expert Review Green Genomics England PanelApp Phenotypes 235200 Hemochromatosis 235200 HEMOCHROMATOSIS, TYPE 1 235200HEMOCHROMATOSIS, TYPE 1 HFE1 Tags
Green Green List (high evidence)	HFE2 Metal Metabolism Disorders v0.52	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS Genomic Medicine Service Expert Review Green Genomics England PanelApp Phenotypes HFE2A 602390 HEMOCHROMATOSIS, TYPE 2A 602390 Hemochromatosis, type 2A Tags
Green Green List (high evidence)	HFE2 Monogenic Diabetes v0.202	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Hemochromatosis, type 2A, 602390 Tags new gene name
Green Green List (high evidence)	HGD Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes alkaptonuria MONDO:0008753 Tags
Green Green List (high evidence)	HGD Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Alkaptonuria MIM#203500 Disorders of phenylalanine or tyrosine metabolism Tags
Green Green List (high evidence)	HGSNAT Lysosomal Storage Disorder v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930 MONDO:0009657 Retinitis pigmentosa 73, MIM# 616544 MONDO:0014687 Tags
Green Green List (high evidence)	HIBCH Mitochondrial disease v1.14	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 Phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620 Tags
Green Green List (high evidence)	HIBCH Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes 3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO:0009603 Tags
Green Green List (high evidence)	HK1 Mitochondrial disease v1.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with visual defects and brain anomalies, MIM# 618547 Tags
Green Green List (high evidence)	HLCS Hyperammonaemia v0.10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert Review Green Victorian Clinical Genetics Services Phenotypes Holocarboxylase synthetase deficiency 253270 Tags treatable
Green Green List (high evidence)	HLCS Vitamin metabolism disorders v1.7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes Disorders of biotin metabolism holocarboxylase synthetase deficiency MONDO:0009666 Tags
Green Green List (high evidence)	HLCS Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Holocarboxylase synthetase deficiency, MIM# 253270 Tags treatable
Green Green List (high evidence)	HMBS Haem degradation and bilirubin metabolism defects v0.19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Porphyria, acute intermittent, 176000 Porphyria, acute intermittent, nonerythroid variant, 176000 Tags
Green Green List (high evidence)	HMGCL Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Phenotypes HMG-CoA lyase deficiency MIM#246450 Tags treatable
Green Green List (high evidence)	HMGCL Hyperammonaemia v0.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert Review Green Victorian Clinical Genetics Services Tags treatable
Green Green List (high evidence)	HMGCL Fatty Acid Oxidation Defects v1.15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes HMG-CoA lyase deficiency, MIM# 246450 Tags SV/CNV treatable
Green Green List (high evidence)	HMGCL Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes 3-hydroxy-3-methylglutaric aciduria MONDO:0009520 Tags treatable
Green Green List (high evidence)	HMGCS2 Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Phenotypes HMG-CoA synthase-2 deficiency MIM#605911 Tags
Green Green List (high evidence)	HMGCS2 Fatty Acid Oxidation Defects v1.15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes HMG-CoA synthase-2 deficiency, MIM# 605911 Tags
Green Green List (high evidence)	HMOX1 Haem degradation and bilirubin metabolism defects v0.19	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of haem degradation and bilirubin metabolism heme oxygenase 1 deficiency MONDO:0013536 Tags
Green Green List (high evidence)	HNF1A Monogenic Diabetes v0.202	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Phenotypes MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 Maturity-Onset Diabetes Of The Young MODY, type III, 600496 Maturity-onset diabetes of the young (MODY) MODY, type III, 600496{Diabetes mellitus, noninsulin-dependent, 2}, 125853{Diabetes mellitus, insulin-dependent}, 222100Hepatic adenoma, somatic, 142330Renal cell carcinoma, 144700Diabetes mellitus, insulin-dependent, 20, 612520 {Diabetes mellitus, noninsulin-dependent, 2}, 125853 Diabetes mellitus, insulin-dependent, 20, 612520 {Diabetes mellitus, insulin-dependent}, 222100 Maturity Onset Diabetes of the Young MODY3 Tags
Green Green List (high evidence)	HNF1B Monogenic Diabetes v0.202	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes renal cysts and diabetes syndrome MONDO:0007669 Tags SV/CNV
Green Green List (high evidence)	HNF4A Monogenic Diabetes v0.202	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young 616026 Maturity-Onset Diabetes Of The Young, Type 1 MODY1, 125850 {Diabetes mellitus, noninsulin-dependent}, 125853 Tags
Green Green List (high evidence)	HOGA1 Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes primary hyperoxaluria type 3 MONDO:0013327 Disorders of ornithine, proline and hydroxyproline metabolism Tags
Green Green List (high evidence)	HPD Aminoacidopathy v1.139	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes tyrosinemia type III MONDO:0010162 hawkinsinuria MONDO:0007700 Tags
Green Green List (high evidence)	HPD Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hawkinsinuria MIM#140350 Tyrosinemia, type III MIM#276710 Disorders of phenylalanine or tyrosine metabolism Tags
Green Green List (high evidence)	HPDL Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes 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 Nucleotide metabolism disorders v0.8	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Lesch-Nyhan syndrome MONDO:0010298 Disorders of purine metabolism Tags
Green Green List (high evidence)	HPS1 Lysosomal Storage Disorder v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hermansky-Pudlak syndrome 1, MIM# 203300 Tags
Green Green List (high evidence)	HS2ST1 Miscellaneous Metabolic Disorders v1.60	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes 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 v1.14	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 Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Phenotypes HSD10 mitochondrial disease, MIM# 300438 Tags
Green Green List (high evidence)	HSD17B10 Fatty Acid Oxidation Defects v1.15	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 Phenotypes HSD10 mitochondrial disease, MIM# 300438 Tags
Green Green List (high evidence)	HSD17B4 Peroxisomal Disorders v0.61	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes D-bifunctional protein deficiency, AR (MIM#261515) Perrault syndrome 1, AR (MIM#233400) Tags
Green Green List (high evidence)	HSD3B7 Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Bile acid synthesis defect, congenital, 1 MIM#607765 Disorders of bile acid biosynthesis Tags
Green Green List (high evidence)	HSPA9 Mitochondrial disease v1.14	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Anaemia, sideroblastic, 4, MIM# 182170 Even-plus syndrome, MIM# 616854 Tags
Green Green List (high evidence)	HSPD1 Mitochondrial disease v1.14	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 Phenotypes Leukodystrophy, hypomyelinating, 4, MIM# 612233 Spastic paraplegia 13, autosomal dominant, MIM# 605280 Tags
Green Green List (high evidence)	HTRA2 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes 3-methylglutaconic aciduria, type VIII, MIM# 617248 Tags
Green Green List (high evidence)	IARS2 Mitochondrial disease v1.14	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 Phenotypes Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, MIM# 616007 Tags
Green Green List (high evidence)	IBA57 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Multiple mitochondrial dysfunctions syndrome 3, MIM# 615330 Tags
Green Green List (high evidence)	IDH2 Mitochondrial disease v1.14	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes D-2-hydroxyglutaric aciduria 2 MIM#613657 Tags
Green Green List (high evidence)	IDH3A Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Retinitis pigmentosa 90, MIM#619007 Tags
Green Green List (high evidence)	IDH3G Mitochondrial disease v1.14	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Literature Phenotypes Retinitis pigmentosa 99, MIM# 301148 Tags
Green Green List (high evidence)	IDS Lysosomal Storage Disorder v1.27	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mucopolysaccharidosis II, MIM# 309900 MONDO:0010674 Hunter syndrome Tags treatable
Green Green List (high evidence)	IDUA Lysosomal Storage Disorder v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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 Monogenic Diabetes v0.202	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647 Tags
Green Green List (high evidence)	IFIH1 Nucleotide metabolism disorders v0.8	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 Expert Review Victorian Clinical Genetics Services Phenotypes Disorders of ectonucleotide and nucleic acid metabolism Aicardi-Goutieres syndrome 7, MIM#615846 Early-onset Inflammatory Bowel Disease Tags
Green Green List (high evidence)	IL2RA Monogenic Diabetes v0.202	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Review Phenotypes Neoantal diabetes, congenital hypothyrodism (multiple autoimmune) Recessive {Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942 insulin-dependent diabetes mellitus at 8-weeks IPEX-like syndrome neonatal diabetes Tags
Green Green List (high evidence)	IMPDH1 Nucleotide metabolism disorders v0.8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Disorders of purine metabolism retinitis pigmentosa MONDO:0019200 Tags
Green Green List (high evidence)	INS Monogenic Diabetes v0.202	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes diabetes mellitus, permanent neonatal 4 MONDO:0030089 maturity-onset diabetes of the young type 10 MONDO:0013240 Tags
Green Green List (high evidence)	INSR Monogenic Diabetes v0.202	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes insulin-resistance syndrome type A MONDO:0012520 Rabson-Mendenhall syndrome MONDO:0009874 Donohue syndrome MONDO:0009517 Tags
Green Green List (high evidence)	Chromosome 17q12 deletion syndrome ISCA-37432-Loss Region Monogenic Diabetes v0.202	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Expert list Phenotypes Chromosome 17q12 deletion syndrome MIM#614527 Renal cysts and diabetes (RCAD) syndrome Tags
Green Green List (high evidence)	2p21 deletion syndrome ISCA-37440-Loss Region Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert list Phenotypes 2p21 deletion syndrome Hypotonia-cystinuria syndrome, MIM# 606407 Tags
Green Green List (high evidence)	2p21 deletion syndrome ISCA-37440-Loss Region Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert list Phenotypes 2p21 deletion syndrome Hypotonia-cystinuria syndrome, MIM# 606407 Tags
Green Green List (high evidence)	Chromosome 6q24-related transient diabetes mellitus, neonatal ISCA-37442-Gain Region Monogenic Diabetes v0.202	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Expert Review Green Expert list Phenotypes Diabetes mellitus, transient neonatal 1, MIM# 601410 Tags SV/CNV
Green Green List (high evidence)	ISCA1 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613 Tags
Green Green List (high evidence)	ISCA2 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Multiple mitochondrial dysfunctions syndrome 4, MIM# 616370 Tags
Green Green List (high evidence)	ISCU Mitochondrial disease v1.14	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 Phenotypes Myopathy with lactic acidosis, hereditary, MIM# 255125 Tags
Green Green List (high evidence)	ISPD Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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)	ITCH Monogenic Diabetes v0.202	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245 Tags founder
Green Green List (high evidence)	ITPA Nucleotide metabolism disorders v0.8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Disorders of purine metabolism Inosine triphosphatase deficiency MIM#613850 Developmental and epileptic encephalopathy 35 MIM#616647 Tags
Green Green List (high evidence)	ITPA Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Inosine triphosphatase deficiency MIM#613850 Developmental and epileptic encephalopathy 35 MIM#616647 Disorders of purine metabolism Tags
Green Green List (high evidence)	IVD Hyperammonaemia v0.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Isovaleric acidaemia, MIM# 243500 Tags treatable
Green Green List (high evidence)	IVD Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes isovaleric acidemia MONDO:0009475 Tags treatable
Green Green List (high evidence)	KARS Mitochondrial disease v1.14	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 Phenotypes 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)	KCNJ10 Metal Metabolism Disorders v0.52	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes EAST syndrome MONDO:0013005, SESAME syndrome, MIM# 612780 Disorders of magnesium metabolism Tags
Green Green List (high evidence)	KCNJ11 Monogenic Diabetes v0.202	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes permanent neonatal diabetes mellitus MONDO:0100164 Tags
Green Green List (high evidence)	KCTD7 Lysosomal Storage Disorder v1.27	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Progressive myoclonus epilepsy MONDO:0020074 Neuronal ceroid lipofuscinosis Tags
Green Green List (high evidence)	KIAA0391 Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 54, MIM# 619737 Tags new gene name
Green Green List (high evidence)	KYNU Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes vertebral, cardiac, renal, and limb defects syndrome 2 MONDO:0060555 Tags
Green Green List (high evidence)	KYNU Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes 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)	L2HGDH Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes L-2-hydroxyglutaric aciduria, MIM#236792 Tags
Green Green List (high evidence)	L2HGDH Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes L-2-hydroxyglutaric aciduria MIM#236792 organic acidurias Tags
Green Green List (high evidence)	LAMP2 Lysosomal Storage Disorder v1.27	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 Phenotypes Danon disease, MIM# 300257 MONDO:0010281 Tags
Green Green List (high evidence)	LAMP2 Glycogen Storage Diseases v1.4	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 Phenotypes Danon disease, MIM# 300257 Tags
Green Green List (high evidence)	LARGE1 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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)	LARS Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Infantile liver failure syndrome 1 MIM#615438 disorder of leucine metabolism Tags
Green Green List (high evidence)	LARS2 Mitochondrial disease v1.14	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 Phenotypes Perrault syndrome 4 Hydrops, lactic acidosis, and sideroblastic anaemia, MIM# 617021 Leukodystrophy Tags
Green Green List (high evidence)	LBR Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Greenberg skeletal dysplasia MIM#215140 Disorders of sterol biosynthesis Tags
Green Green List (high evidence)	LCAT Dyslipidaemia v0.47	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Fish-eye disease MIM#136120 Norum disease MIM#245900 Disorders of high density lipoprotein metabolism Tags
Green Green List (high evidence)	LCT Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Lactase deficiency, congenital MIM#223000 Other carbohydrate disorders Tags
Green Green List (high evidence)	LDHA Glycogen Storage Diseases v1.4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycogen storage disease XI, MIM# 612933 Tags SV/CNV
Green Green List (high evidence)	LDHD Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes D-lactic aciduria with susceptibility to gout MIM#245450 Tags
Green Green List (high evidence)	LDLR Dyslipidaemia v0.47	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Hypercholesterolemia Tags
Green Green List (high evidence)	LDLRAP1 Dyslipidaemia v0.47	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hypercholesterolemia, familial, 4, MIM# 603813 Tags
Green Green List (high evidence)	LETM1 Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089 Tags
Green Green List (high evidence)	LFNG Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spondylocostal dysostosis 3, autosomal recessive, MIM# 609813 Tags
Green Green List (high evidence)	LIAS Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Hyperglycinaemia, lactic acidosis, and seizures, MIM# 614462 Tags
Green Green List (high evidence)	LIG3 Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780 Tags
Green Green List (high evidence)	LIPA Dyslipidaemia v0.47	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Wolman disease, Cholesterol ester storage disease Tags
Green Green List (high evidence)	LIPA Lysosomal Storage Disorder v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cholesteryl ester storage disease, MIM# 278000 Wolman disease, MIM# 278000 Lysosomal acid lipase deficiency, MONDO:0010204 Tags treatable
Green Green List (high evidence)	LIPC Dyslipidaemia v0.47	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hepatic lipase deficiency MIM#614025 Inherited mixed hyperlipidaemias hyperalphalipoproteinemia Tags
Green Green List (high evidence)	LIPE Monogenic Diabetes v0.202	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Phenotypes LIPE-related familial partial lipodystrophy, MONDO:0014431 Tags
Green Green List (high evidence)	LIPT1 Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Lipoyltransferase 1 deficiency, MIM#616299 Leigh-like presentation Tags
Green Green List (high evidence)	LIPT2 Mitochondrial disease v1.14	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 Phenotypes Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM# 617668 Tags
Green Green List (high evidence)	LMBRD1 Vitamin metabolism disorders v1.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Methylmalonic aciduria and homocystinuria, cblF type MIM#277380 Disorders of cobalamin absorption, transport and metabolism Tags treatable
Green Green List (high evidence)	LMBRD1 Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes methylmalonic aciduria and homocystinuria type cblF MONDO:0010183 Tags
Green Green List (high evidence)	LMF1 Dyslipidaemia v0.47	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Combined lipase deficiency Tags
Green Green List (high evidence)	LMNA Monogenic Diabetes v0.202	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Phenotypes Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Severe insulin resistance, partial lipodystrophy and diabetes FPLD2 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2 Lipodystrophy, familial partial, 2, 151660 Tags
Green Green List (high evidence)	LONP1 Mitochondrial disease v1.14	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 Phenotypes CODAS syndrome, MIM#600373 mitochondrial disease (MONDO:0044970), LONP1-related Tags
Green Green List (high evidence)	LPIN1 Fatty Acid Oxidation Defects v1.15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myoglobinuria, acute recurrent, autosomal recessive, MIM# 268200 Tags
Green Green List (high evidence)	LPL Dyslipidaemia v0.47	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Lipoprotein lipase deficiency, Hyperlipoproteinemia, Combined hyperlipidemia, familial Tags
Green Green List (high evidence)	LRAT Vitamin metabolism disorders v1.7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Leber congenital amaurosis 14 Tags
Green Green List (high evidence)	LRBA Monogenic Diabetes v0.202	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Immunodeficiency, common variable, 8, with autoimmunity Tags
Green Green List (high evidence)	LRPPRC Mitochondrial disease v1.14	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 Phenotypes Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) MIM#220111 Tags
Green Green List (high evidence)	LYRM7 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex III deficiency, nuclear type 8 - MIM#615838 Tags
Green Green List (high evidence)	MAGT1 Congenital Disorders of Glycosylation v1.82	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes 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 v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal recessive 15, MIM#614202 Tags
Green Green List (high evidence)	MAN2B1 Lysosomal Storage Disorder v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mannosidosis, alpha-, types I and II, MIM# 248500 MONDO:0009561 Tags treatable
Green Green List (high evidence)	MAN2B2 Congenital Disorders of Glycosylation v1.82	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation type 1EE with or without immunodeficiency, MIM# 621140 Tags
Green Green List (high evidence)	MANBA Lysosomal Storage Disorder v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mannosidosis, beta, MIM# 248510 MONDO:0009562 Tags
Green Green List (high evidence)	MAOA Neurotransmitter Defects v1.8	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Brunner syndrome, MIM# 300615 Tags
