Prepair 1000+ (Version 2.7)

Description

This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).

It has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.

Genes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.

Please note only Green genes are analysed and reported.

Panel Activity

23 reviewers

Alison Yeung (Victorian Clinical Genetics Services)
Himanshu Goel (Hunter Genetics)
Lauren Rogers (Victorian Clinical Genetics Services)
Clare Hunt (Victorian Clinical Genetics Services)
Michelle Torres (Victorian Clinical Genetics Services)
Lilian Downie (Victorian Clinical Genetics Services)
Lisa Norbart (Victorian Clinical Genetics Services)
Ee Ming Wong (Victorian Clinical Genetics Services)
Lucy Spencer (Victorian Clinical Genetics Services)
Crystle Lee (Victorian Clinical Genetics Services)
Karina Sandoval (Victorian Clinical Genetics Services)
Melanie Marty (Victorian Clinical Genetics Services)
Seb Lunke (Victorian Clinical Genetics Services)
Santosh Varughese (University of Melbourne)
Andrew Coventry (Victorian Clinical Genetics Services)
Marta Cifuentes Ochoa (Victorian Clinical Genetics Services)
Lana Giameos (Victorian Clinical Genetics Services)
Krithika Murali (Victorian Clinical Genetics Services)
Shakira Heerah (Victorian Clinical Genetics Services)
Lauren Thomas (VIctorian Clinical Genetics Services)
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Kate Scarff (Victorian Clinical Genetics Services)
Cassandra Muller (Victorian Clinical Genetics Services)

1389 Entities

1389 reviewed, 1278 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 1389 Entitiess
Green Green List (high evidence)	AAAS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Achalasia-addisonianism-alacrimia syndrome, 231550 (3) Tags
Green Green List (high evidence)	AARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Combined oxidative phosphorylation deficiency 8, 614096 (3) Tags
Green Green List (high evidence)	ABAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes GABA-transaminase deficiency, 613163 (3) Tags
Green Green List (high evidence)	ABCA12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ichthyosis, congenital, autosomal recessive 4A, 601277 (3) Tags
Green Green List (high evidence)	ABCA3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3) Tags
Green Green List (high evidence)	ABCB11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cholestasis, progressive familial intrahepatic 2, MIM# 601847 Tags
Green Green List (high evidence)	ABCB4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cholestasis, progressive familial intrahepatic 3 MIM#602347 Tags
Green Green List (high evidence)	ABCB7	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Anemia, sideroblastic, with ataxia, MIM# 301310 Tags
Green Green List (high evidence)	ABCC8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Diabetes mellitus, permanent neonatal 3, with or without neurologic features MIM#618857 Hyperinsulinemic hypoglycemia, familial, 1 MIM#256450 Tags
Green Green List (high evidence)	ABCD1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Adrenoleukodystrophy, 300100 (3) Tags
Green Green List (high evidence)	ABHD5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Chanarin-Dorfman syndrome, MIM#275630 Tags
Green Green List (high evidence)	ACAD9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial complex I deficiency due to ACAD9 deficiency, 611126 (3) Tags
Green Green List (high evidence)	ACADM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM #201450 Tags
Green Green List (high evidence)	ACADVL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes VLCAD deficiency, 201475 (3) Tags
Green Green List (high evidence)	ACAT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Alpha-methylacetoacetic aciduria, MIM#203750 Tags
Green Green List (high evidence)	ACE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Renal tubular dysgenesis, 267430 (3) Tags
Green Green List (high evidence)	ACO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Infantile cerebellar-retinal degeneration, 614559 (3) Tags
Green Green List (high evidence)	ACOX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Peroxisomal acyl-CoA oxidase deficiency, 264470 (3) Tags
Green Green List (high evidence)	ACTA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Myopathy, congenital, with fiber-type disproportion 1, 255310 (3) Tags
Green Green List (high evidence)	ACY1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Aminoacylase 1 deficiency, MIM# 609924 Tags
Green Green List (high evidence)	ADA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Severe combined immunodeficiency due to ADA deficiency MIM#102700 Adenosine deaminase deficiency, partial MIM#102700 Tags
Green Green List (high evidence)	ADA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688 Tags
Green Green List (high evidence)	ADAMTS13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Thrombotic thrombocytopenic purpura, hereditary, MIM#274150 Tags
Green Green List (high evidence)	ADAMTS2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ehlers-Danlos syndrome, dermatosparaxis type (MIM# 225410) Tags
Green Green List (high evidence)	ADAMTSL2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Geleophysic dysplasia 1, 231050 (3) Tags
Green Green List (high evidence)	ADAR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Aicardi-Goutieres syndrome 6, 615010 (3) Tags
Green Green List (high evidence)	ADAT3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies, MIM#615286 Tags
Green Green List (high evidence)	ADGRG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Polymicrogyria, bilateral frontoparietal, MIM#606854 Tags
Green Green List (high evidence)	ADGRV1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Usher syndrome, type 2C, MIM# 605472 Tags
Green Green List (high evidence)	ADPRHL2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, MIM#618170 Tags new gene name
Green Green List (high evidence)	ADSL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Adenylosuccinase deficiency, 103050 (3) Tags
Green Green List (high evidence)	AGA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Aspartylglucosaminuria, 208400 (3) Tags
Green Green List (high evidence)	AGBL5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Retinitis pigmentosa 75, 617023 Tags
Green Green List (high evidence)	AGK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Sengers syndrome, MIM#212350 Tags
Green Green List (high evidence)	AGL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glycogen storage disease IIIa, 232400 (3) Tags
Green Green List (high evidence)	AGPS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Rhizomelic chondrodysplasia punctata, type 3, MIM# 600121 Tags
Green Green List (high evidence)	AGRN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3) Tags
Green Green List (high evidence)	AGT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Renal tubular dysgenesis, 267430 (3) Tags
Green Green List (high evidence)	AGTR1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Renal tubular dysgenesis MIM#267430 Tags
Green Green List (high evidence)	AGXT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hyperoxaluria, primary, type 1, 259900 (3) Tags
Green Green List (high evidence)	AHI1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Joubert syndrome 3 MIM#608629 Retinitis pigmentosa Tags
Green Green List (high evidence)	AIFM1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Combined oxidative phosphorylation deficiency 6, MIM#300816 Tags
Green Green List (high evidence)	AIMP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leukodystrophy, hypomyelinating, 3, 260600 (3) Tags
Green Green List (high evidence)	AIPL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leber congenital amaurosis 4, 604393 Cone-rod dystrophy, 604393 Retinitis pigmentosa, juvenile, 604393 Tags
Green Green List (high evidence)	AK2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Reticular dysgenesis MIM# 267500 Tags
Green Green List (high evidence)	AKR1D1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bile acid synthesis defect, congenital, 2, 235555 (3) Tags
Green Green List (high evidence)	ALAD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Porphyria, acute hepatic, 612740 (3) Tags
Green Green List (high evidence)	ALDH18A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cutis laxa, autosomal recessive, type IIIA (MIM#219150) Spastic paraplegia 9B, autosomal recessive (MIM#616586) Tags
Green Green List (high evidence)	ALDH1A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Microphthalmia, isolated 8, 615113 (3) Tags
Green Green List (high evidence)	ALDH3A2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Sjogren-Larsson syndrome (MIM#270200) Tags
Green Green List (high evidence)	ALDH5A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Succinic semialdehyde dehydrogenase deficiency, MIM# 271980 Tags
Green Green List (high evidence)	ALDH7A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epilepsy, early-onset, 4, vitamin B6-dependent MIM #266100 Tags
Green Green List (high evidence)	ALDOB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fructose intolerance, hereditary, MIM# 229600 Tags
Green Green List (high evidence)	ALG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital disorder of glycosylation, type Ik, MIM# 608540 Tags
Green Green List (high evidence)	ALG11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital disorder of glycosylation, type Ip, 613661 (3) Tags
Green Green List (high evidence)	ALG12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital disorder of glycosylation, type Ig MIM# 607143 Tags
Green Green List (high evidence)	ALG3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital disorder of glycosylation, type Id, 601110 (3) Tags
Green Green List (high evidence)	ALG6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital disorder of glycosylation, type Ic (MIM#603147) Tags
Green Green List (high evidence)	ALG8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital disorder of glycosylation, type Ih, 608104 (3) Tags
Green Green List (high evidence)	ALG9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital disorder of glycosylation, type Il, 608776 (3) Tags
Green Green List (high evidence)	ALMS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Alstrom syndrome, MIM# 203800 Tags
Green Green List (high evidence)	ALOX12B	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ichthyosis, congenital, autosomal recessive 2, MIM# 242100 Tags
Green Green List (high evidence)	ALOXE3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ichthyosis, congenital, autosomal recessive 3 (MIM#606545) Tags
Green Green List (high evidence)	ALPL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hypophosphatasia, childhood (MIM#241510) Hypophosphatasia, infantile (MIM#241500) Tags
Green Green List (high evidence)	ALS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes ALS2-related motor neuron disease (MONDO:0100227) Tags
Green Green List (high evidence)	AMPD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pontocerebellar hypoplasia, type 9, 615809 (3) Tags
Green Green List (high evidence)	AMT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glycine encephalopathy, 605899 (3) Tags
Green Green List (high evidence)	ANKS6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Nephronophthisis 16 MIM#615382 Tags
Green Green List (high evidence)	ANTXR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes GAPO syndrome (MIM#230740) Tags
Green Green List (high evidence)	ANTXR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hyaline fibromatosis syndrome, MIM# 228600 MONDO:0009229 Tags
Green Green List (high evidence)	AP1S2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Pettigrew syndrome, MIM# 304340 Tags
Green Green List (high evidence)	AP3B2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Developmental and epileptic encephalopathy 48 MIM#617276 Tags
Green Green List (high evidence)	AP4B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spastic paraplegia 47, autosomal recessive, 614066 (3) Tags
Green Green List (high evidence)	AP4M1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spastic paraplegia 50, autosomal recessive, 612936 (3) Tags
Green Green List (high evidence)	AP4S1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spastic paraplegia 52, autosomal recessive, 614067 (3) Tags
Green Green List (high evidence)	APC2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cortical dysplasia, complex, with other brain malformations 10 MIM#618677 Intellectual developmental disorder, autosomal recessive 74 MIM#617169 Lissencephaly spectrum disorders MONDO:0018838 Tags
Green Green List (high evidence)	APOPT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial complex IV deficiency, MIM#220110 Tags new gene name
Green Green List (high evidence)	APTX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920 Tags
Green Green List (high evidence)	AQP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Diabetes insipidus, nephrogenic, type 2 MIM# 125800 Tags
Green Green List (high evidence)	ARFGEF2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Periventricular heterotopia with microcephaly, MIM#608097 Tags
Green Green List (high evidence)	ARG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Argininemia MIM# 207800 Tags
Green Green List (high evidence)	ARHGEF9	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Developmental and epileptic encephalopathy 8, MIM# 300607 Tags SV/CNV
Green Green List (high evidence)	ARL13B	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Joubert syndrome 8, 612291 (3) Tags
Green Green List (high evidence)	ARL6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bardet-Biedl syndrome 3, MIM# 600151 Tags
Green Green List (high evidence)	ARMC4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ciliary dyskinesia, primary, 23, 615451 (3) Tags new gene name
Green Green List (high evidence)	ARPC1B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia MIM#617718 Tags
Green Green List (high evidence)	ARSA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Metachromatic leukodystrophy, 250100 (3) Tags
Green Green List (high evidence)	ARSB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3) Tags
Green Green List (high evidence)	ARV1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epileptic encephalopathy, early infantile, 38, 617020 (3), Autosomal recessive Tags
Green Green List (high evidence)	ARX	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Developmental and epileptic encephalopathy 1, MIM#30835 Hydranencephaly with abnormal genitalia, MIM#300215 Intellectual developmental disorder, X-linked 29, MIM#300419 Lissencephaly, X-linked 2, MIM#300215 Partington syndrome, MIM#309510 Proud syndrome, MIM#300004 Tags
Green Green List (high evidence)	ASAH1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spinal muscular atrophy with progressive myoclonic epilepsy, MIM#159950 Farber lipogranulomatosis, MIM#228000 Tags
Green Green List (high evidence)	ASCC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spinal muscular atrophy with congenital bone fractures 2, MIM#616867 spinal muscular atrophy with congenital bone fractures 2 MONDO:0014807 Tags
Green Green List (high evidence)	ASL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Argininosuccinic aciduria, 207900 (3) Tags
Green Green List (high evidence)	ASNS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Asparagine synthetase deficiency, MIM#615574 Tags
Green Green List (high evidence)	ASPA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Canavan disease, 271900 (3) Tags
Green Green List (high evidence)	ASPM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Microcephaly 5, primary, autosomal recessive (MIM#608716) Tags
Green Green List (high evidence)	ASS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Citrullinaemia MIM# 215700 Tags
Green Green List (high evidence)	ATAD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hyperekplexia 4, MIM#618011 Tags
Green Green List (high evidence)	ATCAY	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ataxia, cerebellar, Cayman type, 601238 (3) Tags
Green Green List (high evidence)	ATF6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Achromatopsia 7, MIM# 616517 Tags
Green Green List (high evidence)	ATM	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ataxia-telangiectasia, 208900 (3) Tags
Green Green List (high evidence)	ATOH7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Persistent hyperplastic primary vitreous, autosomal recessive, 221900 (3) Tags
Green Green List (high evidence)	ATP13A2	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Kufor-Rakeb syndrome (MIM#606693) Tags
Green Green List (high evidence)	ATP6AP1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Immunodeficiency 47, MIM#300972 Tags
Green Green List (high evidence)	ATP6V0A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cutis laxa, autosomal recessive, type IIA, 219200 (3) Tags
Green Green List (high evidence)	ATP6V0A4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Distal renal tubular acidosis 3, with or without sensorineural hearing loss MIM#602722 Tags