Green Green List (high evidence)	MAT1A Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes methionine adenosyltransferase deficiency MONDO:0009607 Tags
Green Green List (high evidence)	MAT1A Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes 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)	MCCC1 Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200 Organic acidurias Tags
Green Green List (high evidence)	MCCC1 Aminoacidopathy v1.139	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Phenotypes 3-methylcrotonyl-CoA carboxylase deficiency MONDO:0018950 Tags
Green Green List (high evidence)	MCCC2 Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes 3-Methylcrotonyl-CoA carboxylase 2 deficiency MIM#210210 Organic acidurias Tags
Green Green List (high evidence)	MCCC2 Aminoacidopathy v1.139	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Phenotypes 3-methylcrotonyl-CoA carboxylase deficiency MONDO:0018950 Tags
Green Green List (high evidence)	MCEE Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency MONDO:0009615 Tags
Green Green List (high evidence)	MCEE Vitamin metabolism disorders v1.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency MONDO:0009615 Tags
Green Green List (high evidence)	MCEE Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Methylmalonyl-CoA epimerase deficiency MIM#251120 Organic acidurias Tags
Green Green List (high evidence)	MCOLN1 Lysosomal Storage Disorder v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mucolipidosis IV, MIM# 252650 MONDO:0009653 Tags SV/CNV
Green Green List (high evidence)	MDH2 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Developmental and epileptic encephalopathy 51 MIM#617339 Tags
Green Green List (high evidence)	MECR Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282 MONDO:0015003 Tags
Green Green List (high evidence)	MFF Mitochondrial disease v1.14	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 Phenotypes Encephalopathy due to defective mitochondrial and peroxisomal fission 2, MIM# 617086 Tags
Green Green List (high evidence)	MFN2 Mitochondrial disease v1.14	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 Phenotypes 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 Monogenic Diabetes v0.202	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes Multiple symmetric lipomatosis with partial lipodystrophy, MONDO:1060153 Tags
Green Green List (high evidence)	MFSD8 Lysosomal Storage Disorder v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ceroid lipofuscinosis, neuronal, 7, MIM# 610951 MONDO:0012588 Macular dystrophy with central cone involvement, MIM# 616170 MONDO:0014515 Tags
Green Green List (high evidence)	MGAT2 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIa, MIM# 212066 MGAT2-CDG, MONDO:0008908 Tags
Green Green List (high evidence)	MGME1 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial DNA depletion syndrome 11, MIM# 615084 Tags
Green Green List (high evidence)	MIA3 Monogenic Diabetes v0.202	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ondontochondrodysplasia 2 with hearing loss and diabetes , MIM#619269 Tags
Green Green List (high evidence)	MICU1 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Myopathy with extrapyramidal signs, MIM# 615673 Tags founder
Green Green List (high evidence)	MIPEP Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Combined oxidative phosphorylation deficiency 31, MIM# 617228 Tags
Green Green List (high evidence)	MLYCD Hyperammonaemia v0.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert Review Green Victorian Clinical Genetics Services Phenotypes Malonyl-CoA decarboxylase deficiency 248360 malonic aciduria Tags treatable
Green Green List (high evidence)	MLYCD Fatty Acid Oxidation Defects v1.15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Malonyl-CoA decarboxylase deficiency, MIM# 248360 Tags treatable
Green Green List (high evidence)	MMAA Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes methylmalonic aciduria, cblA type MONDO:0009613 Tags treatable
Green Green List (high evidence)	MMAA Hyperammonaemia v0.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Methylmalonic aciduria, vitamin B12-responsive 251100 Tags treatable
Green Green List (high evidence)	MMAA Vitamin metabolism disorders v1.7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of cobalamin metabolism methylmalonic aciduria, cblA type MONDO:0009613 Tags
Green Green List (high evidence)	MMAB Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes methylmalonic aciduria, cblB type MONDO:0009614 Tags treatable
Green Green List (high evidence)	MMAB Vitamin metabolism disorders v1.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes methylmalonic aciduria, cblB type MONDO:0009614 Tags
Green Green List (high evidence)	MMAB Hyperammonaemia v0.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type 251110 Tags treatable
Green Green List (high evidence)	MMACHC Vitamin metabolism disorders v1.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Methylmalonic aciduria and homocystinuria, cblC type MIM#277400 Disorders of cobalamin absorption, transport and metabolism Tags treatable
Green Green List (high evidence)	MMACHC Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes methylmalonic aciduria and homocystinuria type cblC MONDO:0010184 Tags
Green Green List (high evidence)	MMADHC Vitamin metabolism disorders v1.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Homocystinuria, cblD type, variant 1 MIM#277410 Methylmalonic aciduria and homocystinuria, cblD type MIM#277410 Methylmalonic aciduria, cblD type, variant 2 MIM#277410 Disorders of cobalamin absorption, transport and metabolism Tags treatable
Green Green List (high evidence)	MMADHC Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes methylmalonic aciduria and homocystinuria type cblD MONDO:0010185 Tags treatable
Green Green List (high evidence)	MNX1 Monogenic Diabetes v0.202	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Permanent neonatal diabetes mellitus, MONDO:0100164, MNX1-related Tags
Green Green List (high evidence)	MOCOS Metal Metabolism Disorders v0.52	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of molybdenum cofactor metabolism xanthinuria type II MONDO:0011346 Tags
Green Green List (high evidence)	MOCS1 Metal Metabolism Disorders v0.52	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of molybdenum cofactor metabolism sulfite oxidase deficiency due to molybdenum cofactor deficiency type A MONDO:0009643 Tags
Green Green List (high evidence)	MOCS1 Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Molybdenum cofactor deficiency A MIM#252150 Disorders of molybdenum cofactor metabolism Tags treatable
Green Green List (high evidence)	MOCS2 Metal Metabolism Disorders v0.52	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes sulfite oxidase deficiency due to molybdenum cofactor deficiency type B MONDO:0009644 Disorders of molybdenum cofactor metabolism Tags
Green Green List (high evidence)	MOCS2 Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Molybdenum cofactor deficiency B MIM#252160 Disorders of molybdenum cofactor metabolism Tags
Green Green List (high evidence)	MOGS Congenital Disorders of Glycosylation v1.82	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIb, MIM# 606056 Tags
Green Green List (high evidence)	MORC2 Mitochondrial disease v1.14	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes 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 v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial pyruvate carrier deficiency, MIM# 614741 Tags
Green Green List (high evidence)	MPDU1 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type If, MIM# 609180 MPDU1-CDG, MONDO:0012211 Tags
Green Green List (high evidence)	MPI Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ib, MIM# 602579 MPI-CDG MONDO:0011257 Tags
Green Green List (high evidence)	MPV17 Mitochondrial disease v1.14	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 Phenotypes Charcot-Marie-Tooth disease, axonal, type 2EE, MIM# 618400 Tags
Green Green List (high evidence)	MRM2 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial DNA depletion syndrome 17, MIM# 618567 Tags
Green Green List (high evidence)	MRPL3 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 9 OMIM #614582 Tags
Green Green List (high evidence)	MRPL39 Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency-59 (COXPD59), MIM#620646 Tags
Green Green List (high evidence)	MRPL44 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 16, MIM# 615395 Tags
Green Green List (high evidence)	MRPL49 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 60, MIM# 621195 Tags
Green Green List (high evidence)	MRPS2 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 36, MIM# 617950 Tags
Green Green List (high evidence)	MRPS22 Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 5, MIM# 611719 Tags
Green Green List (high evidence)	MRPS23 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes 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 v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 32, MIM# 617664 Tags
Green Green List (high evidence)	MSMO1 Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834 Disorders of the metabolism of sterols MONDO:0014793 Tags
Green Green List (high evidence)	MSTO1 Mitochondrial disease v1.14	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert list Phenotypes Myopathy, mitochondrial, and ataxia, MIM# 617675 Tags
Green Green List (high evidence)	MT-ATP6 Mitochondrial disease v1.14	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP6-related Tags mtDNA
Green Green List (high evidence)	MT-CO1 Mitochondrial disease v1.14	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO1-related Tags mtDNA
Green Green List (high evidence)	MT-CO2 Mitochondrial disease v1.14	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO2-related Tags mtDNA
Green Green List (high evidence)	MT-CO3 Mitochondrial disease v1.14	2 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Literature Phenotypes Mitochondrial disease MONDO:0044970, MT-CO3-related Tags mtDNA
Green Green List (high evidence)	MT-CYB Mitochondrial disease v1.14	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CYB-related Tags mtDNA
Green Green List (high evidence)	MT-ND1 Mitochondrial disease v1.14	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-ND1-related Tags mtDNA
Green Green List (high evidence)	MT-ND2 Mitochondrial disease v1.14	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Mitochondrial disease (MONDO:0044970), MT-ND2-related Tags mtDNA
Green Green List (high evidence)	MT-ND3 Mitochondrial disease v1.14	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Mitochondrial disease (MONDO:0044970), MT-ND3-related Tags mtDNA
Green Green List (high evidence)	MT-ND4 Mitochondrial disease v1.14	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Mitochondrial disease (MONDO:0044970), MT-ND4-related Tags mtDNA
Green Green List (high evidence)	MT-ND5 Mitochondrial disease v1.14	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Mitochondrial disease (MONDO:0044970), MT-ND5-related Tags mtDNA
Green Green List (high evidence)	MT-ND6 Mitochondrial disease v1.14	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Mitochondrial disease (MONDO:0044970), MT-ND6-related Tags mtDNA
Green Green List (high evidence)	MT-RNR1 Mitochondrial disease v1.14	2 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Mitochondrial disease (MONDO:0044970), MT-RNR1-related Tags mtDNA
Green Green List (high evidence)	MT-TA Mitochondrial disease v1.14	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Mitochondrial disease (MONDO:0044970), MT-TA-related Tags mtDNA
Green Green List (high evidence)	MT-TD Mitochondrial disease v1.14	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Mitochondrial disease (MONDO:0044970), MT-TD-related Tags mtDNA
Green Green List (high evidence)	MT-TE Mitochondrial disease v1.14	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Mitochondrial disease (MONDO:0044970), MT-TE-related Tags mtDNA
Green Green List (high evidence)	MT-TF Mitochondrial disease v1.14	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Mitochondrial disease (MONDO:0044970), MT-TF-related Tags mtDNA
Green Green List (high evidence)	MT-TG Mitochondrial disease v1.14	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Mitochondrial disease (MONDO:0044970), MT-TG-related Tags mtDNA
Green Green List (high evidence)	MT-TH Mitochondrial disease v1.14	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Mitochondrial disease (MONDO:0044970), MT-TH-related Tags mtDNA
Green Green List (high evidence)	MT-TI Mitochondrial disease v1.14	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Mitochondrial disease (MONDO:0044970), MT-TI-related Tags mtDNA
Green Green List (high evidence)	MT-TK Mitochondrial disease v1.14	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes MERRF Encephalopathy Deafness Cardiomyopathy Tags mtDNA
Green Green List (high evidence)	MT-TL1 Monogenic Diabetes v0.202	2 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Phenotypes Mitochondrial disease (MONDO:0044970), MT-TL1-related Tags mtDNA
Green Green List (high evidence)	MT-TL1 Mitochondrial disease v1.14	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Mitochondrial disease (MONDO:0044970), MT-TL1-related Tags mtDNA
Green Green List (high evidence)	MT-TL2 Mitochondrial disease v1.14	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Mitochondrial disease (MONDO:0044970), MT-TL2-related Tags mtDNA
Green Green List (high evidence)	MT-TM Mitochondrial disease v1.14	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes mitochondrial disease (MONDO:0044970), MT-TM-related Tags mtDNA
Green Green List (high evidence)	MT-TN Mitochondrial disease v1.14	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Mitochondrial myopathy Tags
Green Green List (high evidence)	MT-TP Mitochondrial disease v1.14	2 reviews 1 green	MITOCHONDRIAL	Sources Expert Review Red Expert Review Green Expert list Phenotypes Mitochondrial disease (MONDO:0044970), MT-TP-related Tags mtDNA
Green Green List (high evidence)	MT-TR Mitochondrial disease v1.14	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes mitochondrial disease (MONDO:0044970), MT-TR-related Tags mtDNA
Green Green List (high evidence)	MT-TS1 Mitochondrial disease v1.14	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Mitochondrial disease (MONDO:0044970), MT-TS1-related Tags mtDNA
Green Green List (high evidence)	MT-TS2 Mitochondrial disease v1.14	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Mitochondrial disease (MONDO:0044970), MT-TS2-related Tags mtDNA
Green Green List (high evidence)	MT-TT Mitochondrial disease v1.14	2 reviews 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Mitochondrial disease (MONDO:0044970), MT-TT-related Tags mtDNA
Green Green List (high evidence)	MT-TV Mitochondrial disease v1.14	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Mitochondrial disease (MONDO:0044970), MT-TV-related Tags mtDNA
Green Green List (high evidence)	MT-TW Mitochondrial disease v1.14	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Mitochondrial disease (MONDO:0044970), MT-TW-related Tags mtDNA
Green Green List (high evidence)	MT-TY Mitochondrial disease v1.14	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Mitochondrial disease (MONDO:0044970), MT-TY-related Tags mtDNA somatic
Green Green List (high evidence)	MTFMT Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 15, MIM# 614947 Mitochondrial complex I deficiency, nuclear type 27, MIM# 618248 Tags
Green Green List (high evidence)	MTHFD1 Vitamin metabolism disorders v1.7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia MONDO:0060611 Disorders of folate metabolism Tags
Green Green List (high evidence)	MTHFR Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes homocystinuria due to methylene tetrahydrofolate reductase deficiency MONDO:0009353 Tags
Green Green List (high evidence)	MTHFR Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Homocystinuria due to MTHFR deficiency MIM#236250 Disorders of folate metabolism and transport Tags
Green Green List (high evidence)	MTHFR Vitamin metabolism disorders v1.7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Homocystinuria due to methylene tetrahydrofolate reductase deficiency MONDO:0009353 Disorders of folate metabolism Tags
Green Green List (high evidence)	MTO1 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 10, OMIM #614702 Tags
Green Green List (high evidence)	MTPAP Mitochondrial disease v1.14	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 Phenotypes Spastic ataxia 4, autosomal recessive 613672 Lethal encephalopathy Tags founder
Green Green List (high evidence)	MTR Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes methylcobalamin deficiency type cblG MONDO:0009609 Tags
Green Green List (high evidence)	MTR Vitamin metabolism disorders v1.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Homocystinuria-megaloblastic anemia, cblG complementation type MIM#250940 Organic aciduria Tags
Green Green List (high evidence)	MTRR Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Homocystinuria-megaloblastic anemia, cbl E type MIM#236270 Disorders of the metabolism of sulphur amino acids Tags
Green Green List (high evidence)	MTRR Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes methylcobalamin deficiency type cblE MONDO:0009354 Tags
Green Green List (high evidence)	MTRR Vitamin metabolism disorders v1.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Homocystinuria-megaloblastic anemia, cbl E type MIM#236270 Disorders of the metabolism of sulphur amino acids Tags
Green Green List (high evidence)	MTTP Dyslipidaemia v0.47	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Abetalipoproteinemia MIM#200100 Inherited hypolipidaemias Tags treatable
Green Green List (high evidence)	MTX2 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mandibuloacral dysplasia progeroid syndrome, MIM# 619127 Tags
Green Green List (high evidence)	MUT Hyperammonaemia v0.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Methylmalonic aciduria, mut(0) type 251000 Tags
Green Green List (high evidence)	MUT Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MONDO:0009612 Tags
Green Green List (high evidence)	MUT Vitamin metabolism disorders v1.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MONDO:0009612 Tags
Green Green List (high evidence)	MVK Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mevalonic aciduria MIM#610377 Disorders of sterol biosynthesis Tags
Green Green List (high evidence)	NADK2 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes 2,4-dienoyl-CoA reductase deficiency, MIM# 616034 Tags
Green Green List (high evidence)	NADK2 Vitamin metabolism disorders v1.7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of niacin and NAD metabolism 2,4-dienoyl-CoA reductase deficiency, MIM# 616034 Tags
Green Green List (high evidence)	NADK2 Fatty Acid Oxidation Defects v1.15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes 2,4-dienoyl-CoA reductase deficiency, MIM# 616034 Tags
Green Green List (high evidence)	NAGA Lysosomal Storage Disorder v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Kanzaki disease, MIM# 609242 Schindler disease, type I and type II 609241 alpha-N-acetylgalactosaminidase deficiency MONDO:0017779 Tags
Green Green List (high evidence)	NAGLU Lysosomal Storage Disorder v1.27	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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)	NAGS Hyperammonaemia v0.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes N-acetylglutamate synthase deficiency 237310 Tags
Green Green List (high evidence)	NAGS Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes hyperammonemia due to N-acetylglutamate synthase deficiency MONDO:0009377 Tags
Green Green List (high evidence)	NARS2 Mitochondrial disease v1.14	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 24 - MIM#616239 Deafness, autosomal recessive 94 - MIM#618434 Tags
Green Green List (high evidence)	NAXD Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321 Tags
Green Green List (high evidence)	NAXD Vitamin metabolism disorders v1.7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of niacin and NAD metabolism Mitochondrial disease MONDO:0044970 Tags
Green Green List (high evidence)	NAXE Vitamin metabolism disorders v1.7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Apolipoprotein A-I binding protein deficiency Disorders of niacin and NAD metabolism Tags
Green Green List (high evidence)	NAXE Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, MIM# 617186 Tags
Green Green List (high evidence)	NDUFA1 Mitochondrial disease v1.14	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 Phenotypes Mitochondrial complex I deficiency, nuclear type 12 MIM#301020 Tags
Green Green List (high evidence)	NDUFA10 Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 22 - MIM#618243 Tags
Green Green List (high evidence)	NDUFA12 Mitochondrial disease v1.14	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 23 618244 Tags
Green Green List (high evidence)	NDUFA13 Mitochondrial disease v1.14	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 28, MIM# 618249 Tags
Green Green List (high evidence)	NDUFA2 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235 Tags
Green Green List (high evidence)	NDUFA3 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial disease, MONDO:0044970,NDUFA3-related Tags
Green Green List (high evidence)	NDUFA4 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex IV deficiency, nuclear type 21, MIM#619065 Leigh syndrome Tags new gene name
Green Green List (high evidence)	NDUFA6 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Mitochondrial complex I deficiency, nuclear type 33, MIM# 618253 Tags
Green Green List (high evidence)	NDUFA9 Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 26 Tags
Green Green List (high evidence)	NDUFAF1 Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 11 - MIM#618234 Tags
Green Green List (high evidence)	NDUFAF2 Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 10 - MIM#618233 Tags
Green Green List (high evidence)	NDUFAF3 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 18 - MIM#618240 Tags
Green Green List (high evidence)	NDUFAF4 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 15 - MIM#618237 Tags
Green Green List (high evidence)	NDUFAF5 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 3 MIM#618224 Tags
Green Green List (high evidence)	NDUFAF6 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 17 (MIM#618239) Tags
Green Green List (high evidence)	NDUFAF8 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Leigh syndrome Tags
Green Green List (high evidence)	NDUFB10 Mitochondrial disease v1.14	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes fatal infantile lactic acidosis cardiomyopathy Mitochondrial complex I deficiency nuclear type 35 (MC1DN35), MIM#619003 Tags
Green Green List (high evidence)	NDUFB11 Mitochondrial disease v1.14	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 Phenotypes 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 v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 25, MIM# 618246 MONDO:0032629 Tags
Green Green List (high evidence)	NDUFB7 Mitochondrial disease v1.14	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial complex I deficiency nuclear type 39 (MC1DN39), MIM#620135 Tags
Green Green List (high evidence)	NDUFB8 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 32 - MIM#618252 Tags
Green Green List (high evidence)	NDUFS1 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226 Tags
Green Green List (high evidence)	NDUFS2 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228 Tags
Green Green List (high evidence)	NDUFS3 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230 Tags
Green Green List (high evidence)	NDUFS4 Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 1, 252010 Leigh syndrome, MIM#252010 Tags
Green Green List (high evidence)	NDUFS6 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 9 - MIM#618232 Tags
Green Green List (high evidence)	NDUFS7 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 3 (MIM# 618224) Tags
Green Green List (high evidence)	NDUFS8 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 2 MIM#618222 Tags
Green Green List (high evidence)	NDUFV1 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 4 MIM#618225 Tags
Green Green List (high evidence)	NDUFV2 Mitochondrial disease v1.14	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 7 (MIM#618229) Tags deep intronic founder
Green Green List (high evidence)	NEU1 Lysosomal Storage Disorder v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Sialidosis, type I and type II, MIM# 256550 MONDO:0009738 Tags
Green Green List (high evidence)	NEUROD1 Monogenic Diabetes v0.202	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Monogenic diabetes, MONDO:0015967 Tags
Green Green List (high evidence)	NEUROG3 Monogenic Diabetes v0.202	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes congenital malabsorptive diarrhea 4 MONDO:0012479 Tags
Green Green List (high evidence)	NFE2L2 Aminoacidopathy v1.139	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Immunodeficiency, developmental delay, and hypohomocysteinemia MONDO:0060591 Disorders of glutathione metabolism Tags
Green Green List (high evidence)	NFS1 Mitochondrial disease v1.14	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 52, MIM#619386 Complex II/III deficiency multisystem organ failure Tags
Green Green List (high evidence)	NFU1 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711 Tags
Green Green List (high evidence)	NGLY1 Congenital Disorders of Glycosylation v1.82	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of deglycosylation, MIM# 615273 alacrima, movement disorder, microcephaly, abnormal LFTs Tags
Green Green List (high evidence)	NHLRC1 Glycogen Storage Diseases v1.4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy, progressive myoclonic 2B (Lafora) 254780 Tags
Green Green List (high evidence)	NKX2-2 Monogenic Diabetes v0.202	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Syndromic neonatal diabetes, with severe developmental delay, hypotonia, cortical blindness, hearing impairment Tags
Green Green List (high evidence)	NMNAT1 Vitamin metabolism disorders v1.7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of niacin and NAD metabolism Leber congenital amaurosis 9 MONDO:0012056 Tags
Green Green List (high evidence)	NNT Mitochondrial disease v1.14	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency MIM#614736 Tags
Green Green List (high evidence)	NNT Vitamin metabolism disorders v1.7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of niacin and NAD metabolism glucocorticoid deficiency 4 MONDO:0013874 Tags
Green Green List (high evidence)	NPC1 Lysosomal Storage Disorder v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Niemann-Pick disease, type C1 and type D, MIM# 257220 MONDO:0009757 Tags
Green Green List (high evidence)	NPC2 Lysosomal Storage Disorder v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Niemann-pick disease, type C2, MIM# 607625 MONDO:0011873 Tags
Green Green List (high evidence)	NR1H4 Haem degradation and bilirubin metabolism defects v0.19	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of bile acid metabolism cholestasis, progressive familial intrahepatic, 5 MONDO:0014884 Tags
Green Green List (high evidence)	NSDHL Miscellaneous Metabolic Disorders v1.60	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 NHS GMS Phenotypes CHILD syndrome MIM#308050 Disorders of sterol biosynthesis Tags
Green Green List (high evidence)	NSUN3 Mitochondrial disease v1.14	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 48, MIM# 619012 Tags
Green Green List (high evidence)	NT5C3A Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Anemia, hemolytic, due to UMPH1 deficiency MIM#266120 disorder of pyrimidine metabolism Tags
Green Green List (high evidence)	NT5C3A Nucleotide metabolism disorders v0.8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes disorder of pyrimidine metabolism Anemia, hemolytic, due to UMPH1 deficiency MIM#266120 Tags
Green Green List (high evidence)	NT5E Nucleotide metabolism disorders v0.8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Disorders of ectonucleotide and nucleic acid metabolism hereditary arterial and articular multiple calcification syndrome MONDO:0008895 Tags
Green Green List (high evidence)	NUBPL Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 21 - MIM#618242 Tags
Green Green List (high evidence)	OAS1 Nucleotide metabolism disorders v0.8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Disorders of ectonucleotide and nucleic acid metabolism pulmonary alveolar proteinosis with hypogammaglobulinemia MONDO:0020840 Tags
Green Green List (high evidence)	OAT Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Gyrate atrophy of choroid and retina with or without ornithinemia - MIM#258870 Tags
Green Green List (high evidence)	OAT Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes ornithine aminotransferase deficiency MONDO:0009796 Tags
Green Green List (high evidence)	OGDH Mitochondrial disease v1.14	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Oxoglutarate dehydrogenase deficiency, MIM# 203740 Developmental delay ataxia seizure raised lactate Tags
Green Green List (high evidence)	OGT Congenital Disorders of Glycosylation v1.82	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Phenotypes Mental retardation, X-linked 106, MIM# 300997 Tags
Green Green List (high evidence)	ONECUT1 Monogenic Diabetes v0.202	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Syndromic diabetes Neonatal diabetes mellitus MONDO:0016391 Tags
Green Green List (high evidence)	OPA1 Mitochondrial disease v1.14	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes OPA1-related optic atrophy with or without extraocular features, MONDO:0800181 Tags
Green Green List (high evidence)	OPA3 Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes 3-methylglutaconic aciduria type 3 MONDO:0009787 Tags
Green Green List (high evidence)	OPA3 Mitochondrial disease v1.14	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 Phenotypes 3-methylglutaconic aciduria, type III (MGA3) (MIM#258501), AR Optic atrophy 3 with cataract (MIM#165300), AD Tags
Green Green List (high evidence)	OTC Hyperammonaemia v0.10	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 Genomics England PanelApp Phenotypes Ornithine transcarbamylase deficiency, 311250 Tags
Green Green List (high evidence)	OTC Aminoacidopathy v1.139	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 Other Phenotypes ornithine carbamoyltransferase deficiency MONDO:0010703 Tags
Green Green List (high evidence)	OXCT1 Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Phenotypes Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050 Tags
Green Green List (high evidence)	OXCT1 Fatty Acid Oxidation Defects v1.15	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050 Tags
Green Green List (high evidence)	PAH Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Phenylketonuria MIM#261600 Disorders of phenylalanine or tyrosine metabolism Tags treatable
Green Green List (high evidence)	PAH Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes phenylketonuria MONDO:0009861 Tags
Green Green List (high evidence)	PAM16 Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes autosomal recessive spondylometaphyseal dysplasia, Megarbane type MONDO:0013223 Disorders of mitochondrial protein import Tags
Green Green List (high evidence)	PANK2 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes HARP syndrome MIM#607236 Neurodegeneration with brain iron accumulation 1 MIM#234200 Tags
Green Green List (high evidence)	PANK2 Vitamin metabolism disorders v1.7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes pantothenate kinase-associated neurodegeneration MONDO:0009319 Disorders of pantothenate and CoA metabolism Tags
Green Green List (high evidence)	PARS2 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Epileptic encephalopathy, early infantile, 75, MIM# 618437 Tags
Green Green List (high evidence)	PC Hyperammonaemia v0.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Pyruvate carboxylase deficiency 266150 Tags
Green Green List (high evidence)	PC Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Pyruvate carboxylase deficiency, MIM# 266150 Tags
Green Green List (high evidence)	PCBD1 Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes pterin-4 alpha-carbinolamine dehydratase 1 deficiency MONDO:0009908 Tags
Green Green List (high evidence)	PCBD1 Monogenic Diabetes v0.202	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hyperphenylalaninemia, BH4-deficient, D, 264070 Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty) Tags
Green Green List (high evidence)	PCCA Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes propionic acidemia MONDO:0011628 Tags treatable
Green Green List (high evidence)	PCCA Hyperammonaemia v0.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Propionicacidemia 606054 Tags treatable
Green Green List (high evidence)	PCCB Hyperammonaemia v0.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Propionicacidemia 606054 Tags treatable
Green Green List (high evidence)	PCCB Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes propionic acidemia MONDO:0011628 Tags treatable
Green Green List (high evidence)	PCK1 Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Phosphoenolpyruvate carboxykinase deficiency, cytosolic MIM#261680 Disorders of gluconeogenesis Tags
Green Green List (high evidence)	PCSK9 Dyslipidaemia v0.47	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Hypercholesterolemia Tags
Green Green List (high evidence)	PDE12 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial disease MONDO:0044970, PDE12-related Tags
Green Green List (high evidence)	PDHA1 Mitochondrial disease v1.14	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 Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Pyruvate dehydrogenase E1-alpha deficiency - MIM#312170 Tags
Green Green List (high evidence)	PDHB Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Pyruvate dehydrogenase E1-beta deficiency - MIM#614111 Tags
Green Green List (high evidence)	PDHX Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Lactic acidaemia due to PDX1 deficiency MIM#245349 Tags
Green Green List (high evidence)	PDIA6 Monogenic Diabetes v0.202	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes multiple congenital anomalies, MONDO:0019042, PDIA6-related Tags
Green Green List (high evidence)	PDK3 Mitochondrial disease v1.14	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 Phenotypes Charcot-Marie-Tooth disease, X-linked dominant, 6, MIM# 300905 Tags
Green Green List (high evidence)	PDP1 Mitochondrial disease v1.14	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 Phenotypes Pyruvate dehydrogenase phosphatase deficiency - MIM#608782 Tags
Green Green List (high evidence)	PDSS1 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Coenzyme Q10 deficiency, primary, 2 MIM#614651 Tags
Green Green List (high evidence)	PDSS2 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Coenzyme Q10 deficiency, primary, 3 MIM#614652 Tags
Green Green List (high evidence)	PDX1 Monogenic Diabetes v0.202	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes maturity-onset diabetes of the young type 4 MONDO:0011667 Tags
Green Green List (high evidence)	PDXK Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy MIM#618511 Disorders of pyridoxine metabolism Tags
Green Green List (high evidence)	PEPD Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Prolidase deficiency MONDO:0008221 Tags
Green Green List (high evidence)	PEPD Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Prolidase deficiency MIM#170100 disorders of peptide metabolism Tags
Green Green List (high evidence)	PET100 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex IV deficiency, nuclear type 12, MIM# 619055 Tags founder
Green Green List (high evidence)	PEX1 Peroxisomal Disorders v0.61	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	PEX10 Peroxisomal Disorders v0.61	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	PEX11B Peroxisomal Disorders v0.61	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 14B - MIM#614920 Tags
Green Green List (high evidence)	PEX12 Peroxisomal Disorders v0.61	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	PEX13 Peroxisomal Disorders v0.61	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	PEX14 Peroxisomal Disorders v0.61	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes peroxisome biogenesis disorder due to PEX14 defect MONDO:0100268 Tags
Green Green List (high evidence)	PEX16 Peroxisomal Disorders v0.61	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	PEX19 Peroxisomal Disorders v0.61	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 12A (Zellweger) - MIM#614886 Tags
Green Green List (high evidence)	PEX2 Peroxisomal Disorders v0.61	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	PEX26 Peroxisomal Disorders v0.61	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	PEX3 Peroxisomal Disorders v0.61	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	PEX5 Peroxisomal Disorders v0.61	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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)	PEX6 Peroxisomal Disorders v0.61	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	PEX7 Peroxisomal Disorders v0.61	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 9B, MIM# 614879 Rhizomelic chondrodysplasia punctata, type 1, MIM# 215100 Tags
Green Green List (high evidence)	PFKM Glycogen Storage Diseases v1.4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycogen storage disease VII (MIM#232800) Tags
Green Green List (high evidence)	PGAM2 Glycogen Storage Diseases v1.4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycogen storage disease X, MIM# 261670 Tags
Green Green List (high evidence)	PGAP2 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628 Tags
Green Green List (high evidence)	PGAP3 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318 Tags
Green Green List (high evidence)	PGK1 Glycogen Storage Diseases v1.4	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Phosphoglycerate kinase 1 deficiency, MIM# 300653 MONDO:0010392 Tags
Green Green List (high evidence)	PGM1 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type It 614921 Tags treatable
Green Green List (high evidence)	PGM1 Glycogen Storage Diseases v1.4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type It 614921 Glycogen storage disorder XIV Tags treatable
Green Green List (high evidence)	PGM3 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 23, MIM# 615816 PGM3-CDG, MONDO:0014353 Tags
Green Green List (high evidence)	PHGDH Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes neurometabolic disorder due to serine deficiency MONDO:0018162 Tags
Green Green List (high evidence)	PHGDH Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Neu-Laxova syndrome 1 256520 Phosphoglycerate dehydrogenase deficiency 601815 Tags
Green Green List (high evidence)	PHKA1 Glycogen Storage Diseases v1.4	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscle glycogenosis, MIM# 300559 Tags
Green Green List (high evidence)	PHKA2 Glycogen Storage Diseases v1.4	1 review 1 green	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	PHKB Glycogen Storage Diseases v1.4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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 v1.4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycogen storage disease IXc, MIM# 613027 Tags
Green Green List (high evidence)	PHYH Peroxisomal Disorders v0.61	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Refsum disease, MIM# 266500 Tags
Green Green List (high evidence)	PIGA Congenital Disorders of Glycosylation v1.82	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466 Tags
Green Green List (high evidence)	PIGA Metal Metabolism Disorders v0.52	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with epilepsy and hemochromatosis, MIM# 301072 Tags
Green Green List (high evidence)	PIGB Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Developmental and epileptic encephalopathy 80 618580 Tags
Green Green List (high evidence)	PIGH Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Glycosylphosphatidylinositol biosynthesis defect 17, MIM# 618010 Tags
Green Green List (high evidence)	PIGK Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, MIM# 618879 Tags
Green Green List (high evidence)	PIGL Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes CHIME syndrome, MIM# 280000, MONDO:0010221 Tags founder SV/CNV
Green Green List (high evidence)	PIGN Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563 Tags founder SV/CNV
Green Green List (high evidence)	PIGO Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882 Tags
Green Green List (high evidence)	PIGP Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Developmental and epileptic encephalopathy 55, MIM# 617599 Tags
Green Green List (high evidence)	PIGS Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Glycosylphosphatidylinositol biosynthesis defect 18 618143 Tags
Green Green List (high evidence)	PIGT Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165 Tags
Green Green List (high evidence)	PIGV Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398 Tags
Green Green List (high evidence)	PIGW Congenital Disorders of Glycosylation v1.82	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycosylphosphatidylinositol biosynthesis defect 11, MIM# 616025 Tags
Green Green List (high evidence)	PIK3R1 Monogenic Diabetes v0.202	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes SHORT syndrome MONDO:0010026 Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome, MIM#269880 Tags