Green Green List (high evidence)	ATP6V1B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300 Tags
Green Green List (high evidence)	ATP7A	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Menkes disease(MIM#309400) Occipital horn syndrome(MIM#304150) Tags
Green Green List (high evidence)	ATP7B	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Wilson disease, 277900 (3) Tags
Green Green List (high evidence)	ATP8A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 (MIM#615268) Tags
Green Green List (high evidence)	ATP8B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cholestasis, progressive familial intrahepatic 1, 211600 (3) Tags
Green Green List (high evidence)	ATR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Seckel syndrome 1(MIM#210600) Tags
Green Green List (high evidence)	ATRX	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes ATR-X-related syndrome MONDO:0016980 Tags
Green Green List (high evidence)	AUH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes 3-methylglutaconic aciduria, type I, MIM# 250950 MONDO:0009610 Tags
Green Green List (high evidence)	B3GALNT2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, 615181 (3) Tags
Green Green List (high evidence)	B3GALT6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Al-Gazali syndrome, MIM# 609465 Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM# 615349 Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM#271640 Tags
Green Green List (high evidence)	B3GAT3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600 (3) Tags
Green Green List (high evidence)	B3GLCT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Peters-plus syndrome, MIM# 261540 Tags
Green Green List (high evidence)	B4GALNT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spastic paraplegia 26, MIM# 609195 Tags
Green Green List (high evidence)	B4GALT7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070 MONDO:0020682 Tags
Green Green List (high evidence)	B9D1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Joubert syndrome 27, MIM# 617120 Meckel syndrome 9, MIM# 614209 Tags
Green Green List (high evidence)	BBS1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bardet-Biedl syndrome 1, MIM# 209900 Tags
Green Green List (high evidence)	BBS10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bardet-Biedl syndrome 10, 615987 (3) Tags
Green Green List (high evidence)	BBS12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bardet-Biedl syndrome 12, 615989 (3) Tags
Green Green List (high evidence)	BBS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bardet-Biedl syndrome 2, MIM# 615981 Tags
Green Green List (high evidence)	BBS4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bardet-Biedl syndrome 4, MIM#615982 Tags
Green Green List (high evidence)	BBS5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bardet-Biedl syndrome 5, MIM#615983 Tags
Green Green List (high evidence)	BBS7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bardet-Biedl syndrome 7, MIM# 615984 MONDO:0014435 Tags
Green Green List (high evidence)	BBS9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bardet-Biedl syndrome 9 MIM#615986 Tags
Green Green List (high evidence)	BCAP31	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Green Phenotypes Deafness, dystonia, and cerebral hypomyelination, MIM# 300475 Tags
Green Green List (high evidence)	BCKDHA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Maple syrup urine disease, type Ia, MIM# 248600 Tags
Green Green List (high evidence)	BCKDHB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Maple syrup urine disease, type Ib 620698 Tags
Green Green List (high evidence)	BCKDK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Branched-chain ketoacid dehydrogenase kinase deficiency, 614923 (3) Tags
Green Green List (high evidence)	BCS1L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes GRACILE syndrome, MIM#603358 Mitochondrial complex III deficiency, nuclear type 1, MIM#124000 Tags
Green Green List (high evidence)	BGN	3 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Meester-Loeys syndrome (MIM#300989) Spondyloepimetaphyseal dysplasia, X-linked (MIM#300106) Tags
Green Green List (high evidence)	BIN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Centronuclear myopathy 2, MIM# 255200 Tags
Green Green List (high evidence)	BLM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bloom Syndrome MIM# 210900 Tags
Green Green List (high evidence)	BMPER	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Diaphanospondylodysostosis, 608022 (3) Tags
Green Green List (high evidence)	BMPR1B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Acromesomelic dysplasia 3, MIM# 609441 Tags
Green Green List (high evidence)	BOLA3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia MIM#614299 Tags
Green Green List (high evidence)	BRAT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Rigidity and multifocal seizure syndrome, lethal neonatal, MIM#614498 Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056 Tags
Green Green List (high evidence)	BRF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cerebellofaciodental syndrome, MIM# 616202 Cerebellar-facial-dental syndrome MONDO:0014529 Tags
Green Green List (high evidence)	BRWD3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, X-linked 93 MIM#300659 Tags
Green Green List (high evidence)	BSCL2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Encephalopathy, progressive, with or without lipodystrophy (MIM#615924) Lipodystrophy, congenital generalized, type 2 (MIM#269700) Tags
Green Green List (high evidence)	BSND	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bartter syndrome, type 4a, 602522 (3) Tags
Green Green List (high evidence)	BTK	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Agammaglobulinemia, X-linked 1 MIM#300755 Bruton-type agammaglobulinemia MONDO:0010421 Isolated growth hormone deficiency, type III, with agammaglobulinemia MIM#307200 MONDO:0010615 Tags
Green Green List (high evidence)	BUB1B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mosaic variegated aneuploidy syndrome 1, MIM# 257300 Tags
Green Green List (high evidence)	C12orf57	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Temtamy syndrome, MIM # 218340 Tags founder
Green Green List (high evidence)	C12orf65	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Combined oxidative phosphorylation deficiency 7, MIM# 613559 Spastic paraplegia 55, autosomal recessive, MIM#615035 Tags new gene name
Green Green List (high evidence)	C19orf12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neurodegeneration with brain iron accumulation 4, 614298 (3) Tags
Green Green List (high evidence)	C1QA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes C1q deficiency, 613652 (3) Tags
Green Green List (high evidence)	C1QB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes C1q deficiency, MIM# 613652 Tags
Green Green List (high evidence)	C1QC	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes C1q deficiency, MIM# 613652 Tags
Green Green List (high evidence)	C21orf2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Retinal dystrophy with macular staphyloma MIM#617547 Spondylometaphyseal dysplasia, axial MIM#602271 Tags
Green Green List (high evidence)	C2CD3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Orofaciodigital syndrome XIV, MIM# 615948 MONDO:0014413 Tags
Green Green List (high evidence)	C3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes C3 deficiency, MIM#613779 Tags
Green Green List (high evidence)	C5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes C5 deficiency, 609536 (3) Tags
Green Green List (high evidence)	C5orf42	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Joubert syndrome 17, MIM# 614615 Orofaciodigital syndrome VI, MIM# 277170 Tags new gene name
Green Green List (high evidence)	C8orf37	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cone-rod dystrophy 16, Retinitis pigmentosa 64 MIM#614500 Tags
Green Green List (high evidence)	CA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730 Tags
Green Green List (high evidence)	CABP4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cone-rod synaptic disorder, congenital nonprogressive, 610427 (3) Tags
Green Green List (high evidence)	CANT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Desbuquois dysplasia 1, MIM# 251450 Epiphyseal dysplasia, multiple, 7, MIM# 617719 Tags
Green Green List (high evidence)	CAPN3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Muscular dystrophy, limb-girdle, type 2A, 253600 (3) Tags
Green Green List (high evidence)	CARD11	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Immunodeficiency 11, 615206 (3) Tags
Green Green List (high evidence)	CARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Combined oxidative phosphorylation deficiency 27, 616672 (3), Autosomal recessive Tags
Green Green List (high evidence)	CASK	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes X-linked syndromic intellectual disability MONDO:0020119 Tags
Green Green List (high evidence)	CASQ2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (3) Tags
Green Green List (high evidence)	CASR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hyperparathyroidism, neonatal MIM#239200 Tags
Green Green List (high evidence)	CAVIN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Lipodystrophy, congenital generalized, type 4, MIM# 613327 MONDO:0013225 Tags
Green Green List (high evidence)	CC2D1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, autosomal recessive 3, MIM# 608443 Tags
Green Green List (high evidence)	CC2D2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes COACH syndrome, MIM#216360 Joubert syndrome 9, MIM#612285 Meckel syndrome 6, MIM#612284 Retinitis pigmentosa 93, MIM# 619845 Tags
Green Green List (high evidence)	CCBE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hennekam lymphangiectasia-lymphedema syndrome 1, 235510 (3) Tags
Green Green List (high evidence)	CCDC103	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ciliary dyskinesia, primary, 17, 614679 (3) Tags
Green Green List (high evidence)	CCDC114	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ciliary dyskinesia, primary, 20, 615067 (3) Tags
Green Green List (high evidence)	CCDC115	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital disorder of glycosylation, type IIo, MIM#616828 Tags
Green Green List (high evidence)	CCDC39	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ciliary dyskinesia, primary, 14, 613807 (3) Tags
Green Green List (high evidence)	CCDC40	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ciliary dyskinesia, primary, 15 MIM#613808 Tags
Green Green List (high evidence)	CCDC8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes 3-M syndrome 3, 614205 (3) Tags
Green Green List (high evidence)	CCDC88C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hydrocephalus, congenital, 1 MIM#236600 Tags
Green Green List (high evidence)	CCNO	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ciliary diskinesia, primary, 29, MIM#615872 Tags
Green Green List (high evidence)	CD27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Lymphoproliferative syndrome 2, MIM# 615122 Tags
Green Green List (high evidence)	CD3D	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Immunodeficiency 19, severe combined MIM# 615617 Tags
Green Green List (high evidence)	CD40	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Immunodeficiency with hyper-IgM, type 3, 606843 (3) Tags
Green Green List (high evidence)	CD40LG	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Immunodeficiency, X-linked, with hyper-IgM, 308230 (3) Tags
Green Green List (high evidence)	CD55	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, 226300 (3), Autosomal recessive Tags
Green Green List (high evidence)	CDC45	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Meier-Gorlin syndrome 7, 617063 Tags
Green Green List (high evidence)	CDH11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Elsahy-Waters syndrome MIM#211380 Tags
Green Green List (high evidence)	CDH23	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Usher syndrome, type 1D (MIM#601067) Tags
Green Green List (high evidence)	CDH3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280 Hypotrichosis, congenital, with juvenile macular dystrophy, MIM# 601553 Tags
Green Green List (high evidence)	CDK10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Al Kaissi syndrome, 617694 (3), Autosomal recessive Tags
Green Green List (high evidence)	CDK5RAP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Microcephaly 3, primary, autosomal recessive, MIM#604804 Tags
Green Green List (high evidence)	CDT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Meier-Gorlin syndrome 4, 613804 (3) Tags
Green Green List (high evidence)	CENPJ	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Microcephaly 6, primary MIM#608393 Seckel syndrome 4 MIM#613676 Tags
Green Green List (high evidence)	CEP120	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Joubert syndrome 31, MIM# 617761 Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300 Tags
Green Green List (high evidence)	CEP152	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Microcephaly 9, primary, autosomal recessive, MIM# 614852 MONDO:0013923 Seckel syndrome 5, MIM# 613823 MONDO:0013443 Tags
Green Green List (high evidence)	CEP290	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Joubert syndrome 5, 610188 (3) Tags
Green Green List (high evidence)	CEP41	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Joubert syndrome 15, MIM# 614464 Tags
Green Green List (high evidence)	CEP78	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cone-rod dystrophy and hearing loss, MIM#617236 Tags
Green Green List (high evidence)	CERS3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ichthyosis, congenital, autosomal recessive 9, MIM# 615023 MONDO:0014010 Tags
Green Green List (high evidence)	CFD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Complement factor D deficiency, MIM# 613912 Tags
Green Green List (high evidence)	CFH	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Complement factor H deficiency, 609814 (3) Tags
Green Green List (high evidence)	CFI	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Complement factor I deficiency, MIM#610984 Tags
Green Green List (high evidence)	CFL2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Nemaline myopathy 7, autosomal recessive, 610687 (3) Tags
Green Green List (high evidence)	CFP	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Properdin deficiency, X-linked, 312060 (3) Tags
Green Green List (high evidence)	CFTR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cystic fibrosis, MIM#219700 MONDO:0009061 Tags
Green Green List (high evidence)	CHAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3) Tags
Green Green List (high evidence)	CHKB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Muscular dystrophy, congenital, megaconial type, MIM#602541 Tags
Green Green List (high evidence)	CHMP1A	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pontocerebellar hypoplasia, type 8 MIM#614961 Tags
Green Green List (high evidence)	CHRNA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Multiple pterygium syndrome, lethal type, MIM#253290 Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930 Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930 Tags
Green Green List (high evidence)	CHRND	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Multiple pterygium syndrome, lethal type MIM#253290 Myasthenic syndrome, congenital, 3B, fast-channel MIM#616322 Tags
Green Green List (high evidence)	CHRNE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Myasthenic syndrome, congenital, 4A, slow-channel MIM#605809 Myasthenic syndrome, congenital, 4B, fast-channel MIM#616324 Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency MIM#608931 Tags
Green Green List (high evidence)	CHRNG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Escobar syndrome (MIM# 265000) Multiple pterygium syndrome, lethal type, (MIM# 253290) Tags
Green Green List (high evidence)	CHST14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ehlers-Danlos syndrome, musculocontractural type 1, MIM#601776 Tags
Green Green List (high evidence)	CHST3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 (3) Tags
Green Green List (high evidence)	CHSY1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Temtamy preaxial brachydactyly syndrome, MIM# 605282 Tags
Green Green List (high evidence)	CIITA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bare lymphocyte syndrome, type II, complementation group A, 209920 (3) Tags
Green Green List (high evidence)	CISD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Wolfram syndrome 2 MIM#604928 MONDO:0011502 Tags
Green Green List (high evidence)	CIT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Microcephaly 17, primary, autosomal recessive, 617090 (3) Tags
Green Green List (high evidence)	CKAP2L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Filippi syndrome, MIM#272440 Tags
Green Green List (high evidence)	CLCF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cold-induced sweating syndrome 2, 610313 (3) Tags
Green Green List (high evidence)	CLCN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leukoencephalopathy with ataxia MIM#615651 leukoencephalopathy with mild cerebellar ataxia and white matter oedema MONDO:0014292 Tags
Green Green List (high evidence)	CLCN4	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 Mackenzie's Mission Phenotypes Raynaud-Claes syndrome, MIM #300114 Tags
Green Green List (high evidence)	CLCN5	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Dent disease, MIM#300009 Tags
Green Green List (high evidence)	CLCN7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Osteopetrosis, autosomal recessive 4, 611490 (3) Tags
Green Green List (high evidence)	CLCNKB	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bartter syndrome, type 3 MIM#607364 Tags
Green Green List (high evidence)	CLDN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626 (3) Tags
Green Green List (high evidence)	CLDN10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes HELIX syndrome, MIM#617671 Tags
Green Green List (high evidence)	CLDN19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hypomagnesaemia 5, renal, with ocular involvement, MIM#248190 Tags
Green Green List (high evidence)	CLMP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital short bowel syndrome , MIM#615237 Tags
Green Green List (high evidence)	CLN5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ceroid lipofuscinosis, neuronal, 5, MIM# 256731 MONDO:0009745 Tags
Green Green List (high evidence)	CLN6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ceroid lipofuscinosis, neuronal 6, 601780 (3) Tags
Green Green List (high evidence)	CLN8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ceroid lipofuscinosis, neuronal, 8, 600143 (3) Tags
Green Green List (high evidence)	CLP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pontocerebellar hypoplasia, type 10, 615803 (3) Tags
Green Green List (high evidence)	CLPB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes 3-methylglutaconic aciduria, type VIIB, autosomal recessive (MIM#616271) Tags
Green Green List (high evidence)	CLPP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Perrault syndrome 3, 614129 (3) Tags
Green Green List (high evidence)	CLRN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Usher syndrome, type 3A (MIM#276902) Tags
Green Green List (high evidence)	CNGB3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Macular degeneration, juvenile, 248200 (3) Tags SV/CNV
Green Green List (high evidence)	CNNM4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Jalili syndrome, 217080 (3) Tags
Green Green List (high evidence)	CNTNAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Lethal congenital contracture syndrome 7, MIM # 616286 Hypomyelinating neuropathy, congenital, 3, MIM # 618186 Tags
Green Green List (high evidence)	CNTNAP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pitt-Hopkins like syndrome 1 MIM#610042 Tags
Green Green List (high evidence)	COG5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIi, MIM# 613612 Tags
Green Green List (high evidence)	COG6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital disorder of glycosylation, type IIl, 614576 (3) Tags
Green Green List (high evidence)	COG7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital disorder of glycosylation, type IIe, MIM # 608779 Tags
Green Green List (high evidence)	COL11A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fibrochondrogenesis 1, 228520 (3) Tags
Green Green List (high evidence)	COL11A2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fibrochondrogenesis 2 MIM#614524 Tags
Green Green List (high evidence)	COL17A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epidermolysis bullosa, junctional 4, intermediate, MIM# 619787 Tags
Green Green List (high evidence)	COL18A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Knobloch syndrome, type 1, 267750 (3) Tags
Green Green List (high evidence)	COL27A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Steel Syndrome, MIM#615155 Tags
Green Green List (high evidence)	COL4A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Alport syndrome 3b, autosomal recessive MIM#620536 MONDO:0957811 Tags
Green Green List (high evidence)	COL4A4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Alport syndrome, autosomal recessive, 203780 (3) Tags
Green Green List (high evidence)	COL4A5	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 Mackenzie's Mission Phenotypes Alport syndrome 1, X-linked, MIM#301050 Tags
Green Green List (high evidence)	COL6A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ullrich congenital muscular dystrophy 1, 254090 (3) Tags
Green Green List (high evidence)	COL6A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bethlem myopathy 1B, MIM# 620725 Ullrich congenital muscular dystrophy 1B, MIM# 620727 Tags
Green Green List (high evidence)	COL6A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ullrich congenital muscular dystrophy 1, MIM#254090 Tags
Green Green List (high evidence)	COL7A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epidermolysis bullosa dystrophica, MIM#226600 Tags
Green Green List (high evidence)	COLEC11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes 3MC syndrome 2, MIM# 265050 MONDO:0009927 Tags
Green Green List (high evidence)	COLQ	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Myasthenic syndrome, congenital, 5 MIM#603034 MONDO:0011281 Tags
Green Green List (high evidence)	COQ2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Coenzyme Q10 deficiency, primary, 1, 607426 (3) Tags
Green Green List (high evidence)	COQ4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Coenzyme Q10 deficiency, primary, 7, 616276 (3) Tags
Green Green List (high evidence)	COQ6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Coenzyme Q10 deficiency, primary, 6, 614650 (3) Tags
Green Green List (high evidence)	COQ8A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Coenzyme Q10 deficiency, primary, 4, 612016 (3) Tags
Green Green List (high evidence)	COQ8B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Nephrotic syndrome, type 9, 615573 (3) Tags
Green Green List (high evidence)	COX10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial complex IV deficiency, nuclear type 3, MIM# 619046 Tags
Green Green List (high evidence)	COX15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial complex IV deficiency, nuclear type 6, MIM #615119 Tags
Green Green List (high evidence)	COX20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial complex IV deficiency, nuclear type 11, MIM#619054 Tags
Green Green List (high evidence)	CPS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Carbamoylphosphate synthetase I deficiency, 237300 (3) Tags
Green Green List (high evidence)	CPT1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes CPT deficiency, hepatic, type IA, 255120 (3) Tags
Green Green List (high evidence)	CPT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes CPT II deficiency, infantile MIM#600649 CPT II deficiency, lethal neonatal MIM#608836 CPT II deficiency, myopathic, stress-induced MIM#255110 Tags
Green Green List (high evidence)	CRB1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leber congenital amaurosis 8, 613835 (3) Tags
Green Green List (high evidence)	CRB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ventriculomegaly with cystic kidney disease, MIM# 219730 MONDO:0009063 Focal segmental glomerulosclerosis 9, MIM# 616220 MONDO:0014539 Tags
Green Green List (high evidence)	CRLF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cold-induced sweating syndrome 1, 272430 (3) Tags
Green Green List (high evidence)	CRTAP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Osteogenesis imperfecta, type VII, 610682 (3) Tags
Green Green List (high evidence)	CSMD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes complex neurodevelopmental disorder MONDO:0100038 Tags
Green Green List (high evidence)	CSPP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Joubert syndrome 21 MIM#615636 MONDO:0014288 Tags
Green Green List (high evidence)	CTC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cerebroretinal microangiopathy with calcifications and cysts, 612199 (3) Tags
Green Green List (high evidence)	CTNS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cystinosis, nephropathic MIM#219800 Cystinosis, late-onset juvenile or adolescent nephropathic MIM#219900 Cystinosis, atypical nephropathic MIM#219800 Tags SV/CNV
Green Green List (high evidence)	CTPS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Immunodeficiency 24, 615897 (3) Tags founder
Green Green List (high evidence)	CTSA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Galactosialidosis MIM#256540 Tags
Green Green List (high evidence)	CTSC	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Haim-Munk syndrome MIM#245010 Papillon-Lefevre syndrome MIM#245000 Tags
Green Green List (high evidence)	CTSD	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ceroid lipofuscinosis, neuronal, 10, 610127 (3) Tags
Green Green List (high evidence)	CTSK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pycnodysostosis, 265800 (3) Tags
Green Green List (high evidence)	CUL4B	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, X-linked syndromic, Cabezas type, MIM#300354 Tags
Green Green List (high evidence)	CUL7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes 3-M syndrome 1, MIM#273750 Tags
Green Green List (high evidence)	CWC27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Retinitis pigmentosa with or without skeletal anomalies, MIM# 250410 Tags
Green Green List (high evidence)	CYB5R3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Methemoglobinaemia, type II (MIM# 250800) Tags
Green Green List (high evidence)	CYBA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Chronic granulomatous disease 4 MIM#233690 Tags
Green Green List (high evidence)	CYBB	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Chronic granulomatous disease, X-linked, 306400 (3) Tags
Green Green List (high evidence)	CYP11A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 (3) Tags
Green Green List (high evidence)	CYP11B2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hypoaldosteronism, congenital, due to CMO I deficiency, MIM#203400 Tags
Green Green List (high evidence)	CYP17A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes 17-alpha-hydroxylase/17,20-lyase deficiency MIM#202110 Tags
Green Green List (high evidence)	CYP1B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, MIM#231300 Anterior segment dysgenesis 6, multiple subtypes, MIM#617315 Tags
Green Green List (high evidence)	CYP27A1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cerebrotendinous xanthomatosis, 213700 (3) Tags
Green Green List (high evidence)	CYP2U1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spastic paraplegia 56, autosomal recessive MIM#615030 Tags
Green Green List (high evidence)	CYP4F22	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ichthyosis, congenital, autosomal recessive 5, MIM#604777 Tags
Green Green List (high evidence)	CYP7B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bile acid synthesis defect, congenital, 3, 613812 (3) Spastic paraplegia 5A, 270800 (3) Tags
Green Green List (high evidence)	D2HGDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes D-2-hydroxyglutaric aciduria, MIM#600721 Tags
Green Green List (high evidence)	DARS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 (3) Tags
Green Green List (high evidence)	DARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 (3) Tags
Green Green List (high evidence)	DBR1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Xerosis and growth failure with immune and pulmonary dysfunction syndrome MIM#620510 Tags
Green Green List (high evidence)	DBT	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Maple syrup urine disease, type II, 248600 (3) Tags
Green Green List (high evidence)	DCAF17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Woodhouse-Sakati syndrome MIM#241080 Tags
Green Green List (high evidence)	DCDC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Nephronophthisis 19, MIM #616217 Sclerosing cholangitis, neonatal, MIM #617394 Tags
Green Green List (high evidence)	DCHS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Van Maldergem syndrome 1, 601390 (3) Tags
Green Green List (high evidence)	DCLRE1C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Severe combined immunodeficiency, Athabascan type, MIM# 602450 Omenn syndrome, MIM# 603554 Tags
Green Green List (high evidence)	DCX	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Lissencephaly, X-linked MIM#300067 Subcortical laminal heterotopia, X-linked MIM#300067 Tags
Green Green List (high evidence)	DDC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Aromatic L-amino acid decarboxylase deficiency 608643 Aromatic L-amino acid decarboxylase deficiency (MIM#608643) Tags
Green Green List (high evidence)	DDHD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spastic paraplegia 54, autosomal recessive, MIM#615033 Tags
Green Green List (high evidence)	DDR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spondylometaepiphyseal dysplasia, short limb-hand type, 271665 (3) Tags
Green Green List (high evidence)	DDX11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Warsaw breakage syndrome, MIM#613398 Tags
Green Green List (high evidence)	DDX59	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Orofaciodigital syndrome V, 174300 (3) Tags
Green Green List (high evidence)	DENND5A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epileptic encephalopathy, early infantile, 49, MIM# 617281 Tags
Green Green List (high evidence)	DGAT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Diarrhoea 7, protein-losing enteropathy type, MIM# 615863 congenital diarrhoea 7 with exudative enteropathy MONDO:0014375 Tags
Green Green List (high evidence)	DGKE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Nephrotic syndrome, type 7, MIM# 615008 Tags
Green Green List (high evidence)	DGUOK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM#251880 Tags
Green Green List (high evidence)	DHCR24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Desmosterolosis, 602398 (3) Tags
Green Green List (high evidence)	DHCR7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Smith-Lemli-Opitz syndrome, 270400 (3) Tags
Green Green List (high evidence)	DHDDS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Retinitis pigmentosa 59, MIM#613861 Congenital disorder of glycosylation, type 1bb, MIM# 613861 Tags
Green Green List (high evidence)	DHODH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Miller syndrome, 263750 (3) Tags
Green Green List (high evidence)	DIS3L2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Perlman syndrome MIM# 267000 Tags
Green Green List (high evidence)	DKC1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Dyskeratosis congenita, X-linked MIM#305000 Tags
Green Green List (high evidence)	DLAT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Leigh syndrome MONDO:0009723 Pyruvate dehydrogenase E2 deficiency MIM#245348 Tags
Green Green List (high evidence)	DLD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Dihydrolipoamide dehydrogenase deficiency, 246900 (3) Tags
Green Green List (high evidence)	DLG3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, X-linked 90 MIM#300850 Tags
Green Green List (high evidence)	DLL3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300 MONDO:0020692 Tags
Green Green List (high evidence)	DMD	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Becker muscular dystrophy MIM#300376 Duchenne muscular dystrophy MIM#310200 Tags SV/CNV
Green Green List (high evidence)	DNAAF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ciliary dyskinesia, primary, 13, MIM# 613193 Tags
Green Green List (high evidence)	DNAAF3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ciliary dyskinesia, primary, 2, MIM#606763 Tags
Green Green List (high evidence)	DNAAF4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ciliary dyskinesia, primary, 25, 615482 (3) Tags cnv
Green Green List (high evidence)	DNAAF5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ciliary dyskinesia, primary, 18, 614874 (3) Tags
Green Green List (high evidence)	DNAH11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884 Tags
Green Green List (high evidence)	DNAH5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3) Tags
Green Green List (high evidence)	DNAI1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM#244400 Tags
Green Green List (high evidence)	DNAI2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ciliary dyskinesia, primary, 9, with or without situs inversus, MIM#612444 Tags
Green Green List (high evidence)	DNAJC12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384 Tags
Green Green List (high evidence)	DNAJC19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes 3-methylglutaconic aciduria, type V, 610198 (3) Tags