Green Green List (high evidence)	PINK1 Mitochondrial disease v1.14	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Phenotypes Parkinson disease 6, early onset, MIM# 605909 Tags
Green Green List (high evidence)	PISD Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Liberfarb syndrome, MIM# 618889 Intellectual disability cataracts retinal degeneration microcephaly deafness short stature white matter abnormalities Tags
Green Green List (high evidence)	PITRM1 Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Spinocerebellar ataxia-30 (SCAR30), MIM#619405 intellectual disability cognitive decline psychosis Tags
Green Green List (high evidence)	PLA2G16 Monogenic Diabetes v0.202	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes Lipodystrophy, familial partial, type 9, MIM# 620683 Tags new gene name
Green Green List (high evidence)	PLA2G6 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes 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)	PLIN1 Monogenic Diabetes v0.202	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes PLIN1-related familial partial lipodystrophy, MONDO:0013478 Tags
Green Green List (high evidence)	PLPBP Vitamin metabolism disorders v1.7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes pyridoxine-dependent epilepsy MONDO:0009945 Disorders of pyridoxine metabolism Tags
Green Green List (high evidence)	PMM2 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ia 212065 Tags
Green Green List (high evidence)	PMPCA Mitochondrial disease v1.14	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 Phenotypes Spinocerebellar ataxia, autosomal recessive 2, MIM# 213200 Tags
Green Green List (high evidence)	PMPCB Mitochondrial disease v1.14	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 Phenotypes Multiple mitochondrial dysfunctions syndrome 6, MIM# 617954 Tags
Green Green List (high evidence)	PNLIP Dyslipidaemia v0.47	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pancreatic lipase deficiency MIM#614338 disorders of lipid and lipoprotein metabolism Tags
Green Green List (high evidence)	PNP Nucleotide metabolism disorders v0.8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM# 613179 Disorders of purine metabolism Tags
Green Green List (high evidence)	PNP Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM# 613179 Tags
Green Green List (high evidence)	PNPLA8 Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related Mitochondrial myopathy with lactic acidosis (MIM#251950), AR Tags
Green Green List (high evidence)	PNPO Vitamin metabolism disorders v1.7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pyridoxal phosphate-responsive seizures MONDO:0012407 Disorders of pyridoxine metabolism Tags
Green Green List (high evidence)	PNPO Neurotransmitter Defects v1.8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090 Tags
Green Green List (high evidence)	PNPT1 Mitochondrial disease v1.14	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 Phenotypes Combined oxidative phosphorylation deficiency 13 (MIM#614932) Deafness, autosomal recessive 70 (MIM#614934) Tags
Green Green List (high evidence)	POC5 Monogenic Diabetes v0.202	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ciliopathy, MONDO:0005308, POC5-related Tags
Green Green List (high evidence)	POLD1 Monogenic Diabetes v0.202	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes mandibular hypoplasia-deafness-progeroid syndrome MONDO:0014157 Tags
Green Green List (high evidence)	POLG Hyperammonaemia v0.10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Genomics England PanelApp Expert list Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700 Tags
Green Green List (high evidence)	POLG Mitochondrial disease v1.14	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 Phenotypes 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)	POLG2 Mitochondrial disease v1.14	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 Phenotypes 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)	POLRMT Mitochondrial disease v1.14	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 55, MIM# 619743 intellectual disability hypotonia Tags
Green Green List (high evidence)	POMGNT1 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopathy caused by variation in POMGNT1 MONDO:0700068 Tags
Green Green List (high evidence)	POMGNT2 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopathy caused by variation in POMGNT2 MONDO:0700069 Tags
Green Green List (high evidence)	POMK Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	POMT1 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopathy caused by variation in POMT1 MONDO:0700070 Tags
Green Green List (high evidence)	POMT2 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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)	POR Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750 Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571 Tags
Green Green List (high evidence)	PPA2 Mitochondrial disease v1.14	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 Phenotypes Sudden cardiac failure, alcohol-induced, 617223 Sudden cardiac failure, infantile, 617222 Tags
Green Green List (high evidence)	PPARG Monogenic Diabetes v0.202	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Insulin resistance, severe, digenic FPLD3 Obesity, severe, 601665 {Diabetes, type 2}, 125853 Lipodystrophy, familial partial, type 3 Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension Insulin resistance, severe, digenic 604367 [Obesity, resistance to] Lipodystrophy, familial partial, type 3, 604367 Insulin resistance, severe, digenic, 604367 Lipodystrophy, familial partial, type 3 604367 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3 Carotid intimal medial thickness 1, 609338 Tags
Green Green List (high evidence)	PPCS Mitochondrial disease v1.14	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cardiomyopathy, dilated, 2C, MIM# 618189 Tags
Green Green List (high evidence)	PPOX Mitochondrial disease v1.14	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 Phenotypes Porphyria variegata MIM#176200 Tags
Green Green List (high evidence)	PPOX Haem degradation and bilirubin metabolism defects v0.19	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Porphyria variegata, MIM# 176200 Variegate porphyria, childhood-onset, MIM# 620483 Tags
Green Green List (high evidence)	PPT1 Lysosomal Storage Disorder v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ceroid lipofuscinosis, neuronal, 1, MIM# 256730 MONDO:0009744 Tags
Green Green List (high evidence)	PRDX1 Vitamin metabolism disorders v1.7	1 review 1 green	Other	Sources Expert Review Green Literature Phenotypes methylmalonic aciduria and homocystinuria type cblC MONDO:0010184 Tags digenic
Green Green List (high evidence)	PRDX3 Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes Cerebellar ataxia MONDO:0000437, PRDX3-related Tags
Green Green List (high evidence)	PREPL Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Literature Literature Phenotypes Myasthenic syndrome, congenital, 22 MIM#616224 hypotonia-cystinuria syndrome Tags
Green Green List (high evidence)	PREPL Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 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 v1.4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycogen storage disease of heart, lethal congenital, MIM# 261740 Tags
Green Green List (high evidence)	PRKN Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of mitochondrial protein quality control Parkinson disease MONDO:0005180 Tags
Green Green List (high evidence)	PRODH Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hyperprolinemia, type I 239500 Proline oxidase deficiency Tags
Green Green List (high evidence)	PRODH Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes hyperprolinemia type 1 MONDO:0009400 Tags
Green Green List (high evidence)	PRPS1 Miscellaneous Metabolic Disorders v1.60	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Phenotypes 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)	PRPS1 Nucleotide metabolism disorders v0.8	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Green Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes PRPS1 deficiency disorder MONDO:0100061 Disorders of purine metabolism Tags
Green Green List (high evidence)	PSAP Lysosomal Storage Disorder v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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)	PSAT1 Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Phosphoserine aminotransferase deficiency MIM#610992 Neu-Laxova syndrome 2 MIM#616038 Tags
Green Green List (high evidence)	PSAT1 Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes neurometabolic disorder due to serine deficiency MONDO:0018162 Tags
Green Green List (high evidence)	PSPH Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes neurometabolic disorder due to serine deficiency MONDO:0018162 Tags
Green Green List (high evidence)	PSPH Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Phosphoserine phosphatase deficiency MIM#614023 Disorders of serine, glycine or glycerate metabolism Tags
Green Green List (high evidence)	PTCD3 Mitochondrial disease v1.14	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency-51, MIM#619057 Mental retardation optic atrophy Leigh-like syndrome Tags
Green Green List (high evidence)	PTF1A Monogenic Diabetes v0.202	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Phenotypes Diabetes mellitus, permanent neonatal, with cerebellar agenesis, MIM#609069 Tags
Green Green List (high evidence)	PTPMT1 Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with ataxia and brain abnormalities, MIM# 621199 Tags
Green Green List (high evidence)	PTRH2 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Miscellaneous disorders associated with mitochondrial dysfunction neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 MONDO:8000012 Tags
Green Green List (high evidence)	PTS Neurotransmitter Defects v1.8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640 Tags treatable
Green Green List (high evidence)	PTS Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes BH4-deficient hyperphenylalaninemia A MONDO:0009863 Tags
Green Green List (high evidence)	PUS1 Mitochondrial disease v1.14	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 Phenotypes Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462 Tags
Green Green List (high evidence)	PYCR1 Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes autosomal recessive cutis laxa type 2B MONDO:0013051 Tags
Green Green List (high evidence)	PYCR1 Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes 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 Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Hypomyelinating leukodystrophy 10 MONDO:0014632 Disorders of ornithine, proline and hydroxyproline metabolism Tags
Green Green List (high evidence)	PYGL Glycogen Storage Diseases v1.4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycogen storage disease VI, MIM# 232700 Tags
Green Green List (high evidence)	PYGM Glycogen Storage Diseases v1.4	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes McArdle disease, MIM# 232600 Disorder of glycogen metabolism MONDO:0002412, PYGM-related, AD Tags
Green Green List (high evidence)	PYGM Hyperammonaemia v0.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert Review Green Victorian Clinical Genetics Services Phenotypes McArdle disease 232600 Tags
Green Green List (high evidence)	QARS Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760 Tags
Green Green List (high evidence)	QDPR Neurotransmitter Defects v1.8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperphenylalaninemia, BH4-deficient, C, MIM# 261630 Tags treatable
Green Green List (high evidence)	QDPR Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes dihydropteridine reductase deficiency MONDO:0009862 Tags
Green Green List (high evidence)	QRSL1 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 40 MIM#618835 Tags
Green Green List (high evidence)	RAB7A Lysosomal Storage Disorder v1.27	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Disorders of autophagy Charcot-Marie-Tooth disease type 2 MONDO:0018993 Tags
Green Green List (high evidence)	RANBP2 Mitochondrial disease v1.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes {Encephalopathy, acute, infection-induced, 3, susceptibility to} MIM#608033 Tags
Green Green List (high evidence)	RARS2 Mitochondrial disease v1.14	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 Phenotypes Pontocerebellar hypoplasia, type 6, MIM# 611523 Tags
Green Green List (high evidence)	RBCK1 Glycogen Storage Diseases v1.4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Polyglucosan body myopathy 1 with or without immunodeficiency MIM#615895 Tags
Green Green List (high evidence)	RBP4 Vitamin metabolism disorders v1.7	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Other disorders of vitamin metabolism microphthalmia, isolated, with coloboma 10 MONDO:0014635 Tags
Green Green List (high evidence)	RBP4 Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Microphthalmia, isolated, with coloboma 10, MIM# 616428 Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, MIM# 615147 Tags
Green Green List (high evidence)	RDH12 Vitamin metabolism disorders v1.7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Leber congenital amaurosis 13 MONDO:0012990 Other disorders of vitamin metabolism Tags
Green Green List (high evidence)	RDH5 Vitamin metabolism disorders v1.7	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Fundus albipunctatus Other disorders of vitamin metabolism Tags
Green Green List (high evidence)	RFT1 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type In, MIM# 612015 RFT1-CDG, MONDO:0012783 Tags
Green Green List (high evidence)	RFX6 Monogenic Diabetes v0.202	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list NHS GMS Expert Review Green Phenotypes Mitchell-Riley syndrome, 615710 Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities recessive syndromic diabetes and autosomal dominant MODY Tags
Green Green List (high evidence)	RLBP1 Vitamin metabolism disorders v1.7	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Other disorders of vitamin metabolism RLBP1-related retinopathy MONDO:0100444 Tags
Green Green List (high evidence)	RMND1 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 11 MIM#614922 Tags
Green Green List (high evidence)	RMRP Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Disorders of ribosomal biogenesis cartilage-hair hypoplasia MONDO:0009595 Tags non-coding gene
Green Green List (high evidence)	RNASEH1 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 MIM#616479 Tags
Green Green List (high evidence)	RNASEH2A Nucleotide metabolism disorders v0.8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of ectonucleotide and nucleic acid metabolism Aicardi-Goutieres syndrome MONDO:0018866 Tags
Green Green List (high evidence)	RNASEH2B Nucleotide metabolism disorders v0.8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Disorders of ectonucleotide and nucleic acid metabolism Aicardi-Goutieres syndrome MONDO:0018866 Tags
Green Green List (high evidence)	RNASEH2C Nucleotide metabolism disorders v0.8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of ectonucleotide and nucleic acid metabolism Aicardi-Goutieres syndrome MONDO:0018866 Tags
Green Green List (high evidence)	RNASET2 Nucleotide metabolism disorders v0.8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of ectonucleotide and nucleic acid metabolism cystic leukoencephalopathy without megalencephaly MONDO:0013058 Tags
Green Green List (high evidence)	RNF213 Mitochondrial disease v1.14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Moyamoya disease, MONDO:0016820 pediatric arterial ischemic stroke, MONDO:0018585 Tags
Green Green List (high evidence)	RNU4ATAC Monogenic Diabetes v0.202	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes RNU4ATAC spectrum disorder MONDO:0100558 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)	RPE65 Vitamin metabolism disorders v1.7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of vitamin A metabolism RPE65-related recessive retinopathy MONDO:0100368 Tags
Green Green List (high evidence)	RPIA Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Ribose 5-phosphate isomerase deficiency, MIM# 608611 Leukoencephalopathy Tags
Green Green List (high evidence)	RRM2B Mitochondrial disease v1.14	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 Phenotypes 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)	RTN4IP1 Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Optic atrophy 10 with or without ataxia, mental retardation, and seizures, MIM#616732 Tags
Green Green List (high evidence)	SACS Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert list Phenotypes Spastic ataxia, Charlevoix-Saguenay type, MIM# 270550 Tags
Green Green List (high evidence)	SAMHD1 Nucleotide metabolism disorders v0.8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of mitochondrial nucleotide pool maintenance Aicardi-Goutieres syndrome MONDO:0018866 Tags
Green Green List (high evidence)	SAR1B Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Chylomicron retention disease, MIM# 246700 Tags
Green Green List (high evidence)	SAR1B Dyslipidaemia v0.47	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Chylomicron retention disease, MIM# 246700 Tags
Green Green List (high evidence)	SARS2 Mitochondrial disease v1.14	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 Phenotypes Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, MIM#613845 Tags
Green Green List (high evidence)	SC5D Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Lathosterolosis, MIM# 607330 Tags
Green Green List (high evidence)	SCARB2 Lysosomal Storage Disorder v1.27	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes action myoclonus-renal failure syndrome MONDO:0009699 Other disorders of complex molecule degradation Tags
Green Green List (high evidence)	SCO1 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex IV deficiency, nuclear type 4, MIM# 619048 Tags
Green Green List (high evidence)	SCO2 Mitochondrial disease v1.14	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 Phenotypes Mitochondrial complex IV deficiency, nuclear type 2, MIM# 604377 Tags
Green Green List (high evidence)	SDHA Mitochondrial disease v1.14	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 Phenotypes 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 v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166 Tags
Green Green List (high evidence)	SDHB Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex II deficiency, nuclear type 4, MIM# 619224 Complex II deficiency mitochondrial leucoencephalopathy Tags
Green Green List (high evidence)	SDHD Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167 Tags
Green Green List (high evidence)	SEC23B Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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)	SECISBP2 Metal Metabolism Disorders v0.52	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes thyroid hormone metabolism, abnormal 1 MONDO:0800046 Other disorders of trace element metabolism Tags
Green Green List (high evidence)	SELENBP1 Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes extraoral halitosis due to methanethiol oxidase deficiency MONDO:0029144 Tags
Green Green List (high evidence)	SEPSECS Metal Metabolism Disorders v0.52	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes pontocerebellar hypoplasia type 2D MONDO:0013438 Other disorders of trace element metabolism Tags
Green Green List (high evidence)	SERAC1 Hyperammonaemia v0.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes MEGDHEL syndrome MEGDEL syndrome 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome Hypoglycemia Tags
Green Green List (high evidence)	SERAC1 Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MONDO:0013875 Tags
Green Green List (high evidence)	SERAC1 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739 Tags
Green Green List (high evidence)	SFXN4 Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 18, MIM#615578 Tags
Green Green List (high evidence)	SGSH Lysosomal Storage Disorder v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900 MONDO:0009655 Tags
Green Green List (high evidence)	SHMT2 Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities MONDO:0030866 Tags
Green Green List (high evidence)	SHMT2 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 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)	SI Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Sucrase-isomaltase deficiency, congenital, MIM# 222900 Tags
Green Green List (high evidence)	SLC10A1 Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Familial hypercholanemia-2, MIM#619256 Tags
Green Green List (high evidence)	SLC10A7 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, MIM# 618363 Tags
Green Green List (high evidence)	SLC11A2 Metal Metabolism Disorders v0.52	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS Genomic Medicine Service Expert Review Green Genomics England PanelApp Phenotypes 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 v0.52	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of magnesium metabolism Gitelman syndrome MONDO:0009904 Tags