Green Green List (high evidence)	DNAJC21	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bone marrow failure syndrome 3, 617052 (3), Autosomal recessive Tags
Green Green List (high evidence)	DNAJC6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Parkinson disease 19, juvenile-onset, 615528 (3) Tags
Green Green List (high evidence)	DNMT3B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (3) Tags
Green Green List (high evidence)	DOCK2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Immunodeficiency 40, 616433 (3) Tags
Green Green List (high evidence)	DOCK6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Adams-Oliver syndrome 2, 614219 (3) Tags
Green Green List (high evidence)	DOCK8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hyper-IgE recurrent infection syndrome, autosomal recessive, MIM#243700 Tags
Green Green List (high evidence)	DOK7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Myasthenic syndrome, congenital, 10, MIM# 254300 Fetal akinesia deformation sequence 3, MIM# 618389 Tags
Green Green List (high evidence)	DOLK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital disorder of glycosylation, type Im, MIM# 610768 Tags
Green Green List (high evidence)	DONSON	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Microcephaly-micromelia syndrome (MIM#251230) Microcephaly, short stature, and limb abnormalities (MIM#617604) Tags
Green Green List (high evidence)	DPAGT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital disorder of glycosylation, type Ij, MIM# 608093 DPAGT1-CDG MONDO:0011964 Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM 614750 Tags
Green Green List (high evidence)	DPH1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Developmental delay with short stature, dysmorphic features, and sparse hair, 616901 (3), Autosomal recessive Tags
Green Green List (high evidence)	DSP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cardiomyopathy, dilated, with woolly hair and keratoderma (MIM#605676) Epidermolysis bullosa, lethal acantholytic (MIM#609638) Tags
Green Green List (high evidence)	DYM	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Dyggve-Melchior-Clausen disease MIM#223800 Smith-McCort dysplasia MIM#607326 Tags
Green Green List (high evidence)	DYNC1I2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Neurodevelopmental disorder with microcephaly and structural brain anomalies , MIM#618492 Tags
Green Green List (high evidence)	DYNC2H1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3) Tags
Green Green List (high evidence)	DYNC2LI1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Short-rib thoracic dysplasia 15 with polydactyly, 617088 (3), Autosomal recessive Tags
Green Green List (high evidence)	DYSF	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Miyoshi muscular dystrophy 1 MIM#254130 MONDO:0024545 Muscular dystrophy, limb-girdle, autosomal recessive 2 MIM#253601 MONDO:0009676 Myopathy, distal, with anterior tibial onset MIM#606768 MONDO:0011721 Tags
Green Green List (high evidence)	EARS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Combined oxidative phosphorylation deficiency 12 MIM#614924 Tags
Green Green List (high evidence)	ECEL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Arthrogryposis, distal, type 5D, 615065 (3) Tags
Green Green List (high evidence)	ECHS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 (3) Tags
Green Green List (high evidence)	EDA	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100 Tags
Green Green List (high evidence)	EDAR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619 Tags
Green Green List (high evidence)	EFEMP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cutis laxa, autosomal recessive, type IB, 614437 (3) Tags
Green Green List (high evidence)	EFNB1	3 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Craniofrontonasal dysplasia (MIM#304110) Tags
Green Green List (high evidence)	EIF2AK3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Wolcott-Rallison syndrome MIM#226980 Tags
Green Green List (high evidence)	EIF2AK4	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pulmonary venoocclusive disease 2, 234810 (3) Tags
Green Green List (high evidence)	EIF2B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leukoencephalopathy with vanishing white matter 1, with or without ovarian failure MIM#603896 Tags
Green Green List (high evidence)	EIF2B2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leukoencephalopathy with vanishing white matter 2, with or without ovarian failure, MIM #620312 Tags
Green Green List (high evidence)	EIF2B3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leukoencephalopathy with vanishing white matter 3, with or without ovarian failure MIM#620313 Tags
Green Green List (high evidence)	EIF2B4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leukoencephaly with vanishing white matter, 603896 (3) Tags
Green Green List (high evidence)	EIF2B5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leukoencephalopathy with vanishing white matter, 603896 (3) Tags
Green Green List (high evidence)	EIF2S3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes MEHMO syndrome, MIM# 300148 Tags
Green Green List (high evidence)	ELAC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Combined oxidative phosphorylation deficiency 17, MIM#615440 Tags
Green Green List (high evidence)	ELP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Dysautonomia, familial MIM#223900 Hereditary sensory and autonomic neuropathy type III (HSAN3) Tags
Green Green List (high evidence)	ELP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, autosomal recessive 58, MIM# 617270 Tags
Green Green List (high evidence)	EMD	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Emery-Dreifuss muscular dystrophy 1, X-linked, MIM# 310300 Tags
Green Green List (high evidence)	EML1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Band heterotopia, 600348 (3), Autosomal recessive Tags
Green Green List (high evidence)	ENPP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Arterial calcification, generalized, of infancy, 1 MIM#208000 Hypophosphatemic rickets, autosomal recessive, 2 MIM#613312 Tags
Green Green List (high evidence)	EOGT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Adams-Oliver syndrome 4, MIM#615297 Tags
Green Green List (high evidence)	EPCAM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Diarrhea 5, with tufting enteropathy, congenital, 613217 (3) Tags
Green Green List (high evidence)	EPG5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Vici syndrome MIM# 242840 Tags
Green Green List (high evidence)	EPM2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epilepsy, progressive myoclonic 2A (Lafora), 254780 (3) Tags
Green Green List (high evidence)	ERBB3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Visceral neuropathy, familial, 1, autosomal recessive MIM#243180 Lethal congenital contractural syndrome 2 MIM#607598 Tags
Green Green List (high evidence)	ERCC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cerebrooculofacioskeletal syndrome 2, MIM# 610756 Trichothiodystrophy 1, photosensitive, MIM# 601675 Xeroderma pigmentosum, group D, MIM# 278730 Tags
Green Green List (high evidence)	ERCC4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fanconi anemia, complementation group Q, MIM# 615272 MONDO:0014108 Xeroderma pigmentosum, group F, MIM# 278760 MONDO:0010215 XFE progeroid syndrome, MIM# 610965 MONDO:0012590 Tags
Green Green List (high evidence)	ERCC5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cerebrooculofacioskeletal syndrome 3, MIM# 616570 MONDO:0014696 Xeroderma pigmentosum, group G, MIM# 278780 MONDO:0010216 Tags
Green Green List (high evidence)	ERCC6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cockayne spectrum with or without cerebrooculofacioskeletal syndrome MONDO:0100506 Tags
Green Green List (high evidence)	ERCC6L2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bone marrow failure syndrome 2, 615715 (3) Tags
Green Green List (high evidence)	ERCC8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cockayne syndrome, type A, MIM#216400 Tags
Green Green List (high evidence)	ESCO2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Juberg-Hayward syndrome (MIM#216100) Roberts-SC phocomelia syndrome (MIM#268300) Tags
Green Green List (high evidence)	ETFA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glutaric acidemia IIA, 231680 (3) Tags
Green Green List (high evidence)	ETFB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glutaric acidaemia IIB, MIM# 231680 Tags
Green Green List (high evidence)	ETFDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glutaric acidemia IIC, 231680 (3) Tags
Green Green List (high evidence)	ETHE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ethylmalonic encephalopathy, 602473 (3) Tags
Green Green List (high evidence)	EVC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ellis-van Creveld syndrome, 225500 (3) Tags
Green Green List (high evidence)	EVC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ellis-van Creveld syndrome, 225500 (3) Tags
Green Green List (high evidence)	EXOSC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pontocerebellar hypoplasia, type 1B, MIM# 614678 Tags
Green Green List (high evidence)	EXOSC8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pontocerebellar hypoplasia, type 1C, 616081 (3) Tags
Green Green List (high evidence)	EXTL3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM#617425 Tags
Green Green List (high evidence)	F2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Dysprothrombinaemia, 613679 Hypoprothrombinaemia (MIM#613679) Tags
Green Green List (high evidence)	F7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Factor VII deficiency, 227500 (3) Tags
Green Green List (high evidence)	FA2H	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spastic paraplegia 35, autosomal recessive, 612319 (3) Tags
Green Green List (high evidence)	FAH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Tyrosinemia, type I, 276700 (3) Tags
Green Green List (high evidence)	FAM126A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leukodystrophy, hypomyelinating, 5, 610532 (3) Tags
Green Green List (high evidence)	FAM20C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Raine syndrome MIM#259775 Tags
Green Green List (high evidence)	FANCA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fanconi anemia, complementation group A, 227650 (3) Tags
Green Green List (high evidence)	FANCB	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Fanconi anemia, complementation group B, 300514 (3) Tags
Green Green List (high evidence)	FANCC	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fanconi anemia, complementation group C, 227645 (3) Tags
Green Green List (high evidence)	FANCD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fanconi anaemia, complementation group D2 MIM#227646 Tags
Green Green List (high evidence)	FANCE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fanconi anaemia, complementation group E, MIM#600901 Tags
Green Green List (high evidence)	FANCF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fanconi anaemia, complementation group F, MIM#603467 Tags
Green Green List (high evidence)	FANCG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fanconi anemia, complementation group G, 614082 (3) Tags
Green Green List (high evidence)	FANCI	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fanconi anemia, complementation group I, 609053 (3) Tags
Green Green List (high evidence)	FANCL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fanconi anaemia, complementation group L MIM#614083 Tags
Green Green List (high evidence)	FARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Combined oxidative phosphorylation deficiency 14 (MIM#614946) Spastic paraplegia 77 (MIM#617046) Tags
Green Green List (high evidence)	FAT4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hennekam lymphangiectasia-lymphedema syndrome 2 MIM#616006 Van Maldergem syndrome 2 MIM#615546 Tags
Green Green List (high evidence)	FBLN5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cutis laxa, autosomal recessive, type IA, 219100 (3) Tags
Green Green List (high evidence)	FBP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fructose-1,6-bisphosphatase deficiency, 229700 (3) Tags
Green Green List (high evidence)	FBXL4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471 Tags
Green Green List (high evidence)	FBXO7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Parkinson disease 15, autosomal recessive, MIM#260300 Tags
Green Green List (high evidence)	FERMT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Kindler syndrome, MIM#173650 Tags
Green Green List (high evidence)	FERMT3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leukocyte adhesion deficiency, type III, 612840 (3) Tags
Green Green List (high evidence)	FGA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Afibrinogenemia, congenital, 202400 (3) Tags
Green Green List (high evidence)	FGB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Afibrinogenemia, congenital, 202400 (3) Tags
Green Green List (high evidence)	FGD4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Charcot-Marie-Tooth disease, type 4H MIM#609311 Charcot-Marie-Tooth disease MONDO:0015626 Tags
Green Green List (high evidence)	FGG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Afibrinogenemia, congenital, 202400 (3) Tags
Green Green List (high evidence)	FH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fumarase deficiency, MIM# 606812 Tags
Green Green List (high evidence)	FHL1	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 Mackenzie's Mission Phenotypes Reducing body myopathy MONDO:0019948 X-linked Emery-Dreifuss muscular dystrophy MONDO:0010680 Tags
Green Green List (high evidence)	FIG4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Yunis-Varon syndrome, MIM#216340 Tags
Green Green List (high evidence)	FITM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Siddiqi syndrome MIM#618635 Tags
Green Green List (high evidence)	FKBP10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bruck syndrome MIM#259450 osteogenesis imperfecta, type XI, MIM#610968 Tags
Green Green List (high evidence)	FKBP14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ehlers-Danlos syndrome, kyphoscoliotic type, 2 MIM#614557 Tags
Green Green List (high evidence)	FKRP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Myopathy caused by variation in FKRP MONDO:0700066 Tags
Green Green List (high evidence)	FKTN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cardiomyopathy, dilated, 1X MIM#611615 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4MIM#253800 Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 4 MIM#613152 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 MIM# 611588 Tags
Green Green List (high evidence)	FLAD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MIM#255100 Tags
Green Green List (high evidence)	FLNA	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes FG syndrome 2, MIM#300321 Frontometaphyseal dysplasia 1, MIM#305620 Heterotopia, periventricular, 1, MIM#300049 Intestinal pseudoobstruction, neuronal, MIM#300048 Melnick-Needles syndrome, MIM#309350 Otopalatodigital syndrome, type I, MIM#311300 Otopalatodigital syndrome, type II, MIM#304120 Terminal osseous dysplasia, MIM#300244 Tags
Green Green List (high evidence)	FLNB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spondylocarpotarsal synostosis syndrome, 272460 (3) Tags
Green Green List (high evidence)	FLVCR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ataxia, posterior column, with retinitis pigmentosa, 609033, Neurodevelopmental disorder MONDO:0700092, FLVCR1-related Tags
Green Green List (high evidence)	FLVCR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, 225790 (3) Tags
Green Green List (high evidence)	FMR1	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Fragile X syndrome, MIM #300624 Tags
Green Green List (high evidence)	FOLR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neurodegeneration due to cerebral folate transport deficiency, MIM#613068 Tags
Green Green List (high evidence)	FOXE3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256 Tags
Green Green List (high evidence)	FOXN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes T-cell immunodeficiency, congenital alopecia, and nail dystrophy MIM#601705 Tags
Green Green List (high evidence)	FOXP3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (3) Tags
Green Green List (high evidence)	FOXRED1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial complex I deficiency, nuclear type 19, MIM# 618241 Tags
Green Green List (high evidence)	FRAS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fraser syndrome 1 MIM#219000 Tags
Green Green List (high evidence)	FREM1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Manitoba oculotrichoanal syndrome MIM# 248450 Bifid nose with or without anorectal and renal anomalies, MIM# 608980 Tags
Green Green List (high evidence)	FREM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fraser syndrome, 219000 (3) Tags
Green Green List (high evidence)	FRRS1L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epileptic encephalopathy, early infantile, 37, MIM#616981 Tags