Green Green List (high evidence)	SLC16A1 Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Monocarboxylate transporter 1 deficiency, MIM# 616095 Tags
Green Green List (high evidence)	SLC17A5 Lysosomal Storage Disorder v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Salla disease 604369 MONDO:0011449 Sialic acid storage disorder, infantile 269920 MONDO:0010027 Tags founder
Green Green List (high evidence)	SLC18A2 Neurotransmitter Defects v1.8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Parkinsonism-dystonia, infantile, 2, MIM# 618049 Tags
Green Green List (high evidence)	SLC19A2 Mitochondrial disease v1.14	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 Phenotypes Thiamine-responsive megaloblastic anaemia syndrome, MIM# 249270 Tags
Green Green List (high evidence)	SLC19A2 Monogenic Diabetes v0.202	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes thiamine-responsive megaloblastic anemia syndrome MONDO:0009575 Tags
Green Green List (high evidence)	SLC19A3 Mitochondrial disease v1.14	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 Phenotypes Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483 Tags
Green Green List (high evidence)	SLC1A2 Aminoacidopathy v1.139	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green ClinGen Phenotypes developmental and epileptic encephalopathy, 41 MONDO:0014916 Tags
Green Green List (high evidence)	SLC1A3 Aminoacidopathy v1.139	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green ClinGen Phenotypes episodic ataxia type 6 MONDO:0012982 Tags
Green Green List (high evidence)	SLC1A4 Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome MONDO:0014725 Tags
Green Green List (high evidence)	SLC22A12 Nucleotide metabolism disorders v0.8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes hereditary renal hypouricemia MONDO:0009071 Disorders of purine metabolism Tags
Green Green List (high evidence)	SLC22A5 Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Carnitine deficiency, systemic primary MIM#212140 Tags treatable
Green Green List (high evidence)	SLC22A5 Hyperammonaemia v0.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Propionicacidemia 606054 Tags
Green Green List (high evidence)	SLC22A5 Fatty Acid Oxidation Defects v1.15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Carnitine deficiency, systemic primary, MIM# 212140 Tags treatable
Green Green List (high evidence)	SLC25A1 Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes 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)	SLC25A12 Mitochondrial disease v1.14	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 Phenotypes Developmental and epileptic encephalopathy 39, MIM# 612949 Tags
Green Green List (high evidence)	SLC25A13 Hyperammonaemia v0.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Citrullinemia, adult-onset type II 603471 Tags
Green Green List (high evidence)	SLC25A13 Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes citrin deficiency MONDO:0016602 Tags
Green Green List (high evidence)	SLC25A15 Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes ornithine translocase deficiency MONDO:0009393 (HHH Syndrome) Tags
Green Green List (high evidence)	SLC25A15 Hyperammonaemia v0.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 Tags
Green Green List (high evidence)	SLC25A19 Mitochondrial disease v1.14	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 Phenotypes Microcephaly, Amish type, MIM#607196 Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), MIM#613710 Tags
Green Green List (high evidence)	SLC25A20 Fatty Acid Oxidation Defects v1.15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Carnitine-acylcarnitine translocase deficiency, MIM# 212138 Tags treatable
Green Green List (high evidence)	SLC25A20 Hyperammonaemia v0.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert Review Green Victorian Clinical Genetics Services Phenotypes Carnitine-acylcarnitine translocase deficiency 212138 Tags treatable
Green Green List (high evidence)	SLC25A20 Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Literature Victorian Clinical Genetics Services Phenotypes Carnitine-acylcarnitine translocase deficiency MIM#212138 Tags treatable
Green Green List (high evidence)	SLC25A22 Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Developmental and epileptic encephalopathy MONDO:0100062 Tags
Green Green List (high evidence)	SLC25A24 Mitochondrial disease v1.14	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Fontaine progeroid syndrome MIM#612289 Tags
Green Green List (high evidence)	SLC25A26 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 28, MIM# 616794 Tags
Green Green List (high evidence)	SLC25A3 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial phosphate carrier deficiency, MIM# 610773 Tags
Green Green List (high evidence)	SLC25A32 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Exercise intolerance, riboflavin-responsive, MIM# 616839 Tags
Green Green List (high evidence)	SLC25A32 Vitamin metabolism disorders v1.7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Exercise intolerance, riboflavin-responsive, MONDO:0014795 Disorders of riboflavin metabolism Tags
Green Green List (high evidence)	SLC25A36 Hyperammonaemia v0.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hyperinsulinemic hypoglycemia, familial, 8 - MIM#620211 Tags
Green Green List (high evidence)	SLC25A36 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hyperinsulinemic hypoglycemia, familial, 8 - MIM#620211 Tags
Green Green List (high evidence)	SLC25A38 Metal Metabolism Disorders v0.52	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS Genomic Medicine Service Expert Review Green Genomics England PanelApp Phenotypes 205950 Anemia, sideroblastic, 2, pyridoxine-refractory Sideroblastic anaemia - increased serum ferritin Tags
Green Green List (high evidence)	SLC25A38 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950 Tags
Green Green List (high evidence)	SLC25A4 Mitochondrial disease v1.14	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 Phenotypes 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 v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression , MIM#618416 Tags founder
Green Green List (high evidence)	SLC25A46 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505 Pontocerebellar hypoplasia, type 1E, MIM# 619303 Tags
Green Green List (high evidence)	SLC29A3 Monogenic Diabetes v0.202	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Histiocytosis-lymphadenopathy plus syndrome, MIM#602782 Tags
Green Green List (high evidence)	SLC29A3 Nucleotide metabolism disorders v0.8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Disorders of ectonucleotide and nucleic acid metabolism H syndrome MONDO:0011273 Tags
Green Green List (high evidence)	SLC2A1 Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes 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)	SLC2A10 Vitamin metabolism disorders v1.7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Arterial tortuosity syndrome MONDO:0008818 Other disorders of vitamin metabolism Tags
Green Green List (high evidence)	SLC2A2 Glycogen Storage Diseases v1.4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fanconi-Bickel syndrome (MIM#227810) Tags
Green Green List (high evidence)	SLC2A2 Monogenic Diabetes v0.202	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Phenotypes Fanconi-Bickel syndrome, MIM# 227810 Tags
Green Green List (high evidence)	SLC2A9 Nucleotide metabolism disorders v0.8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes hereditary renal hypouricemia MONDO:0009071 Disorders of purine metabolism Tags
Green Green List (high evidence)	SLC30A10 Metal Metabolism Disorders v0.52	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes hypermanganesemia syndrome MONDO:0013208 Disorders of magnesium metabolism Tags
Green Green List (high evidence)	SLC30A10 Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hypermanganesemia with dystonia 1, MIM# 613280 Tags
Green Green List (high evidence)	SLC30A2 Metal Metabolism Disorders v0.52	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Zinc deficiency, transient neonatal , MIM#608118 Disorders of zinc metabolism Tags
Green Green List (high evidence)	SLC30A9 Metal Metabolism Disorders v0.52	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Birk-Landau-Perez syndrome (MIM#617595) Disorders of zinc metabolism Tags
Green Green List (high evidence)	SLC31A1 Metal Metabolism Disorders v0.52	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodegeneration and seizures due to copper transport defect, MIM# 620306 Tags
Green Green List (high evidence)	SLC33A1 Metal Metabolism Disorders v0.52	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of copper metabolism Huppke-Brendel syndrome MONDO:0013772 Tags
Green Green List (high evidence)	SLC35A1 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIf, MIM# 603585 Tags
Green Green List (high evidence)	SLC35A2 Congenital Disorders of Glycosylation v1.82	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 Phenotypes Congenital disorder of glycosylation, type IIm (MIM #300896) Tags
Green Green List (high evidence)	SLC35A3 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arthrogryposis, mental retardation, and seizures OMIM #615553 Skeletal dysplasia Congenital disorder of glycosylation Tags
Green Green List (high evidence)	SLC35C1 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953 Tags
Green Green List (high evidence)	SLC35D1 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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 v1.82	4 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type IIw, MIM# 619525 Tags
Green Green List (high evidence)	SLC37A4 Glycogen Storage Diseases v1.4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycogen storage disease Ib (MIM#232220) Glycogen storage disease Ic (MIM#232240) Tags
Green Green List (high evidence)	SLC38A8 Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216 Tags
Green Green List (high evidence)	SLC39A13 Metal Metabolism Disorders v0.52	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ehlers-Danlos syndrome, spondylocheirodysplastic type MONDO:0012873 Disorders of zinc metabolism Tags
Green Green List (high evidence)	SLC39A14 Metal Metabolism Disorders v0.52	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes hypermanganesemia with dystonia 2 MONDO:0014864 Disorders of magnesium metabolism Tags
Green Green List (high evidence)	SLC39A14 Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hypermanganesemia with dystonia 2, MIM# 617013 Tags
Green Green List (high evidence)	SLC39A4 Metal Metabolism Disorders v0.52	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes acrodermatitis enteropathica MONDO:0008713 Disorders of zinc metabolism Tags
Green Green List (high evidence)	SLC39A4 Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Acrodermatitis enteropathica MIM#201100 (Disorder of zinc metabolism) Tags
Green Green List (high evidence)	SLC39A8 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Congenital disorder of glycosylation, type IIn , MIM#616721 Tags
Green Green List (high evidence)	SLC39A8 Metal Metabolism Disorders v0.52	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes SLC39A8-CDG MONDO:0014746 Other disorders of trace element metabolism Tags
Green Green List (high evidence)	SLC3A1 Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes cystinuria MONDO:0009067 Tags
Green Green List (high evidence)	SLC40A1 Monogenic Diabetes v0.202	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Hemochromatosis, type 4, MIM# 606069 Tags
Green Green List (high evidence)	SLC40A1 Metal Metabolism Disorders v0.52	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS Genomic Medicine Service Expert Review Green Genomics England PanelApp Phenotypes 606069 HEMOCHROMATOSIS, TYPE 4 HFE4 606069 Hemochromatosis, type 4 Tags
Green Green List (high evidence)	SLC46A1 Vitamin metabolism disorders v1.7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hereditary folate malabsorption MONDO:0009238 Disorders of folate metabolism Tags
Green Green List (high evidence)	SLC46A1 Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Folate malabsorption, hereditary, MIM# 229050 Tags
Green Green List (high evidence)	SLC52A2 Fatty Acid Oxidation Defects v1.15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Brown-Vialetto-Van Laere syndrome 2, MIM# 614707 Tags
Green Green List (high evidence)	SLC52A2 Vitamin metabolism disorders v1.7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Brown-Vialetto-van Laere syndrome 2 MONDO:0013867 Disorders of riboflavin metabolism Tags
Green Green List (high evidence)	SLC52A2 Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Brown-Vialetto-Van Laere syndrome 2 MIM#614707 Tags
Green Green List (high evidence)	SLC52A3 Vitamin metabolism disorders v1.7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of riboflavin metabolism Brown-Vialetto-van Laere syndrome 1 MONDO:0024537 Tags
Green Green List (high evidence)	SLC52A3 Fatty Acid Oxidation Defects v1.15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Brown-Vialetto-Van Laere syndrome 1, MIM# 211530 Tags
Green Green List (high evidence)	SLC52A3 Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Brown-Vialetto-Van Laere syndrome 1 MIM#211530 Tags
Green Green List (high evidence)	SLC5A1 Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Glucose/galactose malabsorption MIM# 606824 (Disorders of glucose transport) Tags
Green Green List (high evidence)	SLC5A6 Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973 Tags
Green Green List (high evidence)	SLC6A1 Neurotransmitter Defects v1.8	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Myoclonic-atonic epilepsy MONDO:0014633 Tags
Green Green List (high evidence)	SLC6A19 Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hartnup disorder, MIM# 234500 Hyperglycinuria, MIM# 138500 Iminoglycinuria, MIM# 242600 Tags
Green Green List (high evidence)	SLC6A19 Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes Hartnup disease MONDO:0009324 Tags
Green Green List (high evidence)	SLC6A3 Neurotransmitter Defects v1.8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Parkinsonism-dystonia, infantile, 1, MIM# 613135 Tags
Green Green List (high evidence)	SLC6A5 Neurotransmitter Defects v1.8	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperekplexia 3, MIM# 614618 Tags
Green Green List (high evidence)	SLC6A8 Miscellaneous Metabolic Disorders v1.60	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Cerebral creatine deficiency syndrome 1, MIM# 300352 Tags
Green Green List (high evidence)	SLC6A8 Aminoacidopathy v1.139	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green ClinGen Phenotypes creatine transporter deficiency MONDO:0010305 Tags
Green Green List (high evidence)	SLC6A9 Neurotransmitter Defects v1.8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Atypical glycine encephalopathy MONDO:0015010 Glycine neurotransmitter disorders Tags
Green Green List (high evidence)	SLC7A7 Hyperammonaemia v0.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Lysinuric protein intolerance 222700 Tags
Green Green List (high evidence)	SLC7A7 Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes lysinuric protein intolerance MONDO:0009109 Tags
Green Green List (high evidence)	SLC7A9 Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes cystinuria MONDO:0009067 Tags
Green Green List (high evidence)	SLCO1B1 Haem degradation and bilirubin metabolism defects v0.19	0 reviews	Other	Sources Expert Review Green Phenotypes Rotor syndrome MONDO:0009379 (MIM#237450), Disorders of bilirubin metabolism and biliary transport Tags
Green Green List (high evidence)	SLCO1B3 Haem degradation and bilirubin metabolism defects v0.19	0 reviews	Other	Sources Expert Review Green Phenotypes Rotor syndrome MONDO:0009379 (MIM#237450), Disorders of bilirubin metabolism and biliary transport Tags
Green Green List (high evidence)	SMPD1 Lysosomal Storage Disorder v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Niemann-Pick disease, type A, MIM# 257200 MONDO:0009756 Niemann-Pick disease, type B, MIM# 607616 MONDO:0011871 Tags
Green Green List (high evidence)	SMPD4 Monogenic Diabetes v0.202	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies MIM#618622 Tags
Green Green List (high evidence)	SNX14 Lysosomal Storage Disorder v1.27	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of autophagy autosomal recessive spinocerebellar ataxia 20 MONDO:0014601 Tags
Green Green List (high evidence)	SPATA5 Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Epilepsy, hearing loss, and mental retardation syndrome MIM#616577 Tags new gene name
Green Green List (high evidence)	SPG11 Lysosomal Storage Disorder v1.27	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of autophagy hereditary spastic paraplegia 11 MONDO:0011445 Tags
Green Green List (high evidence)	SPG7 Mitochondrial disease v1.14	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 Phenotypes Spastic paraplegia 7, autosomal recessive, MIM# 607259 Autosomal dominant optic atrophy, MONDO:0020250 Tags
Green Green List (high evidence)	SPNS1 Lysosomal Storage Disorder v1.27	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lysosomal disorder, SPNS1-related, MONDO:0002561 Tags
Green Green List (high evidence)	SPR Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes dopa-responsive dystonia due to sepiapterin reductase deficiency MONDO:0012994 Tags
Green Green List (high evidence)	SPR Neurotransmitter Defects v1.8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716 Tags
Green Green List (high evidence)	SPTLC1 Miscellaneous Metabolic Disorders v1.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Neuropathy, hereditary sensory and autonomic, type IA, MIM# 162400 Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis) Tags
Green Green List (high evidence)	SPTLC2 Miscellaneous Metabolic Disorders v1.60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Neuropathy, hereditary sensory and autonomic, type IC, MIM# 613640 Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis) Tags
Green Green List (high evidence)	SRD5A3 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Iq, MIM# 612379 Kahrizi syndrome, MIM# 612713 Tags
Green Green List (high evidence)	SSBP1 Mitochondrial disease v1.14	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Optic atrophy with or without extraocular phenotypes Optic atrophy-13 with retinal and foveal abnormalities, MIM#165510 Tags
Green Green List (high evidence)	SSR4 Congenital Disorders of Glycosylation v1.82	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Congenital disorder of glycosylation, type Iy, MIM#300934 Tags
Green Green List (high evidence)	ST3GAL3 Congenital Disorders of Glycosylation v1.82	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual disability, autosomal recessive 12 MIM# 611090 Tags
Green Green List (high evidence)	ST3GAL5 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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 v0.52	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hyperferritinemia, MIM# 620729 Tags
Green Green List (high evidence)	STAT1 Monogenic Diabetes v0.202	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome MONDO:0013599 Tags
Green Green List (high evidence)	STAT2 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Immunodeficiency 44, MIM# 616636 Tags
Green Green List (high evidence)	STAT3 Monogenic Diabetes v0.202	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green UKGTN Phenotypes STAT3-related early-onset multisystem autoimmune disease MONDO:0014414 Tags
Green Green List (high evidence)	STS Miscellaneous Metabolic Disorders v1.60	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Ichthyosis, X-linked 308100 Sterol metabolism disorder Tags SV/CNV
Green Green List (high evidence)	STT3A Congenital Disorders of Glycosylation v1.82	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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)	SUCLA2 Mitochondrial disease v1.14	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 Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM# 612073, MONDO:0012791 Tags
Green Green List (high evidence)	SUCLG1 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) MIM#245400 Tags
Green Green List (high evidence)	SUMF1 Lysosomal Storage Disorder v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Multiple sulfatase deficiency (MIM#272200) Tags
Green Green List (high evidence)	SUOX Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Sulfite oxidase deficiency, MIM# 272300 Tags
Green Green List (high evidence)	SUOX Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes isolated sulfite oxidase deficiency MONDO:0010089 Tags
Green Green List (high evidence)	SURF1 Mitochondrial disease v1.14	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 Phenotypes Charcot-Marie-Tooth disease, type 4K MIM#616684 Mitochondrial complex IV deficiency, nuclear type 1 MIM#220110 Tags
Green Green List (high evidence)	TACO1 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex IV deficiency, nuclear type 8, MIM# 619052 Tags
Green Green List (high evidence)	TALDO1 Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Transaldolase deficiency , MIM#606003 Tags
Green Green List (high evidence)	TAMM41 Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency-56 (COXPD56), MIM#620139 hypotonia developmental delay myopathy ptosis Tags
Green Green List (high evidence)	TANGO2 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MIM# 616878 Tags
Green Green List (high evidence)	TARS2 Mitochondrial disease v1.14	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 21, MIM# 615918 Tags
Green Green List (high evidence)	TAT Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Tyrosinemia, type II, MIM# 276600 Tags treatable
Green Green List (high evidence)	TAT Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes tyrosinemia type II MONDO:0010160 Tags
Green Green List (high evidence)	TAZ Fatty Acid Oxidation Defects v1.15	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Barth syndrome, MIM# 302060 Tags
Green Green List (high evidence)	TAZ Aminoacidopathy v1.139	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes 3-methylglutaconic aciduria MONDO:0017359 Tags
Green Green List (high evidence)	TAZ Mitochondrial disease v1.14	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 Phenotypes Barth syndrome, MIM# 302060 Tags
Green Green List (high evidence)	TBK1 Lysosomal Storage Disorder v1.27	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes frontotemporal dementia with motor neuron disease MONDO:0017161 Disorders of autophagy Tags
Green Green List (high evidence)	TCN2 Vitamin metabolism disorders v1.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert list Phenotypes Transcobalamin II deficiency, 275350 Tags
Green Green List (high evidence)	TECPR2 Lysosomal Storage Disorder v1.27	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of autophagy hereditary spastic paraplegia 49 MONDO:0014016 Tags
Green Green List (high evidence)	TEFM Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 58, MIM# 620451 Tags
Green Green List (high evidence)	TF Metal Metabolism Disorders v0.52	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS Genomic Medicine Service Expert Review Green Genomics England PanelApp Phenotypes 209300 Atransferrinemia 209300 Atransferrinemia, Hypoferritinaemia Tags
Green Green List (high evidence)	TFAM Mitochondrial disease v1.14	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) MIM#617156 Tags
Green Green List (high evidence)	TFR2 Monogenic Diabetes v0.202	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Hemochromatosis, type 3 604250 Tags
Green Green List (high evidence)	TFR2 Metal Metabolism Disorders v0.52	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS Genomic Medicine Service Expert Review Green Genomics England PanelApp Phenotypes 604250 Hemochromatosis, type 3 HFE3 604250 HEMOCHROMATOSIS, TYPE 3 Tags
Green Green List (high evidence)	TH Neurotransmitter Defects v1.8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Segawa syndrome, recessive , MIM#605407 Tags
Green Green List (high evidence)	TH Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes tyrosine hydroxylase deficiency MONDO:0100064 Tags
Green Green List (high evidence)	TIMM50 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes 3-methylglutaconic aciduria, type IX, MIM# 617698 Tags
Green Green List (high evidence)	TIMM8A Mitochondrial disease v1.14	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 Phenotypes Mohr-Tranebjaerg syndrome, MIM# 304700 Tags
Green Green List (high evidence)	TIMMDC1 Mitochondrial disease v1.14	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 31 MIM#618251 Tags deep intronic
Green Green List (high evidence)	TK2 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes 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)	TMEM126A Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Disorders of complex I subunits and assembly factors autosomal recessive optic atrophy, OPA7 type MONDO:0013069 Tags
Green Green List (high evidence)	TMEM126B Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 29, MIM# 618250 Tags
Green Green List (high evidence)	TMEM165 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIk, MIM# 614727 TMEM165-CDG, MONDO:0013870 Tags
Green Green List (high evidence)	TMEM167A Monogenic Diabetes v0.202	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Microcephaly, epilepsy, and diabetes syndrome MONDO:0100328, TMEM167A-related Tags
Green Green List (high evidence)	TMEM173 Nucleotide metabolism disorders v0.8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes STING-associated vasculopathy with onset in infancy MONDO:0014405 Tags
Green Green List (high evidence)	TMEM199 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type IIp MIM# 616829 Tags
Green Green List (high evidence)	TMEM251 Lysosomal Storage Disorder v1.27	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes Dysostosis multiplex, Ain-Naz type 619345 Tags new gene name
Green Green List (high evidence)	TMEM5 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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)	TMEM70 Mitochondrial disease v1.14	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 Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM# 614052 Tags
Green Green List (high evidence)	TMEM70 Hyperammonaemia v0.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 614052 Tags
Green Green List (high evidence)	TMPRSS6 Metal Metabolism Disorders v0.52	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS Genomic Medicine Service Expert Review Green Genomics England PanelApp Phenotypes IRIDA 206200 Iron-refractory iron deficiency anemia 206200 IRON-REFRACTORY IRON DEFICIENCY ANEMIA Tags
Green Green List (high evidence)	TOP3A Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes 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)	TPK1 Mitochondrial disease v1.14	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 Phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), MIM# 614458 Tags
Green Green List (high evidence)	TPP1 Lysosomal Storage Disorder v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ceroid lipofuscinosis, neuronal, 2, MIM# 204500 MONDO:0008769 Spinocerebellar ataxia, autosomal recessive 7, MIM# 609270 MONDO:0012235 Tags
Green Green List (high evidence)	TRAK1 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Epileptic encephalopathy, early infantile, 68, MIM# 618201 Tags
Green Green List (high evidence)	TRAPPC9 Congenital Disorders of Glycosylation v1.82	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal recessive 13 MIM#613192 Tags
Green Green List (high evidence)	TREX1 Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750 Disorder of nucleotide metabolism Tags
Green Green List (high evidence)	TREX1 Nucleotide metabolism disorders v0.8	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Disorder of nucleotide metabolism Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750 Tags
Green Green List (high evidence)	TRIM37 Peroxisomal Disorders v0.61	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	TRIT1 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 35, MIM#617873 Tags
Green Green List (high evidence)	TRMT10A Monogenic Diabetes v0.202	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Microcephaly, short stature, and impaired glucose metabolism 1, 616033 Tags
Green Green List (high evidence)	TRMT10C Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 30, MIM# 616974 Tags
Green Green List (high evidence)	TRMT5 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 26, MIM# 616539 Tags
Green Green List (high evidence)	TRMU Mitochondrial disease v1.14	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 Phenotypes Liver failure, transient infantile, MIM# 613070 Tags
Green Green List (high evidence)	TRNT1 Mitochondrial disease v1.14	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 Phenotypes 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)	TRPM6 Metal Metabolism Disorders v0.52	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypomagnesemia 1, intestinal MONDO:0011176, Disorders of magnesium metabolism Tags
Green Green List (high evidence)	TSFM Mitochondrial disease v1.14	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 Phenotypes Combined oxidative phosphorylation deficiency 3, MIM# 610505 Tags
Green Green List (high evidence)	TTC19 Mitochondrial disease v1.14	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 Phenotypes Mitochondrial complex III deficiency, nuclear type 2, MIM#615157 Tags
Green Green List (high evidence)	TTPA Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Ataxia with isolated vitamin E deficiency MIM#277460 disorders of vitamins and cofactors Tags
Green Green List (high evidence)	TUFM Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 4, OMIM #610678 MONDO:0012534 Tags
Green Green List (high evidence)	TUSC3 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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 v1.14	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 Phenotypes 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)	TYMP Mitochondrial disease v1.14	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 Phenotypes Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041 Tags
Green Green List (high evidence)	TYR Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes oculocutaneous albinism type 1 MONDO:0018135 Tags
Green Green List (high evidence)	UBIAD1 Vitamin metabolism disorders v1.7	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Schnyder corneal dystrophy MONDO:0007374 MIM#611632 Other disorders of vitamin metabolism Tags
Green Green List (high evidence)	UGGT1 Congenital Disorders of Glycosylation v1.82	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type IICC, MIM# 621381 Tags
Green Green List (high evidence)	UGT1A1 Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes 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)	UGT1A1 Haem degradation and bilirubin metabolism defects v0.19	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of haem degradation and bilirubin metabolism Crigler-Najjar syndrome type 1 MONDO:0021020, Crigler-Najjar syndrome type 2 MONDO:0011725 Tags
Green Green List (high evidence)	UMPS Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Orotic aciduria, MIM# 258900 Tags
Green Green List (high evidence)	UMPS Nucleotide metabolism disorders v0.8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Victorian Clinical Genetics Services Phenotypes Orotic aciduria, MIM# 258900 Tags
Green Green List (high evidence)	UNG Nucleotide metabolism disorders v0.8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes hyper-IgM syndrome type 5 MONDO:0011971 Disorders of ectonucleotide and nucleic acid metabolism Tags
Green Green List (high evidence)	UPB1 Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Beta-ureidopropionase deficiency, MIM# 613161 Tags
Green Green List (high evidence)	UPB1 Nucleotide metabolism disorders v0.8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Beta-ureidopropionase deficiency MONDO:0013164 Disorders of pyrimidine metabolism Tags
Green Green List (high evidence)	UQCC2 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex III deficiency, nuclear type 7 - MIM#615824 Tags
Green Green List (high evidence)	UQCRB Mitochondrial disease v1.14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex III deficiency, nuclear type 3, MIM# 615158 Tags
Green Green List (high evidence)	UQCRC2 Mitochondrial disease v1.14	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex III deficiency, nuclear type 5, MIM# 615160 Tags
Green Green List (high evidence)	UQCRFS1 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial Complex III deficiency lactic acidosis fetal bradycardia hypertrophic cardiomyopathy alopecia totalis Tags
Green Green List (high evidence)	UROD Haem degradation and bilirubin metabolism defects v0.19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Porphyria cutanea tarda (Porphyrias with erosive photodermatosis) Tags
Green Green List (high evidence)	UROS Haem degradation and bilirubin metabolism defects v0.19	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Porphyrias with erosive photodermatosis Porphyria, congenital erythropoietic 263700 Tags
Green Green List (high evidence)	VARS2 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 20 OMIM #615917 Tags
Green Green List (high evidence)	VCP Mitochondrial disease v1.14	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes 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)	VDR Vitamin metabolism disorders v1.7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes vitamin D-dependent rickets, type 2A MONDO:0010186, Other disorders of vitamin metabolism Tags
Green Green List (high evidence)	VIPAS39 Lysosomal Storage Disorder v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, MIM# 613404 Tags
Green Green List (high evidence)	VKORC1 Vitamin metabolism disorders v1.7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes vitamin K-dependent clotting factors, combined deficiency of, type 2 MONDO:0011837 Other disorders of vitamin metabolism Tags
Green Green List (high evidence)	VMA21 Congenital Disorders of Glycosylation v1.82	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Myopathy, X-linked, with excessive autophagy (MIM#310440) Tags
Green Green List (high evidence)	VPS13C Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Early-onset Parkinson disease-23, MIM# 616840 Tags
Green Green List (high evidence)	VPS13D Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia, autosomal recessive 4, MIM# 607317 Tags
Green Green List (high evidence)	VPS16 Lysosomal Storage Disorder v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes mucopolysaccharidosis-like disorder, VPS16-related MONDO#0100365 Tags
Green Green List (high evidence)	VPS33A Lysosomal Storage Disorder v1.27	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mucopolysaccharidosis-plus syndrome (MIM#617303) Tags
Green Green List (high evidence)	VPS33B Lysosomal Storage Disorder v1.27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1, MIM# 208085 Tags
Green Green List (high evidence)	WARS2 Mitochondrial disease v1.14	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 Phenotypes 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)	WDR45 Miscellaneous Metabolic Disorders v1.60	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 Phenotypes Neurodegeneration with brain iron accumulation 5, MIM# 300894 Tags
Green Green List (high evidence)	WDR45 Lysosomal Storage Disorder v1.27	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 Phenotypes Disorders of autophagy X-linked complex neurodevelopmental disorder MONDO:0100148 Tags
Green Green List (high evidence)	WFS1 Monogenic Diabetes v0.202	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Wolfram-like syndrome, autosomal dominant, 614296 Wolfram syndrome, 222300 Deafness, autosomal dominant 6/14/38, 600965 ?Cataract 41,116400 {Diabetes mellitus, noninsulin-dependent, association with}, 125853 Deafness,autosomal dominant 6/14/38, 600965 {Diabetes mellitus, noninsulin-dependent,association with} diabetes insipidus or optic atrophy Tags
Green Green List (high evidence)	WRN Monogenic Diabetes v0.202	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Werner syndrome, MIM# 277700 MONDO:0010196 Tags
Green Green List (high evidence)	XDH Nucleotide metabolism disorders v0.8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes xanthinuria type I MONDO:0010209 Disorders of purine metabolism Tags
Green Green List (high evidence)	XPNPEP3 Aminoacidopathy v1.139	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Nephronophthisis-like nephropathy 1 MONDO:0013163 Tags
Green Green List (high evidence)	XYLT1 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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 v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Desbuquois dysplasia 2 MIM#615777 Tags
Green Green List (high evidence)	XYLT2 Congenital Disorders of Glycosylation v1.82	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spondyloocular syndrome MIM# 605822 Tags
Green Green List (high evidence)	YARS2 Mitochondrial disease v1.14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes 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)	YIPF5 Monogenic Diabetes v0.202	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278 Tags
Green Green List (high evidence)	ZBTB20 Monogenic Diabetes v0.202	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Primrose syndrome MONDO:0009798 Primrose syndrome (tall stature, macrocephaly, intellectual disability, disturbed behaviour, unusual facial features, diabetes, deafness, progressive muscle wasting and ectopic calcifications) Primrose syndrome, 259050 Tags
Green Green List (high evidence)	ZFP57 Monogenic Diabetes v0.202	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Diabetes mellitus, transient neonatal, 1, MIM#601410 Tags
Green Green List (high evidence)	ZFYVE26 Lysosomal Storage Disorder v1.27	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of autophagy hereditary spastic paraplegia 15 MONDO:0010044 Tags
Green Green List (high evidence)	ZMPSTE24 Monogenic Diabetes v0.202	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mandibuloacral dysplasia with type B lipodystrophy, 608612 Tags
Green Green List (high evidence)	ZNF808 Monogenic Diabetes v0.202	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pancreatic agenesis 3, MIM# 620991 Tags
Amber Amber List (moderate evidence)	AASS Miscellaneous Metabolic Disorders v1.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Victorian Clinical Genetics Services Phenotypes Hyperlysinemia, MIM# 238700 Tags disputed
Amber Amber List (moderate evidence)	ACADS Fatty Acid Oxidation Defects v1.15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470 MONDO:0008722 Tags
Amber Amber List (moderate evidence)	ACADS Mitochondrial disease v1.14	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature NHS GMS Phenotypes Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470 MONDO:0008722 Tags
Amber Amber List (moderate evidence)	ACSF3 Miscellaneous Metabolic Disorders v1.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Combined malonic and methylmalonic aciduria MIM#614265 Tags
Amber Amber List (moderate evidence)	AP5B1 Lysosomal Storage Disorder v1.27	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Hereditary macular dystrophy MONDO:0020242, AP-5 complex-related Tags
Amber Amber List (moderate evidence)	APOO Mitochondrial disease v1.14	3 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Literature Phenotypes 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)	ATP5B Mitochondrial disease v1.14	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Inherited dystonia, MONDO:0044807, ATP5B-related Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, MIM# 620085 Tags
Amber Amber List (moderate evidence)	BLVRA Haem degradation and bilirubin metabolism defects v0.19	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Disorders of haem degradation and bilirubin metabolism hyperbiliverdinemia MONDO:0013595 Tags
Amber Amber List (moderate evidence)	BMP6 Metal Metabolism Disorders v0.52	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS Genomic Medicine Service Genomics England PanelApp Phenotypes {Iron overload, susceptibility to} 620121 Tags
Amber Amber List (moderate evidence)	CD320 Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Methylmalonic aciduria, transient, due to transcobalamin receptor defect MIM#613646 Disorders of cobalamin absorption, transport and metabolism Tags
Amber Amber List (moderate evidence)	CD320 Vitamin metabolism disorders v1.7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Methylmalonic acidemia due to transcobalamin receptor defect MONDO:0013341 Tags
Amber Amber List (moderate evidence)	CEP89 Mitochondrial disease v1.14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex IV deficiency Tags
Amber Amber List (moderate evidence)	CETP Dyslipidaemia v0.47	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Hyperalphalipoproteinemia MIM#143470 Disorders of high density lipoprotein metabolism Tags
Amber Amber List (moderate evidence)	CLCN7 Lysosomal Storage Disorder v1.27	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541 Tags
Amber Amber List (moderate evidence)	CMPK2 Mitochondrial disease v1.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes bilateral striopallidodentate calcinosis, MONDO:0008947, CMPK2-related Tags
Amber Amber List (moderate evidence)	CNOT1 Monogenic Diabetes v0.202	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Literature Phenotypes Holoprosencephaly 12 with or without pancreatic agenesis MONDO:0032787 Tags