Green Green List (high evidence)	FTO	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Growth retardation, developmental delay, facial dysmorphism MIM#612938 Tags
Green Green List (high evidence)	FTSJ1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, X-linked 9 MIM#309549 Tags
Green Green List (high evidence)	FUCA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fucosidosis, MIM# 230000 Tags
Green Green List (high evidence)	FYCO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cataract 18, MIM#610019 Tags
Green Green List (high evidence)	G6PC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glycogen storage disease Ia, 232200 (3) Tags
Green Green List (high evidence)	G6PC3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Dursun syndrome, MIM# 612541 Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541 Tags
Green Green List (high evidence)	GAA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glycogen storage disease II (Pompe disease), 232300 Tags
Green Green List (high evidence)	GALC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Krabbe disease, MIM# 245200 MONDO:0009499 Tags
Green Green List (high evidence)	GALNS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mucopolysaccharidosis IVA, 253000 (3) Tags
Green Green List (high evidence)	GALT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Galactosemia MIM# 230400 Tags
Green Green List (high evidence)	GAMT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cerebral creatine deficiency syndrome 2, 612736 (3) Tags
Green Green List (high evidence)	GAN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Giant axonal neuropathy-1, 256850 (3) Tags
Green Green List (high evidence)	GAS8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ciliary dyskinesia, primary, 33 MIM#616726 Tags
Green Green List (high evidence)	GATM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cerebral creatine deficiency syndrome 3, 612718 (3) Tags
Green Green List (high evidence)	GBA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spastic paraplegia 46, autosomal recessive, MIM# 614409 Tags
Green Green List (high evidence)	GBE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glycogen storage disease IV, MIM#232500 Tags
Green Green List (high evidence)	GCDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glutaric aciduria, type I, MIM#231670 Tags
Green Green List (high evidence)	GCH1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes GTP cyclohydrolase I deficiency MONDO:0100184 Tags
Green Green List (high evidence)	GDAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Charcot-Marie-Tooth disease, axonal, type 2K, MIM #607831 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)	GDF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital heart defects, multiple types, 6 MIM#613854 Right atrial isomerism (Ivemark), MIM #208530 Tags
Green Green List (high evidence)	GDF5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Chondrodysplasia, Grebe type, 200700 (3) Tags
Green Green List (high evidence)	GDI1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, X-linked 41, MIM #300849 Tags
Green Green List (high evidence)	GFM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Combined oxidative phosphorylation deficiency 1, 609060 (3) Tags
Green Green List (high evidence)	GFPT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Myasthenia, congenital, 12, with tubular aggregates, MIM#610542 Tags
Green Green List (high evidence)	GHR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Laron dwarfism, MIM#262500 Tags
Green Green List (high evidence)	GJA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Craniometaphyseal dysplasia, autosomal recessive MIM#218400 Oculodentodigital dysplasia, autosomal recessive MIM#257850 Tags
Green Green List (high evidence)	GJB1	3 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 (MIM#302800) Tags
Green Green List (high evidence)	GJC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leukodystrophy, hypomyelinating, 2, 608804 (3) Tags
Green Green List (high evidence)	GLA	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Fabry disease, MIM#301500 Tags
Green Green List (high evidence)	GLB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission 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	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glycine encephalopathy, 605899 (3) Tags
Green Green List (high evidence)	GLDN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Lethal congenital contracture syndrome 11 MIM#617194 Tags
Green Green List (high evidence)	GLE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital arthrogryposis with anterior horn cell disease, MIM #611890 Lethal congenital contracture syndrome 1, MIM #253310 Tags
Green Green List (high evidence)	GLIS3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Diabetes mellitus, neonatal, with congenital hypothyroidism MIM#610199 Tags
Green Green List (high evidence)	GLYCTK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes D-glyceric aciduria, MIM#220120 Tags
Green Green List (high evidence)	GM2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes GM2-gangliosidosis, AB variant MIM #272750 Tags
Green Green List (high evidence)	GMPPA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Alacrima, achalasia, and impaired intellectual development syndrome (MIM#615510) Tags
Green Green List (high evidence)	GMPPB	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 615351 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352 Tags
Green Green List (high evidence)	GNAT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Achromatopsia 4 MIM#613856 Tags
Green Green List (high evidence)	GNB5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia (MIM#617173) Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia (MIM#617182) Tags
Green Green List (high evidence)	GNPAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Rhizomelic chondrodysplasia punctata, type 2 (MIM# 22276)5) Tags
Green Green List (high evidence)	GNPTAB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mucolipidosis III alpha/beta MIM#252600 Mucolipidosis II alpha/beta MIM#252500 Tags
Green Green List (high evidence)	GNPTG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mucolipidosis III gamma, MIM# 252605 Tags
Green Green List (high evidence)	GNS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mucopolysaccharidosis type IIID, 252940 (3) Tags
Green Green List (high evidence)	GORAB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Geroderma osteodysplasticum, MIM#231070 MONDO:0009271 Tags
Green Green List (high evidence)	GOSR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epilepsy, progressive myoclonic 6 MIM#614018 Muscular dystrophy, congenital, with or without seizures MIM#620166 Tags
Green Green List (high evidence)	GPAA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glycosylphosphatidylinositol biosynthesis defect 15, MIM#617810 Tags
Green Green List (high evidence)	GPC3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Simpson-Golabi-Behmel syndrome, type 1, 312870 (3) Tags
Green Green List (high evidence)	GPC6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Omodysplasia 1, 258315 (3) Tags
Green Green List (high evidence)	GPHN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Molybdenum cofactor deficiency C, 615501 (3) Tags
Green Green List (high evidence)	GPR143	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Nystagmus 6, congenital, X-linked, MIM#300814 Ocular albinism, type I, Nettleship-Falls type, MIM#300500 Tags for review
Green Green List (high evidence)	GPR179	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes GPR179-related retinopathy (MONDO:0800396) Tags
Green Green List (high evidence)	GPSM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Chudley-McCullough syndrome, MIM#604213 Tags
Green Green List (high evidence)	GPT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neurodevelopmental disorder with microcephaly and spastic paraplegia, MIM# 616281 Tags
Green Green List (high evidence)	GRM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spinocerebellar ataxia, autosomal recessive 13, 614831 (3) Tags
Green Green List (high evidence)	GSS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glutathione synthetase deficiency, 266130 (3) Tags
Green Green List (high evidence)	GTF2H5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Trichothiodystrophy 3, photosensitive, MIM# 616395 Tags
Green Green List (high evidence)	GTPBP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Jaberi-Elahi syndrome, MIM#617988 Tags
Green Green List (high evidence)	GTPBP3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Combined oxidative phosphorylation deficiency 23 MIM#616198 Tags
Green Green List (high evidence)	GUCY1A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Moyamoya 6 with achalasia, 615750 (3) Tags
Green Green List (high evidence)	GUCY2C	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Meconium ileus, 614665 (3) Tags
Green Green List (high evidence)	GUCY2D	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leber congenital amaurosis 1, MIM#204000 Tags
Green Green List (high evidence)	GUSB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mucopolysaccharidosis VII, MIM# 253220 Tags
Green Green List (high evidence)	HACE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spastic paraplegia and psychomotor retardation with or without seizures, MIM#616756 Tags
Green Green List (high evidence)	HADH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes 3-hydroxyacyl-CoA dehydrogenase deficiency MIM#231530 Tags
Green Green List (high evidence)	HADHA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes LCHAD deficiency MIM#609016 Mitochondrial trifunctional protein deficiency 1 MIM#609015 Tags
Green Green List (high evidence)	HADHB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial trifunctional protein deficiency 2 MIM#620300 Tags
Green Green List (high evidence)	HAMP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Haemochromatosis, type 2B MIM#613313 Tags
Green Green List (high evidence)	HAX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neutropenia, severe congenital 3, autosomal recessive, MIM#610738 Tags
Green Green List (high evidence)	HBB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Thalassemias, beta-, 613985 Sickle cell anaemia, MIM# 603903 Tags
Green Green List (high evidence)	HCFC1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Methylmalonic aciduria and homocysteinemia, cblX type, MIM#309541 Tags
Green Green List (high evidence)	HEPACAM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Megalencephalic leukoencephalopathy with subcortical cysts 2A, MIM#613925 (3) Tags
Green Green List (high evidence)	HERC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, autosomal recessive 38 (MIM#615516) Tags
Green Green List (high evidence)	HES7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spondylocostal dysostosis 4, autosomal recessive MIM#60859 Tags
Green Green List (high evidence)	HESX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Septooptic dysplasia, MIM#182230 Pituitary hormone deficiency, combined, 5 MIM#182230 Growth hormone deficiency with pituitary anomalies, MIM#182230 Tags
Green Green List (high evidence)	HEXA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Tay-Sachs disease, 272800 (3) Tags
Green Green List (high evidence)	HEXB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, MIM#268800 Tags
Green Green List (high evidence)	HFE2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Haemochromatosis, type 2A, 602390 (3) Tags
Green Green List (high evidence)	HGSNAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM#252930 Tags
Green Green List (high evidence)	HIBCH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM#250620 Tags
Green Green List (high evidence)	HINT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neuromyotonia and axonal neuropathy, autosomal recessive, MIM#137200 Tags
Green Green List (high evidence)	HK1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hemolytic anemia due to hexokinase deficiency MIM#235700 Neuropathy, hereditary motor and sensory, Russe type, MIM#605285 Tags
Green Green List (high evidence)	HLCS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Holocarboxylase synthetase deficiency, 253270 (3) Tags
Green Green List (high evidence)	HMGCL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes HMG-CoA lyase deficiency, MIM# 246450 Tags
Green Green List (high evidence)	HMGCS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes HMG-CoA synthase-2 deficiency, 605911 (3) Tags
Green Green List (high evidence)	HOXA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Athabaskan brainstem dysgenesis syndrome, MIM#601536 Bosley-Salih-Alorainy syndrome, MIM#601536 Tags
Green Green List (high evidence)	HPD	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Tyrosinemia, type III, MIM#276710 Tags
Green Green List (high evidence)	HPDL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities MIM#619026 Spastic paraplegia 83, autosomal recessive MIM#619027 Leigh syndrome MONDO:0009723 Tags
Green Green List (high evidence)	HPGD	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cranioosteoarthropathy, 259100 (3) Tags
Green Green List (high evidence)	HPRT1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Lesch-Nyhan syndrome, MIM#300322 Tags
Green Green List (high evidence)	HPS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hermansky-Pudlak syndrome 1, MIM#203300 Tags
Green Green List (high evidence)	HPS3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hermansky-Pudlak syndrome 3 MIM#614072 Tags
Green Green List (high evidence)	HPS4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hermansky-Pudlak syndrome 4, MIM #614073 Tags
Green Green List (high evidence)	HPS5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hermansky-Pudlak syndrome 5, 614074 (3) Tags
Green Green List (high evidence)	HPS6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hermansky-Pudlak syndrome 6, MIM# 614075 Tags
Green Green List (high evidence)	HPSE2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Urofacial syndrome 1 MIM#236730 Tags
Green Green List (high evidence)	HSD17B10	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes HSD10 mitochondrial disease, MIM#300438 Tags
Green Green List (high evidence)	HSD17B4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes D-bifunctional protein deficiency, 261515 (3) Tags
Green Green List (high evidence)	HSD3B2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM#201810 Tags
Green Green List (high evidence)	HSD3B7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bile acid synthesis defect, congenital, 1 MIM#607765 Tags
Green Green List (high evidence)	HSPD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leukodystrophy, hypomyelinating, 4 MIM#612233 Tags
Green Green List (high evidence)	HSPG2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Schwartz-Jampel syndrome, type 1, MIM# 255800 Dyssegmental dysplasia, Silverman-Handmaker type, MIM# 224410 Tags
Green Green List (high evidence)	HTRA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes 3-methylglutaconic aciduria, type VIII, 617248 (3), Autosomal recessive Tags
Green Green List (high evidence)	HUWE1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, X-linked syndromic, Turner type, MIM#309590 Tags
Green Green List (high evidence)	HYDIN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ciliary dyskinesia, primary, 5, 608647 (3) Tags
Green Green List (high evidence)	HYLS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hydrolethalus syndrome (MIM#236680) Tags
Green Green List (high evidence)	IARS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093 Tags
Green Green List (high evidence)	IARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, MIM#616007 Tags
Green Green List (high evidence)	IBA57	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Multiple mitochondrial dysfunctions syndrome 3 MIM#615330 Tags
Green Green List (high evidence)	ICOS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Immunodeficiency, common variable, 1, 607594 (3) Tags SV/CNV
Green Green List (high evidence)	IDS	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Mucopolysaccharidosis II, MIM# 309900 Hunter syndrome, MONDO:0010674 Tags
Green Green List (high evidence)	IDUA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mucopolysaccharidosis Ih/s (Hurler syndrome) 607014 Tags
Green Green List (high evidence)	IER3IP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231 Tags
Green Green List (high evidence)	IFNGR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Immunodeficiency 27A, mycobacteriosis, MIM#209950 Tags
Green Green List (high evidence)	IFNGR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Immunodeficiency 28, mycobacteriosis, MIM#614889 Tags
Green Green List (high evidence)	IFT122	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cranioectodermal dysplasia 1, 218330 (3) Tags
Green Green List (high evidence)	IFT140	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Short-rib thoracic dysplasia 9 with of without polydactyly (MIM#266920) Tags
Green Green List (high evidence)	IFT172	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bardet-Biedl syndrome 20 MIM#619471 Retinitis pigmentosa 71 MIM#616394 Short-rib thoracic dysplasia 10 with or without polydactyly MIM#615630 Tags
Green Green List (high evidence)	IFT80	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Short-rib thoracic dysplasia 2 with or without polydactyly, MIM# 611263 MONDO:0012644 Tags
Green Green List (high evidence)	IGF1R	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Insulin-like growth factor I, resistance to, 270450 (3) Tags
Green Green List (high evidence)	IGHM	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Agammaglobulinaemia 1, 601495 (3) Tags
Green Green List (high evidence)	IGHMBP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neuronopathy, distal hereditary motor, autosomal recessive 1 MIM#604320 Charcot-Marie-Tooth disease, axonal, type 2S MIM#616155 Tags
Green Green List (high evidence)	IKBKB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Immunodeficiency 15, MIM#615592 Tags
Green Green List (high evidence)	IL10RA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Early onset inflammatory bowel disease 28 (MIM# 613148) Tags
Green Green List (high evidence)	IL10RB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Inflammatory bowel disease 25, early onset, #MIM612657 Tags
Green Green List (high evidence)	IL11RA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Craniosynostosis and dental anomalies, MIM#614188 Tags
Green Green List (high evidence)	IL12RB1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Immunodeficiency 30, MIM#614891 Tags
Green Green List (high evidence)	IL17RA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Immunodeficiency 51, MIM #613953 Tags
Green Green List (high evidence)	IL1RAPL1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, X-linked 21, MIM#300143 Tags
Green Green List (high evidence)	IL1RN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Interleukin 1 receptor antagonist deficiency, MIM# 612852 Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis, MIM# 61285 Tags
Green Green List (high evidence)	IL2RG	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Severe combined immunodeficiency, X-linked, 300400 (3) Tags
Green Green List (high evidence)	IL7R	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes severe combined immunodeficiency 104 MIM#608971 Tags
Green Green List (high evidence)	IMPG2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Retinitis pigmentosa 56, MIM #613801 Tags
Green Green List (high evidence)	INPP5E	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Joubert syndrome 1, MIM# 213300 MONDO:0008944 Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156 MONDO:0012423 Tags
Green Green List (high evidence)	INPP5K	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Muscular dystrophy, congenital, with cataracts and intellectual disability MIM#617404 Tags founder
Green Green List (high evidence)	INPPL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Opsismodysplasia MIM #258480 Tags
Green Green List (high evidence)	INSR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Donohue syndrome MIM#246200 Rabson-Mendenhall syndrome MIM#262190 Tags
Green Green List (high evidence)	INVS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Nephronophthisis 2, infantile, (MIM#602088) Tags
Green Green List (high evidence)	IQCB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Senior-Loken syndrome 5 MIM#609254 Tags
Green Green List (high evidence)	IQSEC2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, X-linked 1 MIM#309530 Tags
Green Green List (high evidence)	ISCA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613 Tags
Green Green List (high evidence)	ISCA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Multiple mitochondrial dysfunctions syndrome 4, MIM #616370 Tags
Green Green List (high evidence)	ISPD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 (3) Tags new gene name
Green Green List (high evidence)	ITCH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Autoimmune disease, multisystem, with facial dysmorphism, 613385 (3) Tags
Green Green List (high evidence)	ITGA3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748 Tags
Green Green List (high evidence)	ITGA6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 (3) Tags
Green Green List (high evidence)	ITGB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leukocyte adhesion deficiency, 116920 (3) Tags
Green Green List (high evidence)	ITGB4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3) Tags
Green Green List (high evidence)	ITK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Lymphoproliferative syndrome 1 MIM# 613011 Tags
Green Green List (high evidence)	ITPR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Gillespie syndrome, MIM#206700 Tags
Green Green List (high evidence)	IVD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Isovaleric acidemia, MIM #243500 Tags
Green Green List (high evidence)	JAGN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Severe congenital neutropenia 6, MIM# 616022 Tags
Green Green List (high evidence)	JAK3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes SCID, autosomal recessive, T-negative/B-positive type, 600802 (3) Tags
Green Green List (high evidence)	JAM3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Haemorrhagic destruction of the brain, subependymal calcification, and cataracts MIM#613730 Tags
Green Green List (high evidence)	JUP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Naxos disease MIM#601214 Tags
Green Green List (high evidence)	KATNB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Lissencephaly 6, with microcephaly, MIM#616212 Tags
Green Green List (high evidence)	KCNJ1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bartter syndrome, type 2, MIM#241200 Tags
Green Green List (high evidence)	KCNJ10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes SESAME syndrome, MIM# 612780 EAST syndrome, MONDO:0013005 Tags
Green Green List (high evidence)	KCNJ11	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3) Tags
Green Green List (high evidence)	KCNQ1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Jervell and Lange-Nielsen syndrome, 220400 (3) Tags
Green Green List (high evidence)	KCNV2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Retinal cone dystrophy 3B MIM#610356 Tags
Green Green List (high evidence)	KCTD7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 (3) Tags
Green Green List (high evidence)	KDM5C	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534 (3) Tags
Green Green List (high evidence)	KIAA0586	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Short-rib thoracic dysplasia 14 with polydactyly (MIM#616546) Joubert syndrome 23 (MIM#616490) Tags
Green Green List (high evidence)	KIAA1109	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Alkuraya-Kucinskas syndrome MIM#617822 Tags new gene name
Green Green List (high evidence)	KIF14	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Microcephaly 20, primary, autosomal recessive, MIM #617914 Tags
Green Green List (high evidence)	KIF1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spastic paraplegia 30, autosomal recessive, MIM#610357 Tags
Green Green List (high evidence)	KIF1BP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Goldberg-Shprintzen megacolon syndrome, 609460 (3) Tags
Green Green List (high evidence)	KIF1C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spastic ataxia 2, autosomal recessive, MIM#611302 Tags
Green Green List (high evidence)	KIF7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Al-Gazali-Bakalinova syndrome MIM#607131 Hydrolethalus syndrome 2 MIM#614120 Acrocallosal syndrome MIM#200990 Joubert syndrome 12 MIM#200990 Tags
Green Green List (high evidence)	KLHL40	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Nemaline myopathy 8, autosomal recessive MIM#615348 Tags
Green Green List (high evidence)	KLHL41	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Nemaline myopathy 9, 615731 (3) Tags
Green Green List (high evidence)	KLHL7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes PERCHING syndrome, MIM#617055 Tags
Green Green List (high evidence)	KNL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Microcephaly 4, primary, autosomal recessive, MIM# 604321 MONDO:0011437 Tags
Green Green List (high evidence)	KPTN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, autosomal recessive 41 (MIM#615637) Tags
Green Green List (high evidence)	KRT10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epidermolytic hyperkeratosis 2B, autosomal recessive MIM#620707 MONDO:0700245 Tags
Green Green List (high evidence)	KRT14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive MIM# 601001 MONDO:0010976 Tags
Green Green List (high evidence)	KRT5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive, MIM#619599 Tags
Green Green List (high evidence)	KY	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Myopathy, myofibrillar, 7 (MIM#617114) Tags
Green Green List (high evidence)	L1CAM	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes MASA syndrome, MIM#303350 Hydrocephalus, congenital, X-linked, MIM#307000 Tags
Green Green List (high evidence)	L2HGDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes L-2-hydroxyglutaric aciduria, MIM#236792 Tags
Green Green List (high evidence)	LAMA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Poretti-Boltshauser syndrome, MIM #615960 Tags
Green Green List (high evidence)	LAMA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855 Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138 Tags
Green Green List (high evidence)	LAMA3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epidermolysis bullosa, junctional 2B, severe (MIM#619784) 3. Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous (MIM#245660) Epidermolysis bullosa, junctional 2A, intermediate (MIM#619783) Tags
Green Green List (high evidence)	LAMB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Lissencephaly 5, 615191 (3) Tags
Green Green List (high evidence)	LAMB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pierson syndrome, MIM# 609049 Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199 Tags
Green Green List (high evidence)	LAMB3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epidermolysis bullosa, junctional 1A, intermediate MIM#226650 Epidermolysis bullosa, junctional 1B, severe MIM#226700 Tags
Green Green List (high evidence)	LAMC2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epidermolysis bullosa, junctional 3B, severe MIM #619786 Epidermolysis bullosa, junctional 3A, intermediate MIM #619785 Tags
Green Green List (high evidence)	LAMC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cortical malformations, occipital, MIM #614115 Tags
Green Green List (high evidence)	LARGE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, MIM #613154 Tags
Green Green List (high evidence)	LARP7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Alazami syndrome MIM#615071 Tags
Green Green List (high evidence)	LARS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Infantile liver failure syndrome 1, MIM# 615438 Tags
Green Green List (high evidence)	LARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hydrops, lactic acidosis, and sideroblastic anaemia MIM#617021 Perrault syndrome 4 MIM#615300 Tags
Green Green List (high evidence)	LAT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Immunodeficiency 52, MIM# 617514 Tags
Green Green List (high evidence)	LBR	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Greenberg skeletal dysplasia MIM#215140 Regressive Spondylometaphyseal Dysplasia MIM#618019) Tags
Green Green List (high evidence)	LCA5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leber congenital amaurosis 5, MIM# 604537 Tags
Green Green List (high evidence)	LDHA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glycogen storage disease XI MIM#612933 Tags
Green Green List (high evidence)	LDLR	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes LDL cholesterol level QTL2/Hypercholesterolemia, familial Tags
Green Green List (high evidence)	LDLRAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Familial hypercholesterolemia 4, MIM#603813 Tags
Green Green List (high evidence)	LEP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Obesity, morbid, due to leptin deficiency, MIM#614962 Tags
Green Green List (high evidence)	LGI4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 (3), Autosomal recessive Tags
Green Green List (high evidence)	LHX3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pituitary hormone deficiency, combined, 3, MIM# 221750 Tags
Green Green List (high evidence)	LIAS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hyperglycinaemia, lactic acidosis, and seizures MIM#614462 Tags
Green Green List (high evidence)	LIFR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3) Tags
Green Green List (high evidence)	LIG4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes LIG4 syndrome, MIM# 606593 DNA ligase IV deficiency, MONDO:0011686 Tags
Green Green List (high evidence)	LINS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, autosomal recessive 2, MIM#614340 Tags
Green Green List (high evidence)	LIPA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Wolman disease, MIM#620151 Cholesteryl ester storage disease, MIM#278000 Tags
Green Green List (high evidence)	LIPT1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Lipoyltransferase 1 deficiency, MIM#616299 Tags
Green Green List (high evidence)	LMAN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Combined factor V and VIII deficiency, MIM#227300 Tags
Green Green List (high evidence)	LMBR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Acheiropody, MIM #200500 Tags
Green Green List (high evidence)	LMBRD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Methylmalonic aciduria and homocystinuria, cblF type, MIM#277380 Tags
Green Green List (high evidence)	LMNA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mandibuloacral dysplasia, MIM# 248370 Tags
Green Green List (high evidence)	LMOD3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Nemaline myopathy 10, MIM#616165 Tags
Green Green List (high evidence)	LONP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes CODAS syndrome, MIM#600373 Tags
Green Green List (high evidence)	LPIN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Myoglobinuria, acute recurrent, autosomal recessive, MIM#268200 Tags
Green Green List (high evidence)	LPIN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Majeed syndrome MIM#609628 Tags
Green Green List (high evidence)	LPL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Lipoprotein lipase deficiency MIM#238600 Tags
Green Green List (high evidence)	LRAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Retinal dystrophy, early-onset severe Leber congenital amaurosis 14 Retinitis pigmentosa, juvenile, all under MIM #613341 Tags
Green Green List (high evidence)	LRBA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Immunodeficiency, common variable, 8, with autoimmunity MIM#614700 Tags
Green Green List (high evidence)	LRIG2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Urofacial syndrome 2, MIM #615112 Tags
Green Green List (high evidence)	LRMDA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Albinism, oculocutaneous, type VII MIM#615179 MONDO:0014070 Tags
Green Green List (high evidence)	LRP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Donnai-Barrow syndrome, MIM #222448 Tags
Green Green List (high evidence)	LRP4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cenani-Lenz syndactyly syndrome, MIM #212780 Tags
Green Green List (high evidence)	LRP5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Exudative vitreoretinopathy 4 MIM#601813 Osteoporosis-pseudoglioma syndrome MIM#259770 Tags
Green Green List (high evidence)	LRPPRC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) MIM#220111 Tags
Green Green List (high evidence)	LRRC6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ciliary dyskinesia, primary, 19, 614935 (3) Tags
Green Green List (high evidence)	LTBP3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Dental anomalies and short stature, MIM #601216 Tags
Green Green List (high evidence)	LTBP4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cutis laxa, autosomal recessive, type IC, #613177 Tags
Green Green List (high evidence)	LYRM7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial complex III deficiency, nuclear type 8, MIM#615838, Autosomal recessive Tags
Green Green List (high evidence)	LYST	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Chediak-Higashi syndrome MIM#214500 Tags
Green Green List (high evidence)	LZTFL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bardet-Biedl syndrome 17 MIM#615994 MONDO:0014445 Tags
Green Green List (high evidence)	MALT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Immunodeficiency 12 MIM#615468 Tags