Amber Amber List (moderate evidence)	COG3 Congenital Disorders of Glycosylation v1.82	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Congenital disorder of glycosylation, type IIbb, MIM# 620546 Tags
Amber Amber List (moderate evidence)	COX14 Mitochondrial disease v1.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex IV deficiency, nuclear type 10, MIM# 619053 Tags
Amber Amber List (moderate evidence)	COX16 Mitochondrial disease v1.14	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes 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 v1.14	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes 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)	CRAT Mitochondrial disease v1.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodegeneration with brain iron accumulation 8, MIM# 617917 Leigh syndrome Tags
Amber Amber List (moderate evidence)	CREB3L3 Dyslipidaemia v0.47	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Hypertriglyceridaemia-2, MIM#619324 Tags
Amber Amber List (moderate evidence)	CTH Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Cystathioninuria MIM#219500 Tags
Amber Amber List (moderate evidence)	CYB5A Haem degradation and bilirubin metabolism defects v0.19	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Disorders of haem degradation and bilirubin metabolism methemoglobinemia type 4 MONDO:0009605 Tags
Amber Amber List (moderate evidence)	DCXR Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Pentosuria MIM#260800 Disorders of pentose metabolism Tags
Amber Amber List (moderate evidence)	DNAJA3 Mitochondrial disease v1.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mitochondrial disease, MONDO:0044970, DNAJA3-related Tags
Amber Amber List (moderate evidence)	DYRK1B Monogenic Diabetes v0.202	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes) Abdominal obesity-metabolic syndrome 3, 615812 Tags
Amber Amber List (moderate evidence)	EBP Peroxisomal Disorders v0.61	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 Phenotypes Chondrodysplasia punctata, X-linked dominant (MIM#302960) Tags
Amber Amber List (moderate evidence)	EPHX1 Monogenic Diabetes v0.202	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Hereditary lipodystrophy, MONDO:0020087, EPHX1-related Tags
Amber Amber List (moderate evidence)	ERAL1 Mitochondrial disease v1.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Perrault syndrome 6, MIM# 617565 Tags
Amber Amber List (moderate evidence)	EXOSC3 Mitochondrial disease v1.14	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Expert list Phenotypes Pontocerebellar hypoplasia, type 1B 614678 Intellectual disability Microcephaly Hypotonia Mitochondrial dysfunction Tags
Amber Amber List (moderate evidence)	FECH Metal Metabolism Disorders v0.52	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS Genomic Medicine Service Expert Review Amber Genomics England PanelApp Phenotypes EPP1 177000 PROTOPORPHYRIA, ERYTHROPOIETIC, 1 Tags
Amber Amber List (moderate evidence)	FICD Monogenic Diabetes v0.202	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Monogenic diabetes, MONDO:0015967, FICD-related Tags
Amber Amber List (moderate evidence)	FXYD2 Metal Metabolism Disorders v0.52	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Phenotypes Renal hypomagnesemia 2 MONDO:0007937, Disorders of magnesium metabolism Tags
Amber Amber List (moderate evidence)	GATA1 Haem degradation and bilirubin metabolism defects v0.19	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367 Congenital erythropoietic porphyria Tags
Amber Amber List (moderate evidence)	GATB Mitochondrial disease v1.14	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes inborn mitochondrial metabolism disorder MONDO:0004069 Tags
Amber Amber List (moderate evidence)	GGT1 Miscellaneous Metabolic Disorders v1.60	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Glutathioninuria MIM#231950 Disorders of the gamma-glutamyl cycle Tags SV/CNV
Amber Amber List (moderate evidence)	GSR Aminoacidopathy v1.139	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Phenotypes Hemolytic anemia due to glutathione reductase deficiency MONDO:0019531 Disorders of glutathione metabolism Tags
Amber Amber List (moderate evidence)	HAL Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Histidinemia MIM#235800 Disorders of histidine, tryptophan or lysine metabolism Tags
Amber Amber List (moderate evidence)	HYAL1 Lysosomal Storage Disorder v1.27	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mucopolysaccharidosis type IX, MIM# 601492 MONDO:0011093 Tags
Amber Amber List (moderate evidence)	IDH3B Mitochondrial disease v1.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Retinitis pigmentosa 46, MIM# 612572 Tags
Amber Amber List (moderate evidence)	KHK Miscellaneous Metabolic Disorders v1.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Fructosuria MIM#229800 Disorders of fructose metabolism Tags
Amber Amber List (moderate evidence)	LYRM4 Mitochondrial disease v1.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 19, MIM# 615595 Tags
Amber Amber List (moderate evidence)	MAN2A2 Congenital Disorders of Glycosylation v1.82	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Congenital disorder of glycosylation, MONDO:0015286, MAN2A2-reated Tags
Amber Amber List (moderate evidence)	MANF Monogenic Diabetes v0.202	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Diabetes, deafness, developmental delay, and short stature syndrome, MIM# 620651 Tags
Amber Amber List (moderate evidence)	MARS2 Mitochondrial disease v1.14	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 Phenotypes Combined oxidative phosphorylation deficiency 25, OMIM #616430 Spastic ataxia 3, autosomal recessive, OMIM #611390 Tags
Amber Amber List (moderate evidence)	MPC2 Mitochondrial disease v1.14	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Expert Review Amber Literature Phenotypes mitochondrial pyruvate carrier deficiency, MONDO:0013877, MPC2-related Tags
Amber Amber List (moderate evidence)	MRPL50 Mitochondrial disease v1.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mitochondrial disease, MONDO: 004470, MRPL50-related Tags
Amber Amber List (moderate evidence)	MRPS14 Mitochondrial disease v1.14	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Combined oxidative phosphorylation deficiency 38, MIM# 618378 Tags
Amber Amber List (moderate evidence)	MRPS16 Mitochondrial disease v1.14	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 Phenotypes Combined oxidative phosphorylation deficiency 2 OMIM #610498 Tags
Amber Amber List (moderate evidence)	MRPS36 Mitochondrial disease v1.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Leigh syndrome - MONDO:0009723, MRPS36/KGD4-related Tags new gene name
Amber Amber List (moderate evidence)	MRPS7 Mitochondrial disease v1.14	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 34, MIM# 617872 Tags
Amber Amber List (moderate evidence)	MT-ATP8 Mitochondrial disease v1.14	1 review	MITOCHONDRIAL	Sources Expert Review Amber Expert list Phenotypes Mitochondrial disease MONDO:0044970, MT-ATP8 related Tags mtDNA
Amber Amber List (moderate evidence)	MT-ND4L Mitochondrial disease v1.14	1 review	MITOCHONDRIAL	Sources Expert Review Amber Expert list Phenotypes Mitochondrial disease (MONDO:0044970), MT-ND4L-related Tags mtDNA
Amber Amber List (moderate evidence)	MT-TC Mitochondrial disease v1.14	1 review	MITOCHONDRIAL	Sources Expert Review Amber Expert list Phenotypes Mitochondrial disease (MONDO:0044970), MT-TC-related Tags mtDNA
Amber Amber List (moderate evidence)	MT-TQ Mitochondrial disease v1.14	1 review	MITOCHONDRIAL	Sources Expert Review Amber Expert list Phenotypes Mitochondrial disease (MONDO:0044970), MT-TQ-related Tags mtDNA
Amber Amber List (moderate evidence)	MTERF3 Mitochondrial disease v1.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mitochondrial disease (MONDO:0044970), MTERF3-related Tags
Amber Amber List (moderate evidence)	NDUFA11 Mitochondrial disease v1.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 14, MIM#618236 Tags
Amber Amber List (moderate evidence)	NDUFA8 Mitochondrial disease v1.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mitochondrial complex I deficiency, nuclear type 37, MIM# 619272 Developmental delay microcehaly seizures Tags
Amber Amber List (moderate evidence)	NDUFB9 Mitochondrial disease v1.14	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex I deficiency, nuclear type 24, MIM#618245 Tags
Amber Amber List (moderate evidence)	NDUFC2 Mitochondrial disease v1.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Mitochondrial complex I deficiency, nuclear type 36, MIM# 619170 Tags
Amber Amber List (moderate evidence)	NSMCE2 Monogenic Diabetes v0.202	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Literature Phenotypes Seckel syndrome 10, MONDO:0014991 Tags
Amber Amber List (moderate evidence)	NUS1 Congenital Disorders of Glycosylation v1.82	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type 1aa, MIM#610463 Tags
Amber Amber List (moderate evidence)	OPLAH Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes 5-oxoprolinase deficiency MIM#260005 Disorders of the gamma-glutamyl cycle Tags
Amber Amber List (moderate evidence)	OXA1L Mitochondrial disease v1.14	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Amber NHS GMS NHS GMS Phenotypes OXA1L-related combined oxidative phosphorylation deficiency MONDO:0000732 Tags
Amber Amber List (moderate evidence)	P4HTM Mitochondrial disease v1.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities OMIM #618493 Tags
Amber Amber List (moderate evidence)	PCBD1 Neurotransmitter Defects v1.8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Hyperphenylalaninemia, BH4-deficient, D, MIM# 264070 Tags
Amber Amber List (moderate evidence)	PCK2 Mitochondrial disease v1.14	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Literature Phenotypes Peripheral neuropathy (MONDO#0005244), PCK2-related Tags
Amber Amber List (moderate evidence)	PCYT1A Monogenic Diabetes v0.202	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Lipodystrophy, congenital generalized, type 5, MIM# 620680 Tags
Amber Amber List (moderate evidence)	PFAS Miscellaneous Metabolic Disorders v1.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Literature Phenotypes Inborn error of metabolism, MONDO:0019052, PFAS-related Tags
Amber Amber List (moderate evidence)	PIGM Congenital Disorders of Glycosylation v1.82	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes 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
Amber Amber List (moderate evidence)	PIGU Congenital Disorders of Glycosylation v1.82	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Glycosylphosphatidylinositol biosynthesis defect 21, OMIM #618590 Tags
Amber Amber List (moderate evidence)	POFUT1 Congenital Disorders of Glycosylation v1.82	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Dowling-Degos disease 2 (MIM# 615327) Tags
Amber Amber List (moderate evidence)	PPM1K Aminoacidopathy v1.139	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Maple syrup urine disease, mild variant MONDO:0014057 Tags
Amber Amber List (moderate evidence)	PPP1R15B Monogenic Diabetes v0.202	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability,616817 Tags
Amber Amber List (moderate evidence)	RNU6ATAC Monogenic Diabetes v0.202	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Literature Phenotypes Neurodevelopmental disorder (MONDO:0700092), RNU6ATAC-related neonatal diabetes Tags non-coding gene
Amber Amber List (moderate evidence)	RRM1 Mitochondrial disease v1.14	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Expert Review Amber Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6, MIM# 620647 Tags
Amber Amber List (moderate evidence)	SARDH Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Sarcosinemia MIM#268900 Disorders of serine, glycine or glycerate metabolism Tags
Amber Amber List (moderate evidence)	SCARB1 Dyslipidaemia v0.47	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes High density lipoprotein cholesterol level QTL6 MIM#610762 Scavenger receptor class B type I deficiency Inherited hypolipidaemias Tags
Amber Amber List (moderate evidence)	SCP2 Peroxisomal Disorders v0.61	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724 Tags
Amber Amber List (moderate evidence)	SGMS1 Lysosomal Storage Disorder v1.27	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Phenotypes complex neurodevelopmental disorder MONDO:0100038 Tags
Amber Amber List (moderate evidence)	SHPK Miscellaneous Metabolic Disorders v1.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Sedoheptulokinase deficiency MIM#617213 Tags
Amber Amber List (moderate evidence)	SIDT2 Lysosomal Storage Disorder v1.27	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Lysosomal storage disease, MONDO:0002561, SIDT2-related Tags
Amber Amber List (moderate evidence)	SLC10A2 Haem degradation and bilirubin metabolism defects v0.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes bile acid malabsorption, primary, 1 MONDO:0013214 Disorders of bile acid metabolism Tags
Amber Amber List (moderate evidence)	SLC1A1 Aminoacidopathy v1.139	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber ClinGen Phenotypes dicarboxylic aminoaciduria MONDO:0009110 Tags
Amber Amber List (moderate evidence)	SLC1A1 Miscellaneous Metabolic Disorders v1.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Dicarboxylic aminoaciduria, MIM#222730 Tags
Amber Amber List (moderate evidence)	SLC25A10 Mitochondrial disease v1.14	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Intractable epileptic encephalopathy Mitochondrial DNA depletion syndrome 19, MIM# 618972 Tags
Amber Amber List (moderate evidence)	SLC25A21 Mitochondrial disease v1.14	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Expert Review Amber NHS GMS Phenotypes Mitochondrial DNA depletion syndrome-18 MIM#618811 Tags
Amber Amber List (moderate evidence)	SLC26A2 Congenital Disorders of Glycosylation v1.82	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Skeletal dysplasia (various) Tags
Amber Amber List (moderate evidence)	SLC36A2 Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Hyperglycinuria MIM#138500 Iminoglycinuria, digenic MIM#242600 Disorders of amino acid transport Tags
Amber Amber List (moderate evidence)	SLC39A8 Mitochondrial disease v1.14	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIn MIM#616721 Tags
Amber Amber List (moderate evidence)	SLC6A6 Aminoacidopathy v1.139	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber ClinGen Phenotypes hypotaurinemic retinal degeneration and cardiomyopathy MONDO:0007777 Tags
Amber Amber List (moderate evidence)	SLC9A7 Congenital Disorders of Glycosylation v1.82	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Expert list Phenotypes Intellectual developmental disorder, X-linked 108, OMIM #301024 Tags
Amber Amber List (moderate evidence)	SMDT1 Mitochondrial disease v1.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mitochondrial disease, MONDO:0044970, SMDT1-related Tags
Amber Amber List (moderate evidence)	SQOR Mitochondrial disease v1.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Leigh-like disorder Sulfide:quinone oxidoreductase deficiency (SQORD), MIM#619221 Tags
Amber Amber List (moderate evidence)	SSR3 Congenital Disorders of Glycosylation v1.82	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Congenital disorder of glycosylation Tags
Amber Amber List (moderate evidence)	STRA6 Vitamin metabolism disorders v1.7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Matthew-Wood syndrome MONDO:0011010 Other disorders of vitamin metabolism Tags
Amber Amber List (moderate evidence)	STX5 Congenital Disorders of Glycosylation v1.82	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes congenital disorder of glycosylation MONDO#0015286, STX5-related Tags
Amber Amber List (moderate evidence)	SUGCT Miscellaneous Metabolic Disorders v1.60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Glutaric aciduria III MIM#231690 Organic acidurias Tags
Amber Amber List (moderate evidence)	SUGCT Aminoacidopathy v1.139	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber ClinGen Phenotypes glutaric acidemia type 3 MONDO:0009283 Tags
Amber Amber List (moderate evidence)	SUPV3L1 Mitochondrial disease v1.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mitochondrial disease, MONDO:0044970 Tags
Amber Amber List (moderate evidence)	TARS2 Monogenic Diabetes v0.202	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert List Phenotypes Combined oxidative phosphorylation defect type 21, MONDO:0014398 Tags
Amber Amber List (moderate evidence)	TCN1 Vitamin metabolism disorders v1.7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes transcobalamin I deficiency MONDO:0008659 Tags
Amber Amber List (moderate evidence)	TFRC Metal Metabolism Disorders v0.52	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Disorders of iron metabolism TFRC-related combined immunodeficiency MONDO:0014760 Tags
Amber Amber List (moderate evidence)	TIMM22 Mitochondrial disease v1.14	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Amber NHS GMS NHS GMS Phenotypes Mitochondrial disease, MONDO:0044970, TIMM22-related Tags
Amber Amber List (moderate evidence)	TMEM65 Mitochondrial disease v1.14	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Amber NHS GMS NHS GMS Phenotypes Mitochondrial disease, MONDO:0044970, TMEM65-related Tags
Amber Amber List (moderate evidence)	TOMM7 Mitochondrial disease v1.14	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Expert Review Amber Literature Phenotypes Garg-Mishra progeroid syndrome, MIM# 620601 Tags
Amber Amber List (moderate evidence)	TOMM70 Mitochondrial disease v1.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mitochondrial disease, MONDO:0044970, TOMM70-related Tags
Amber Amber List (moderate evidence)	TRAPPC11 Congenital Disorders of Glycosylation v1.82	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 18 MIM# 615356 Tags
Amber Amber List (moderate evidence)	TXN2 Mitochondrial disease v1.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Combined oxidative phosphorylation deficiency 29, MIM# 616811 Tags
Amber Amber List (moderate evidence)	TXNIP Miscellaneous Metabolic Disorders v1.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Literature Phenotypes Metabolic disease MONDO:0005066, TXNIP-related Tags
Amber Amber List (moderate evidence)	UQCC3 Mitochondrial disease v1.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex III deficiency, nuclear type 9, MIM# 616111 Tags
Amber Amber List (moderate evidence)	UQCRH Mitochondrial disease v1.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mitochondrial complex III deficiency, nuclear type 11, MIM#620137 Tags
Amber Amber List (moderate evidence)	UQCRQ Mitochondrial disease v1.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex III deficiency, nuclear type 4, MIM# 615159 Tags
Amber Amber List (moderate evidence)	UROC1 Aminoacidopathy v1.139	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber ClinGen Phenotypes urocanic aciduria MONDO:0010167 Tags
Amber Amber List (moderate evidence)	UROC1 Miscellaneous Metabolic Disorders v1.60	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Urocanase deficiency, MIM#276880 Tags
Amber Amber List (moderate evidence)	USMG5 Mitochondrial disease v1.14	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6 MIM#618683 Tags new gene name
Amber Amber List (moderate evidence)	YME1L1 Mitochondrial disease v1.14	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Expert Review Amber NHS GMS Phenotypes Optic atrophy 11 MIM#617302 Mitochondrial disease, MONDO:0044970, YME1L1-related Tags
Amber Amber List (moderate evidence)	ZNF143 Vitamin metabolism disorders v1.7	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Expert Review Red Expert Review Phenotypes methylmalonic aciduria and homocystinuria MONDO:0016826 Tags
Red Red List (low evidence)	ABCB6 Haem degradation and bilirubin metabolism defects v0.19	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes familial pseudohyperkalemia MONDO:0012204 Disorders of heme synthesis and porphyrias Tags
Red Red List (low evidence)	ABCD3 Peroxisomal Disorders v0.61	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Bile acid synthesis defect, congenital, 5 (MIM#616278) Tags
Red Red List (low evidence)	ACADL Fatty Acid Oxidation Defects v1.15	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Long chain acyl-CoA dehydrogenase deficiency MONDO:0020531 Tags disputed
Red Red List (low evidence)	ACSL5 Fatty Acid Oxidation Defects v1.15	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Diarrhoea 13, MIM# 620357 Tags
Red Red List (low evidence)	ADRA2A Monogenic Diabetes v0.202	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Genomics England PanelApp Phenotypes Lipodystrophy, familial partial, type 8, OMIM #620679 Tags
Red Red List (low evidence)	AGPS Monogenic Diabetes v0.202	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Lipodystrophy, congenital generalized, type 1, 608594 Tags