Green Green List (high evidence)	MAN1B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Rafiq syndrome, MIM# 614202 Tags
Green Green List (high evidence)	MAN2B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mannosidosis, alpha-, types I and II, 248500 (3) Tags
Green Green List (high evidence)	MANBA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mannosidosis, beta, MIM#248510 Tags
Green Green List (high evidence)	MAOA	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Brunner syndrome, MIM# 300615 Tags
Green Green List (high evidence)	MAPKBP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Nephronophthisis 20, MIM# 617271 MONDO:0014997 Tags
Green Green List (high evidence)	MARS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Interstitial lung and liver disease, MIM#615486 Tags new gene name
Green Green List (high evidence)	MARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Combined oxidative phosphorylation deficiency 25 MIM #616430, MONDO:0014636 Spastic ataxia 3, autosomal recessive, MIM #611390, MONDO:0012664 Tags
Green Green List (high evidence)	MASP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes 3MC syndrome 1, MIM# 257920 Tags
Green Green List (high evidence)	MBOAT7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, autosomal recessive 57, MIM #617188 Tags
Green Green List (high evidence)	MBTPS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes Spondyloepiphyseal dysplasia, Kondo-Fu type MIM#618392 Tags
Green Green List (high evidence)	MBTPS2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes IFAP syndrome with or without BRESHECK syndrome MIM#308205 Osteogenesis imperfecta, type XIX MIM#301014 Tags
Green Green List (high evidence)	MC2R	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glucocorticoid deficiency, due to ACTH unresponsiveness, MIM #202200 Tags
Green Green List (high evidence)	MCFD2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Factor V and factor VIII, combined deficiency of MIM#613625 Tags
Green Green List (high evidence)	MCOLN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mucolipidosis IV MIM#252650 Tags
Green Green List (high evidence)	MCPH1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Microcephaly 1, primary, autosomal recessive, MIM#251200 Tags
Green Green List (high evidence)	MECP2	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 Mackenzie's Mission Phenotypes Encephalopathy, neonatal severe MIM#300673 Intellectual developmental disorder, X-linked syndromic 13 MIM#300055 Intellectual developmental disorder, X-linked syndromic, Lubs type MIM#300260 Tags
Green Green List (high evidence)	MED12	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes MED12-related intellectual disability syndrome, MONDO:0100000 Tags
Green Green List (high evidence)	MED17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM#613668 Tags
Green Green List (high evidence)	MED23	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy MIM#614249 Tags
Green Green List (high evidence)	MED25	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome MONDO:0014643 Tags
Green Green List (high evidence)	MEGF10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital myopathy 10A, severe variant, MIM #614399 Congenital myopathy 10B, mild variant, MIM #620249 Tags
Green Green List (high evidence)	MEGF8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Carpenter syndrome 2, 614976 (3) Tags
Green Green List (high evidence)	MERTK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Retinitis pigmentosa 38, MIM#613862 Tags
Green Green List (high evidence)	MESP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spondylocostal dysostosis 2, MIM #608681 Tags
Green Green List (high evidence)	METTL23	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, autosomal recessive 44, MIM #615942 Tags
Green Green List (high evidence)	MFN2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 617087 Lipomatosis, multiple symmetric, with or without peripheral neuropathy, MIM# 151800 Tags
Green Green List (high evidence)	MFRP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Microphthalmia, isolated 5, MIM# 611040 Tags
Green Green List (high evidence)	MFSD2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities MIM#616486 Tags
Green Green List (high evidence)	MFSD8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ceroid lipofuscinosis, neuronal, 7, MIM# 610951 Tags
Green Green List (high evidence)	MGAT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital disorder of glycosylation, type IIa MIM#212066 Tags
Green Green List (high evidence)	MGME1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial DNA depletion syndrome 11, MIM#615084 Tags
Green Green List (high evidence)	MGP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Keutel syndrome, 245150 (3) Tags
Green Green List (high evidence)	MICU1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Myopathy with extrapyramidal signs, MIM# 615673 Tags
Green Green List (high evidence)	MID1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Opitz GBBB syndrome MIM#300000 MONDO:0017138 Tags
Green Green List (high evidence)	MKKS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bardet-Biedl syndrome 6 MIM#605231 McKusick-Kaufman syndrome MIM#236700 MKKS-related ciliopathy MONDO:1040050 Tags
Green Green List (high evidence)	MKS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bardet-Biedl syndrome 13 MIM#615990 Joubert syndrome 28 MIM#617121 Meckel syndrome 1 MIM#249000 Ciliopathy MONDO:0005308 Tags
Green Green List (high evidence)	MLC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Megalencephalic leukoencephalopathy with subcortical cysts 1, MIM #604004 Tags
Green Green List (high evidence)	MLYCD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Malonyl-CoA decarboxylase deficiency, MIM#248360 Tags
Green Green List (high evidence)	MMAA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Methylmalonic aciduria, vitamin B12-responsive, MIM#251100 Tags
Green Green List (high evidence)	MMAB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Methylmalonic aciduria, vitamin B12-responsive, cblB type MIM#251110 Tags
Green Green List (high evidence)	MMACHC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Methylmalonic aciduria and homocystinuria, cblC type MIM#277400 Tags
Green Green List (high evidence)	MMADHC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Methylmalonic aciduria and homocystinuria, cblD type, 277410 (3) Tags
Green Green List (high evidence)	MMP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Multicentric osteolysis, nodulosis, and arthropathy, MIM#259600 Tags
Green Green List (high evidence)	MMP21	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Heterotaxy, visceral, 7, autosomal MIM#616749 MONDO:0014762 Tags
Green Green List (high evidence)	MOCS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Molybdenum cofactor deficiency A, MIM#252150 Tags
Green Green List (high evidence)	MOCS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Molybdenum cofactor deficiency B, 252160 (3) Tags
Green Green List (high evidence)	MOGS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIb, MIM# 606056 Tags
Green Green List (high evidence)	MPDZ	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hydrocephalus, congenital, 2, with or without brain or eye anomalies MIM#615219 Tags
Green Green List (high evidence)	MPI	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital disorder of glycosylation, type Ib, MIM# 602579 Tags
Green Green List (high evidence)	MPL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Thrombocytopenia, congenital amegakaryocytic, 604498 (3) Tags
Green Green List (high evidence)	MPLKIP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Trichothiodystrophy 4, nonphotosensitive MIM#234050 Tags
Green Green List (high evidence)	MPV17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM#256810 Tags
Green Green List (high evidence)	MPZ	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Dejerine-Sottas disease, 145900 (3) Tags
Green Green List (high evidence)	MRAP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glucocorticoid deficiency 2, MIM #607398 Tags
Green Green List (high evidence)	MRE11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ataxia-telangiectasia-like disorder, 604391 (3) Tags
Green Green List (high evidence)	MSTO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Myopathy, mitochondrial, and ataxia, MIM#617675 Tags
Green Green List (high evidence)	MTFMT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leigh Syndrome MONDO:0009723 Tags
Green Green List (high evidence)	MTHFD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Combined immunodeficiency and megaloblastic anaemia with or without hyperhomocysteinemia, 617780 (3), Autosomal recessive Tags
Green Green List (high evidence)	MTHFR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Homocystinuria due to MTHFR deficiency, MIM# 236250 Tags
Green Green List (high evidence)	MTM1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Myopathy, centronuclear, X-linked MIM#310400 Tags
Green Green List (high evidence)	MTMR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Charcot-Marie-Tooth disease, type 4B1, MIM#601382 Tags
Green Green List (high evidence)	MTO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Combined oxidative phosphorylation deficiency 10, MIM#614702 Tags
Green Green List (high evidence)	MTPAP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial disease MONDO:0044970 Tags
Green Green List (high evidence)	MTR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Homocystinuria-megaloblastic anaemia, cblG complementation type, MIM# 250940 Tags
Green Green List (high evidence)	MTRR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Homocystinuria-megaloblastic anaemia, cbl E type, MIM #236270 Tags
Green Green List (high evidence)	MTTP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Abetalipoproteinemia MIM#200100 Tags
Green Green List (high evidence)	MUSK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fetal akinesia deformation sequence 1 MIM#208150 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency MIM#616325 Tags
Green Green List (high evidence)	MUT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Methylmalonic aciduria, mut(0) type, MIM# 251000 Tags
Green Green List (high evidence)	MVK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mevalonic aciduria, MIM#610377 Hyper-IgD syndrome, MIM#260920 Tags
Green Green List (high evidence)	MYD88	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Immunodeficiency 68, MIM# 612260 Tags
Green Green List (high evidence)	MYMK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Carey-Fineman-Ziter syndrome, MIM#254940 Tags
Green Green List (high evidence)	MYO5B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cholestasis, progressive familial intrahepatic, 10, MIM#619868 Diarrhea 2, with microvillus atrophy, with or without cholestasis, MIM#251850 Tags
Green Green List (high evidence)	MYO7A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Usher syndrome, type 1B, MIM# 276900 Tags
Green Green List (high evidence)	NAA10	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Ogden syndrome (MIM#300855) Syndromic microphthalmia 1 (MIM#309800) Tags
Green Green List (high evidence)	NAGA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Schindler disease, type I MIM#609241 Schindler disease, type III MIM#609241 Tags
Green Green List (high evidence)	NAGLU	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mucopolysaccharidosis type IIIB (Sanfilippo B) MIM#252920 Tags
Green Green List (high evidence)	NAGS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes N-acetylglutamate synthase deficiency MIM#237310 Tags
Green Green List (high evidence)	NALCN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (MIM#615419) Tags
Green Green List (high evidence)	NANS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spondyloepimetaphyseal dysplasia, Camera-Genevieve type (MIM#610442) Tags
Green Green List (high evidence)	NARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Combined oxidative phosphorylation deficiency 24 - MIM#616239, MONDO:0014547 Tags
Green Green List (high evidence)	NAXE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, MIM #617186 Tags
Green Green List (high evidence)	NBAS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM#614800 Infantile liver failure syndrome 2, MIM#616483 Tags
Green Green List (high evidence)	NBN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Nijmegen breakage syndrome, MIM#251260 Tags
Green Green List (high evidence)	NCF2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Chronic granulomatous disease 2, autosomal recessive, MIM# 233710 Tags
Green Green List (high evidence)	NDE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Lissencephaly 4 (with microcephaly), MIM#614019 Tags
Green Green List (high evidence)	NDP	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Norrie disease, MIM#310600 Tags
Green Green List (high evidence)	NDRG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Charcot-Marie-Tooth disease, type 4D MIM#601455 Tags
Green Green List (high evidence)	NDUFA1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial complex I deficiency, nuclear type 12 MIM#301020 Tags
Green Green List (high evidence)	NDUFA10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial complex I deficiency, nuclear type 22, MIM#618243 Tags
Green Green List (high evidence)	NDUFAF2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial complex I deficiency, nuclear type 10, MIM#618233 Tags
Green Green List (high evidence)	NDUFAF5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial complex I deficiency, nuclear type 16 MIM#618238 Tags
Green Green List (high evidence)	NDUFAF6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leigh syndrome MONDO:0009723 Mitochondrial complex I deficiency, nuclear type 17 MIM#618239 Tags
Green Green List (high evidence)	NDUFS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial complex I deficiency, nuclear type 5, MIM#618226 Tags
Green Green List (high evidence)	NDUFS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial complex I deficiency, nuclear type 6, MIM #618228 Tags
Green Green List (high evidence)	NDUFS4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial complex I deficiency, nuclear type 1, MIM#252010 Tags
Green Green List (high evidence)	NDUFS6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial complex I deficiency, nuclear type 9 (MIM#618232) Tags
Green Green List (high evidence)	NDUFS7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial complex I deficiency, nuclear type 3 MIM#618224 Tags
Green Green List (high evidence)	NDUFS8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial complex I deficiency, nuclear type 2 (MIM#618222) Tags
Green Green List (high evidence)	NDUFV1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial complex I deficiency, nuclear type 4 MIM#618225 Tags
Green Green List (high evidence)	NDUFV2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial complex I deficiency, nuclear type 7, MIM#618229, MONDO:0044970 Tags
Green Green List (high evidence)	NEB	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Nemaline myopathy 2, autosomal recessive (MIM#256030) Arthrogryposis multiplex congenita 6 (MIM#619334) Tags
Green Green List (high evidence)	NECTIN1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cleft lip/palate-ectodermal dysplasia syndrome, 225060 (3) Tags
Green Green List (high evidence)	NEK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Short-rib thoracic dysplasia 6 with or without polydactyly, MIM#263520 Tags
Green Green List (high evidence)	NEK8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Renal-hepatic-pancreatic dysplasia 2 MIM#615415 Tags
Green Green List (high evidence)	NEU1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Sialidosis, type I, MIM #256550 Sialidosis, type II, MIM #256550 Tags
Green Green List (high evidence)	NEXMIF	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 Mackenzie's Mission Phenotypes Intellectual developmental disorder, X-linked 98, MIM #300912 Tags
Green Green List (high evidence)	NFU1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Multiple mitochondrial dysfunctions syndrome 1, MIM#605711 Tags
Green Green List (high evidence)	NGF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neuropathy, hereditary sensory and autonomic, type V, 608654 (3) Tags
Green Green List (high evidence)	NGLY1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital disorder of deglycosylation, 615273 (3) Tags
Green Green List (high evidence)	NHEJ1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM#611291 Tags
Green Green List (high evidence)	NHLRC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Myoclonic epilepsy of Lafora 2, MIM# 620681 Tags
Green Green List (high evidence)	NHS	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 Mackenzie's Mission Phenotypes Nance-Horan syndrome MIM#302350 Tags
Green Green List (high evidence)	NIPAL4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ichthyosis, congenital, autosomal recessive 6 MIM#612281 Tags