Red Red List (low evidence)	AGXT2 Nucleotide metabolism disorders v0.8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Beta-aminoisobutyric acid, urinary excretion of MIM#210100 Tags
Red Red List (low evidence)	AKT2 Monogenic Diabetes v0.202	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS Phenotypes Diabetes mellitus, type II, 125853 Tags
Red Red List (low evidence)	ALDH1A3 Vitamin metabolism disorders v1.7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Isolated microphthalmia 8 MONDO:0014050 Other disorders of vitamin metabolism Tags
Red Red List (low evidence)	ALDOB Glycogen Storage Diseases v1.4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Fructose intolerance, hereditary, MIM# 229600 Tags
Red Red List (low evidence)	ALG10 Congenital Disorders of Glycosylation v1.82	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Congenital disorder of glycosylation, MONDO:0015286, ALG10-related Tags
Red Red List (low evidence)	ALPL Neurotransmitter Defects v1.8	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Hypophosphatasia Tags
Red Red List (low evidence)	ALPL Vitamin metabolism disorders v1.7	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert review Green Phenotypes disorder of bone metabolism Hypophosphatasia Disorders of pyridoxine metabolism Tags
Red Red List (low evidence)	AMPD1 Nucleotide metabolism disorders v0.8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Red Victorian Clinical Genetics Services Phenotypes adenosine monophosphate deaminase deficiency MONDO:0013028 Tags
Red Red List (low evidence)	AMPD3 Nucleotide metabolism disorders v0.8	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Red Victorian Clinical Genetics Services Phenotypes adenosine monophosphate deaminase deficiency MONDO:0013028 Tags
Red Red List (low evidence)	APOC3 Dyslipidaemia v0.47	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Apolipoprotein C-III deficiency MIM#614028 Tags
Red Red List (low evidence)	APPL1 Monogenic Diabetes v0.202	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS Royal Melbourne Hospital Phenotypes {Maturity-onset diabetes of the young, type 14}, 616511 Diabetes Tags
Red Red List (low evidence)	ARHGEF9 Neurotransmitter Defects v1.8	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 8, MIM# 300607 Tags
Red Red List (low evidence)	ATP5F1 Mitochondrial disease v1.14	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation-2 (HUMOP2), MIM#620085 Tags
Red Red List (low evidence)	ATPAF2 Mitochondrial disease v1.14	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, OMIM# 604273 Tags
Red Red List (low evidence)	BCO1 Vitamin metabolism disorders v1.7	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes Other disorders of vitamin metabolism hereditary hypercarotenemia and vitamin A deficiency MONDO:0007272 Tags
Red Red List (low evidence)	BLK Monogenic Diabetes v0.202	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Expert Review Red Illumina TruGenome Clinical Sequencing Services Royal Melbourne Hospital Phenotypes Maturity-onset diabetes of the young, type 11, 613375 Maturity Onset Diabetes of the Young Tags refuted
Red Red List (low evidence)	CAMLG Congenital Disorders of Glycosylation v1.82	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Congenital disorder of glycosylation type IIz, OMIM #: 620201 Tags
Red Red List (low evidence)	CHST8 Congenital Disorders of Glycosylation v1.82	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Peeling Skin Syndrome Tags
Red Red List (low evidence)	CIDEC Monogenic Diabetes v0.202	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes CIDEC-related familial partial lipodystrophy MONDO:0014098 Tags
Red Red List (low evidence)	COA3 Mitochondrial disease v1.14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex IV deficiency, nuclear type 14, MIM#619058 Tags
Red Red List (low evidence)	COA5 Mitochondrial disease v1.14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500 Tags
Red Red List (low evidence)	COG2 Congenital Disorders of Glycosylation v1.82	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIq (MIM# 617395) Tags
Red Red List (low evidence)	COQ9 Monogenic Diabetes v0.202	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome MONDO:0013840 Tags
Red Red List (low evidence)	COX4I2 Mitochondrial disease v1.14	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, MIM#612714 Tags
Red Red List (low evidence)	COX8A Mitochondrial disease v1.14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex IV deficiency, nuclear type 15, MIM#619059 Tags
Red Red List (low evidence)	CYBRD1 Metal Metabolism Disorders v0.52	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS Genomic Medicine Service Genomics England PanelApp Phenotypes Iron metabolism disease, MONDO:0002279, CYBRD1-related Tags
Red Red List (low evidence)	DMGDH Aminoacidopathy v1.139	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red ClinGen Phenotypes dimethylglycine dehydrogenase deficiency MONDO:0011610 Tags
Red Red List (low evidence)	DMGDH Miscellaneous Metabolic Disorders v1.60	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Dimethylglycine dehydrogenase deficiency MIM#605850 Tags
Red Red List (low evidence)	DMXL2 Monogenic Diabetes v0.202	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Other Phenotypes Polyendocrine-polyneuropathy syndrome , MIM# 616113 Tags
Red Red List (low evidence)	DSE Congenital Disorders of Glycosylation v1.82	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Ehlers-Danlos syndrome, musculocontractural type 2 (MIM# 615539) Tags
Red Red List (low evidence)	EPHX1 Vitamin metabolism disorders v1.7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Familial hypercholanemia MONDO:0011905 Other disorders of vitamin metabolism Tags
Red Red List (low evidence)	ERCC6L2 Mitochondrial disease v1.14	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Bone marrow failure syndrome 2, MIM#615715 Tags
Red Red List (low evidence)	FAM136A Mitochondrial disease v1.14	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Meniere's disease Tags
Red Red List (low evidence)	FOXC2 Monogenic Diabetes v0.202	1 review	Unknown	Sources Radboud University Medical Center, Nijmegen Expert Review Red Phenotypes Lymphedema-distichiasis syndrome, 153400 Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400 Tags
Red Red List (low evidence)	FTH1 Metal Metabolism Disorders v0.52	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS Genomic Medicine Service Genomics England PanelApp Phenotypes Hemochromatosis, type 5, MIM# 615517 Tags 5'UTR
Red Red List (low evidence)	GATC Mitochondrial disease v1.14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Mitochondrial cardiomyopathy Tags
Red Red List (low evidence)	GCSH Miscellaneous Metabolic Disorders v1.60	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Glycine encephalopathy MIM#605899 Disorders of serine, glycine or glycerate metabolism Tags
Red Red List (low evidence)	GET4 Congenital Disorders of Glycosylation v1.82	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes ?Congenital disorder of glycosylation,, type IIy MIM#620200 Tags
Red Red List (low evidence)	GLYAT Miscellaneous Metabolic Disorders v1.60	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, GLYAT-related Tags
Red Red List (low evidence)	GMPR Mitochondrial disease v1.14	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes progressive external ophthalmoplegia Tags
Red Red List (low evidence)	GNMT Aminoacidopathy v1.139	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red ClinGen Phenotypes glycine N-methyltransferase deficiency MONDO:0011698 Tags
Red Red List (low evidence)	GPHN Neurotransmitter Defects v1.8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Molybdenum cofactor deficiency C, MIM# 615501 Tags
Red Red List (low evidence)	HAL Aminoacidopathy v1.139	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red ClinGen Phenotypes histidinemia MONDO:0009345 Tags
Red Red List (low evidence)	HEPH Metal Metabolism Disorders v0.52	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 Phenotypes Iron metabolism defect Tags
Red Red List (low evidence)	HEPHL1 Metal Metabolism Disorders v0.52	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red ClinGen Phenotypes pili torti-developmental delay-neurological abnormalities syndrome MONDO:0009871 Tags
Red Red List (low evidence)	HFE Haem degradation and bilirubin metabolism defects v0.19	2 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes {Porphyria cutanea tarda, susceptibility to}, 176100 {Porphyria variegata, susceptibility to}, 176200 Tags
Red Red List (low evidence)	HIBADH Aminoacidopathy v1.139	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red ClinGen Phenotypes 3-hydroxyisobutyric aciduria MONDO:0009371 Tags
Red Red List (low evidence)	HIBADH Miscellaneous Metabolic Disorders v1.60	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes organic aciduria Tags
Red Red List (low evidence)	HYKK Aminoacidopathy v1.139	1 review 1 red	Unknown	Sources Expert Review Red ClinGen Phenotypes inborn disorder of lysine and hydroxylysine metabolism MONDO:0017351 Tags
Red Red List (low evidence)	KIF5A Mitochondrial disease v1.14	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Red NHS GMS Victorian Clinical Genetics Services Phenotypes Myoclonus, intractable, neonatal MIM#617235 Tags
Red Red List (low evidence)	KLF11 Monogenic Diabetes v0.202	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert Review Royal Melbourne Hospital Phenotypes Maturity-onset diabetes of the young, type VII, 610508 Maturity Onset Diabetes of the Young Tags refuted
Red Red List (low evidence)	KMO Aminoacidopathy v1.139	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red ClinGen Phenotypes pellagra MONDO:0019975 Tags
Red Red List (low evidence)	LIPC Monogenic Diabetes v0.202	1 review 1 red	Unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes {Diabetes mellitus, noninsulin-dependent}, MIM#125853 Tags
Red Red List (low evidence)	ME2 Mitochondrial disease v1.14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes inborn disorder of energy metabolism MONDO:0019243 Tags
Red Red List (low evidence)	MICU2 Mitochondrial disease v1.14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes cognitive impairment spasticity white matter involvement Tags
Red Red List (low evidence)	MIEF1 Mitochondrial disease v1.14	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Optic atrophy 14 (MIM#620550) Tags
Red Red List (low evidence)	MIEF2 Mitochondrial disease v1.14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes 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)	MPST Aminoacidopathy v1.139	1 review 1 red	Unknown	Sources Expert Review Red ClinGen Phenotypes encephalopathy due to beta-mercaptolactate-cysteine disulfiduria MONDO:0009585 Tags
Red Red List (low evidence)	MRPL12 Mitochondrial disease v1.14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Growth retardation neurological deterioration mitochondrial translation deficiency Combined oxidative phosphorylation deficiency 45, MIM#618951 Tags
Red Red List (low evidence)	MRPL42 Mitochondrial disease v1.14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes complex neurodevelopmental disorder MONDO:0100038 Tags
Red Red List (low evidence)	MRPS25 Mitochondrial disease v1.14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes 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 v1.14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Intrauterine growth retardation developmental delay dysmorphism Combined oxidative phosphorylation deficiency 47, MIM618958 Tags
Red Red List (low evidence)	MT-RNR2 Mitochondrial disease v1.14	2 reviews 2 red	MITOCHONDRIAL	Sources Expert Review Red Literature Expert Review Phenotypes mitochondrial disease MONDO:0044970, MT-RNR2-related Tags
Red Red List (low evidence)	NAT8L Miscellaneous Metabolic Disorders v1.60	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes N-acetylaspartate deficiency - MIM#614063 Tags
Red Red List (low evidence)	NAT8L Aminoacidopathy v1.139	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red ClinGen Phenotypes N-acetylaspartate deficiency MONDO:0013549 Tags
Red Red List (low evidence)	NDUFAF7 Mitochondrial disease v1.14	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS Phenotypes Pathologic myopia Tags
Red Red List (low evidence)	NFKB1 Monogenic Diabetes v0.202	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Immunodeficiency, common variable, 12 MIM# 616576 Normal-low IgG, IgA, IgM low-normal B cells low switched memory B cells hypogammaglobulinaemia recurrent respiratory and gastrointestinal infections Chronic obstructive pulmonary disease COPD EBV proliferation autoimmunity alopecia Tags
Red Red List (low evidence)	NME3 Mitochondrial disease v1.14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Hypotonia Neurodegeneration Abnormal mitochondrial dynamics Tags
Red Red List (low evidence)	NUP62 Mitochondrial disease v1.14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red ClinGen Phenotypes Leigh syndrome, MONDO:0009723 Tags disputed
Red Red List (low evidence)	OAT Hyperammonaemia v0.10	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Gyrate atrophy of choroid and retina with or without ornithinemia 258870 Tags
Red Red List (low evidence)	OPLAH Aminoacidopathy v1.139	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes 5-oxoprolinase deficiency MONDO:0009825 Disorders of glutathione metabolism Tags
Red Red List (low evidence)	OSTC Congenital Disorders of Glycosylation v1.82	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Oligosaccharyltransferase complex-congenital disorders of glycosylation Tags
Red Red List (low evidence)	PAPSS2 Congenital Disorders of Glycosylation v1.82	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Brachyolmia 4 with mild epiphyseal and metaphyseal changes MIM#612847 Tags
Red Red List (low evidence)	PAX4 Monogenic Diabetes v0.202	4 reviews 2 green 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Royal Melbourne Hospital Phenotypes Maturity-onset diabetes of the young, type IX MIM#612225 Transient neonatal diabetes mellitus, MONDO:0020525, PAX-4 related Tags refuted
Red Red List (low evidence)	PAX6 Monogenic Diabetes v0.202	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS Phenotypes Monogenic diabetes, MONDO:0015967, PAX6-related Tags
Red Red List (low evidence)	PET117 Mitochondrial disease v1.14	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 19, MIM#619063 Developmental delay Tags
Red Red List (low evidence)	PHYKPL Aminoacidopathy v1.139	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red ClinGen Phenotypes phosphohydroxylysinuria MONDO:0014008 Tags
Red Red List (low evidence)	PIGF Congenital Disorders of Glycosylation v1.82	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, MIM# 619356 Tags
Red Red List (low evidence)	PNPLA4 Mitochondrial disease v1.14	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 Phenotypes Mitochondrial disease (MONDO:0044970), PNPLA4-related Tags
Red Red List (low evidence)	POGLUT1 Congenital Disorders of Glycosylation v1.82	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 21 (MIM# 617232), Dowling-Degos disease 4 (MIM# 615696) Tags
Red Red List (low evidence)	PPA1 Miscellaneous Metabolic Disorders v1.60	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Galactosaemia, MONDO:0018116 Tags
Red Red List (low evidence)	PPARG Fatty Acid Oxidation Defects v1.15	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	PPP1R3A Monogenic Diabetes v0.202	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Insulin resistance, severe, digenic 125853 Tags
Red Red List (low evidence)	PRODH2 Aminoacidopathy v1.139	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red ClinGen Phenotypes hydroxyprolinemia MONDO:0009374 Tags
Red Red List (low evidence)	PTCD1 Mitochondrial disease v1.14	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Red NHS GMS NHS GMS Phenotypes Cardiomyopathy MONDO:0004994, PTCD1-related Tags
Red Red List (low evidence)	PYROXD2 Mitochondrial disease v1.14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Mitochondrial disease, MONDO:0044970 Tags disputed
Red Red List (low evidence)	RBP3 Vitamin metabolism disorders v1.7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Retinitis pigmentosa 66 MONDO:0014093 Other disorders of vitamin metabolism Tags
Red Red List (low evidence)	SARDH Aminoacidopathy v1.139	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red ClinGen Phenotypes sarcosinemia MONDO:0010008 Tags
Red Red List (low evidence)	SDHAF2 Mitochondrial disease v1.14	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Paragangliomas 2, MIM# 601650 Tags
Red Red List (low evidence)	SDHC Mitochondrial disease v1.14	1 review 1 red	Unknown	Sources Expert Review Red Phenotypes Mitochondrial disease MONDO:0044970 Tags
Red Red List (low evidence)	SEC23A Congenital Disorders of Glycosylation v1.82	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Craniolenticulosutural dysplasia (MIM# 607812) Tags
Red Red List (low evidence)	SIRT1 Monogenic Diabetes v0.202	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red ClinGen Phenotypes monogenic diabetes MONDO:0015967 Tags
Red Red List (low evidence)	SLC25A22 Neurotransmitter Defects v1.8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 3, MIM# 609304 Tags
Red Red List (low evidence)	SLC27A5 Miscellaneous Metabolic Disorders v1.60	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Bile acid-CoA ligase deficiency Disorders of bile acid biosynthesis Tags
Red Red List (low evidence)	SLC29A1 Nucleotide metabolism disorders v0.8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Disorders of ectonucleotide and nucleic acid metabolism Equilibrative nucleoside transporter 1 deficiency MONDO:0019052 Tags
Red Red List (low evidence)	SLC36A2 Aminoacidopathy v1.139	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red ClinGen Phenotypes iminoglycinuria MONDO:0009448 Tags
Red Red List (low evidence)	SLC6A20 Aminoacidopathy v1.139	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Other Phenotypes Hyperglycinuria MONDO:0007677 Tags
Red Red List (low evidence)	SLC7A5 Aminoacidopathy v1.139	1 review 1 red	Unknown	Sources Expert Review Red Other Phenotypes Large neutral amino acid transporter deficiency (MIM#600182) Tags
Red Red List (low evidence)	SLIRP Mitochondrial disease v1.14	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Mitochondrial encephalomyopathy with complex I and IV deficiency Tags
Red Red List (low evidence)	STAP1 Dyslipidaemia v0.47	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Familial hypercholesterolemia MONDO:0005439 Tags
Red Red List (low evidence)	STEAP3 Metal Metabolism Disorders v0.52	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS Genomic Medicine Service Genomics England PanelApp Phenotypes Severe congenital hypochromic anemia with ringed sideroblasts, MONDO:0014094 Tags disputed
Red Red List (low evidence)	STT3B Congenital Disorders of Glycosylation v1.82	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ix 615597 Tags
Red Red List (low evidence)	SUCLG2 Mitochondrial disease v1.14	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Mitochondrial disease, MONDO:0044970 Tags
Red Red List (low evidence)	TDO2 Aminoacidopathy v1.139	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red ClinGen Phenotypes familial hypertryptophanemia MONDO:0010907 Tags
Red Red List (low evidence)	TDO2 Miscellaneous Metabolic Disorders v1.60	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Hypertryptophanemia MIM#600627 Disorders of histidine, tryptophan or lysine metabolism Tags
Red Red List (low evidence)	THAP11 Vitamin metabolism disorders v1.7	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Expert Review Phenotypes Methylmalonic aciduria, cblC type-like, MIM# 620940 Inborn disorder of cobalamin metabolism and transport, MONDO:0019220, THAP11-related Tags
Red Red List (low evidence)	TIMM29 Mitochondrial disease v1.14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Sengers syndrome MONDO:0008922, TIMM29-related Tags
Red Red List (low evidence)	TPMT Nucleotide metabolism disorders v0.8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Red Victorian Clinical Genetics Services Phenotypes {Thiopurines, poor metabolism of, 1} 610460 Tags
Red Red List (low evidence)	TRIP11 Congenital Disorders of Glycosylation v1.82	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	TTPA Vitamin metabolism disorders v1.7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review green Phenotypes familial isolated deficiency of vitamin E MONDO:0010188 Other disorders of vitamin metabolism Tags
Red Red List (low evidence)	UNC13A Monogenic Diabetes v0.202	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Monogenic diabetes, MONDO:0015967, UNC13A-related Tags
Red Red List (low evidence)	XPNPEP3 Mitochondrial disease v1.14	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature NHS GMS Phenotypes Nephronophthisis-like nephropathy 1 MIM#613159 Tags

Metabolic Disorders Superpanel (Version 9.79)

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