Green Green List (high evidence)	NKX3-2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 (3), Autosomal recessive Tags
Green Green List (high evidence)	NKX6-2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy MIM#617560 Tags
Green Green List (high evidence)	NMNAT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leber congenital amaurosis 9, MIM#608553 Tags
Green Green List (high evidence)	NNT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency MIM#614736 MONDO:0013874 Tags
Green Green List (high evidence)	NPC1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Niemann-Pick disease, type C1, MIM#257220 Tags
Green Green List (high evidence)	NPC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Niemann-pick disease, type C2, MIM#607625 Tags
Green Green List (high evidence)	NPHP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Nephronophthisis 1, juvenile MIM#256100 Joubert syndrome 4 MIM#609583 Senior-Loken syndrome-1 MIM#266900 Tags
Green Green List (high evidence)	NPHP3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Renal-hepatic-pancreatic dysplasia 1 MIM#208540 Meckel syndrome 7 MIM#267010 Nephronophthisis 3 MIM#604387 Tags
Green Green List (high evidence)	NPHP4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Nephronophthisis 4 MONDO:0011752 Nephronophthisis 4 MIM#606966 Senior-Loken syndrome 4 MIM#606996 Tags
Green Green List (high evidence)	NPHS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Nephrotic syndrome, type 1, MIM# 256300 Tags
Green Green List (high evidence)	NPHS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Nephrotic syndrome, type 2 MIM#600995 Tags
Green Green List (high evidence)	NPR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Acromesomelic dysplasia, Maroteaux type, 602875 (3) Tags
Green Green List (high evidence)	NR0B1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Adrenal hypoplasia, congenital, MIM#300200 Tags
Green Green List (high evidence)	NSDHL	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes CK syndrome, MIM#300831 Tags
Green Green List (high evidence)	NSUN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, autosomal recessive 5, MIM# 611091 Tags
Green Green List (high evidence)	NT5C2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spastic paraplegia 45, autosomal recessive, MIM# 613162 Tags
Green Green List (high evidence)	NTNG2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM# 618718 Tags
Green Green List (high evidence)	NTRK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Insensitivity to pain, congenital, with anhidrosis MIM#256800 Tags
Green Green List (high evidence)	NUBPL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial complex I deficiency, nuclear type 21, MIM#618242 Tags
Green Green List (high evidence)	NUP107	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Galloway-Mowat syndrome 7, MIM#618348 Nephrotic syndrome, type 11, MIM#616730 Tags
Green Green List (high evidence)	NUP93	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Nephrotic syndrome, type 12 MIM#616892 Tags
Green Green List (high evidence)	NYX	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Night blindness, congenital stationary (complete), 1A, X-linked MIM310500 Tags
Green Green List (high evidence)	OBSL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes 3-M syndrome 2, 612921 (3) Tags
Green Green List (high evidence)	OCLN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pseudo-TORCH syndrome 1, MIM#251290 Tags
Green Green List (high evidence)	OCRL	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Dent disease 2 MIM#300555 Lowe syndrome MIM#309000 Tags
Green Green List (high evidence)	OFD1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Joubert syndrome 10 MIM#300804 Simpson-Golabi-Behmel syndrome, type 2 MIM#300209 Tags
Green Green List (high evidence)	OPA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Behr syndrome, MIM#210000 Tags
Green Green List (high evidence)	OPA3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes 3-methylglutaconic aciduria, type III MIM#258501 3-methylglutaconic aciduria type 3 MONDO:0009787 Tags
Green Green List (high evidence)	OPHN1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, X-linked syndromic, Billuart type MIM#300486 X-linked intellectual disability-cerebellar hypoplasia syndrome MONDO:0010337 Tags
Green Green List (high evidence)	ORAI1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Immunodeficiency 9, MIM#612782 Myopathy, tubular aggregate, 2, MIM#615883 Tags
Green Green List (high evidence)	ORC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Meier-Gorlin syndrome 1, 224690 (3) Tags
Green Green List (high evidence)	ORC6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Meier-Gorlin syndrome 3 MIM#613803 Tags
Green Green List (high evidence)	OSGEP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Galloway-Mowat syndrome 3, MIM# 617729 Tags
Green Green List (high evidence)	OSTM1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Osteopetrosis, autosomal recessive 5, MIM#259720 Tags
Green Green List (high evidence)	OTC	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Ornithine transcarbamylase deficiency, MIM# 311250 Tags
Green Green List (high evidence)	OTUD6B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies,MIM#617452 Tags
Green Green List (high evidence)	OTULIN	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive MIM#617099 Tags
Green Green List (high evidence)	OXCT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050 Tags
Green Green List (high evidence)	P3H1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Osteogenesis imperfecta, type VIII, MIM#610915 Tags
Green Green List (high evidence)	PAH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Phenylketonuria, MIM#261600 Tags
Green Green List (high evidence)	PAK3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, X-linked 30 MIM#300558 Tags
Green Green List (high evidence)	PANK2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neurodegeneration with brain iron accumulation 1, MIM#234200 Tags
Green Green List (high evidence)	PAPSS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Brachyolmia 4 with mild epiphyseal and metaphyseal changes, MIM#612847 Tags
Green Green List (high evidence)	PC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pyruvate carboxylase deficiency (MIM#266150) Tags
Green Green List (high evidence)	PCCA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Propionicacidemia, MIM#606054 Tags
Green Green List (high evidence)	PCCB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Propionicacidemia MIM#606054 propionic acidemia MONDO:0011628 Tags
Green Green List (high evidence)	PCDH12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Diencephalic-mesencephalic junction dysplasia syndrome 1 (MIM# 251280) Tags
Green Green List (high evidence)	PCDH15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Usher syndrome, type 1F, MIM# 602083 Tags
Green Green List (high evidence)	PCDH19	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 9 (MIM#300088) Tags
Green Green List (high evidence)	PCNT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720 MONDO:0008872 Tags
Green Green List (high evidence)	PCSK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Endocrinopathy due to proprotein convertase 1/3 deficiency,MIM#600955 Tags
Green Green List (high evidence)	PCYT1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spondylometaphyseal dysplasia with cone-rod dystrophy MIM#608940 Tags
Green Green List (high evidence)	PDE6C	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cone dystrophy 4, 613093 (3) Tags
Green Green List (high evidence)	PDHA1	3 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Pyruvate dehydrogenase E1-alpha deficiency (MIM#312170) Tags
Green Green List (high evidence)	PDHB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pyruvate dehydrogenase E1-beta deficiency, MIM#614111 Tags
Green Green List (high evidence)	PDHX	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lacticacidemia due to PDX1 deficiency MIM#245349 Mitochondrial disease MONDO:0044970 Tags
Green Green List (high evidence)	PDP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pyruvate dehydrogenase phosphatase deficiency,MIM#608782 Tags
Green Green List (high evidence)	PEPD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Prolidase deficiency, MIM# 170100 Tags
Green Green List (high evidence)	PET100	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial complex IV deficiency, nuclear type 12, MIM# 619055 Tags
Green Green List (high evidence)	PEX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Peroxisome biogenesis disorder 1A (Zellweger), MIM#214100 Tags
Green Green List (high evidence)	PEX10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Peroxisome biogenesis disorder 6A (Zellweger) MIM#614870 Peroxisome biogenesis disorder 6B MIM#614871 Tags
Green Green List (high evidence)	PEX11B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Peroxisome biogenesis disorder 14B MIM#614920 Tags
Green Green List (high evidence)	PEX12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Peroxisome biogenesis disorder 3A (Zellweger), MIM#614859 Peroxisome biogenesis disorder 3B, MIM#266510 Tags
Green Green List (high evidence)	PEX13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Peroxisome biogenesis disorder 11A (Zellweger), MIM#614883 Peroxisome biogenesis disorder 11B, MIM#614885 Tags
Green Green List (high evidence)	PEX16	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876 Peroxisome biogenesis disorder 8B MIM#614877 Tags
Green Green List (high evidence)	PEX19	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Peroxisome biogenesis disorder 12A (Zellweger) MIM#614886 Peroxisome biogenesis disorder MONDO:0019234 Tags for review
Green Green List (high evidence)	PEX2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Peroxisome biogenesis disorder 5A (Zellweger), MIM#614866 Peroxisome biogenesis disorder 5B, MIM#614867 Tags
Green Green List (high evidence)	PEX26	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Peroxisome biogenesis disorder 7A (Zellweger) - MIM#614872, MONDO:0013938 Peroxisome biogenesis disorder 7B - MIM#614873, MONDO:0013939 Tags
Green Green List (high evidence)	PEX3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Peroxisome biogenesis disorder 10A (Zellweger) MIM#614882 Peroxisome biogenesis disorder 10B MIM#617370 Peroxisome biogenesis disorder due to PEX3 defect MONDO:0100261 Tags
Green Green List (high evidence)	PEX5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Peroxisome Biogenesis Disorder, MONDO:0019234 Tags
Green Green List (high evidence)	PEX6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Peroxisome biogenesis disorder 4A (Zellweger), MIM# 614862 Peroxisome biogenesis disorder-4B, MIM# 614863 Tags
Green Green List (high evidence)	PEX7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Peroxisome biogenesis disorder 9B, MIM# 614879 Rhizomelic chondrodysplasia punctata, type 1, MIM# 215100 Tags
Green Green List (high evidence)	PFKM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glycogen storage disease VII MIM#232800 Tags
Green Green List (high evidence)	PGAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities, MIM# 615802 Tags
Green Green List (high evidence)	PGAP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hyperphosphatasia with impaired intellectual development syndrome 3, MIM#614207 Tags
Green Green List (high evidence)	PGAP3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318 Tags
Green Green List (high evidence)	PGK1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Phosphoglycerate kinase 1 deficiency, 300653 (3) Tags
Green Green List (high evidence)	PGM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital disorder of glycosylation, type It, 614921 (3) Tags
Green Green List (high evidence)	PGM3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Immunodeficiency 23, 615816 (3) Tags
Green Green List (high evidence)	PHF6	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Borjeson-Forssman-Lehmann syndrome, MIM# 301900 Tags
Green Green List (high evidence)	PHF8	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, X-linked syndromic, Siderius type, MIM#300263 Tags
Green Green List (high evidence)	PHGDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neu-Laxova syndrome 1 MIM#256520 Phosphoglycerate dehydrogenase deficiency MIM#601815 Tags
Green Green List (high evidence)	PHYH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Refsum disease MIM#266500 Tags
Green Green List (high evidence)	PIBF1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Joubert syndrome 33 (MIM#617767) Tags
Green Green List (high evidence)	PIEZO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lymphatic malformation 6, MIM#616843 Tags
Green Green List (high evidence)	PIEZO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Arthrogryposis, distal, with impaired proprioception and touch, MIM#617146 Tags
Green Green List (high evidence)	PIGA	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM#300868 Neurodevelopmental disorder with epilepsy and hemochromatosis, MIM#301072 Tags
Green Green List (high evidence)	PIGG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy MIM#616917 Tags
Green Green List (high evidence)	PIGL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes CHIME syndrome, MIM# 280000, MONDO:0010221 Tags
Green Green List (high evidence)	PIGN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 (3) Tags
Green Green List (high evidence)	PIGO	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hyperphosphatasia with impaired intellectual development syndrome 2, MIM#614749 Tags
Green Green List (high evidence)	PIGT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165 Tags
Green Green List (high evidence)	PIGV	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398 Tags
Green Green List (high evidence)	PIH1D3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Ciliary dyskinesia, primary, 36, X-linked, MIM #300991 Tags
Green Green List (high evidence)	PKHD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Polycystic kidney disease 4, with or without hepatic disease MIM#263200 Tags
Green Green List (high evidence)	PKLR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pyruvate kinase deficiency, MIM#266200 Tags
Green Green List (high evidence)	PLA2G6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neurodegeneration with brain iron accumulation 2B MIM#610217 Infantile neuroaxonal dystrophy 1 MIM#256600 Tags
Green Green List (high evidence)	PLAA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies,MIM#617527 Tags
Green Green List (high evidence)	PLCE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Nephrotic syndrome, type 3, 610725 (3) Tags
Green Green List (high evidence)	PLEC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive, MIM# 616487 Epidermolysis bullosa simplex 5B, with muscular dystrophy, MIM# 226670 Epidermolysis bullosa simplex 5C, with pyloric atresia MIM# 612138 Muscular dystrophy, limb-girdle, autosomal recessive 17, MIM# 613723 Tags
Green Green List (high evidence)	PLG	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Plasminogen deficiency, type I, 217090 (3) Tags
Green Green List (high evidence)	PLOD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ehlers-Danlos syndrome, kyphoscoliotic type, 1, MIM# 225400 Tags
Green Green List (high evidence)	PLOD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bruck syndrome 2, MIM#609220 Tags
Green Green List (high evidence)	PLP1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Pelizaeus-Merzbacher disease MIM#312080, Pelizeaus-Merzbacher spectrum disorder MONDO:0010714 Spastic paraplegia 2, X-linked MIM#312920, hereditary spastic paraplegia 2 MONDO:0010733 Tags
Green Green List (high evidence)	PLPBP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epilepsy, early-onset, vitamin B6-dependent, 617290 (3), Autosomal recessive Tags
Green Green List (high evidence)	PMM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital disorder of glycosylation, type Ia, 212065 (3) Tags
Green Green List (high evidence)	PMPCA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spinocerebellar ataxia 2, MIM#213200 Tags
Green Green List (high evidence)	PNKP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Charcot-Marie-Tooth disease, type 2B2 MIM#605589 Ataxia-oculomotor apraxia 4 MIM#616267 Microcephaly, seizures, and developmental delay MIM#613402 Tags
Green Green List (high evidence)	PNP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM# 613179 Tags
Green Green List (high evidence)	PNPLA6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Boucher-Neuhauser syndrome MIM#215470 Oliver-McFarlane syndrome MIM#275400 Spastic paraplegia 39, autosomal recessive MIM#612020 Tags
Green Green List (high evidence)	PNPO	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3) Tags
Green Green List (high evidence)	POC1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM# 614813 Tags
Green Green List (high evidence)	POLA1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM#301220 Van Esch-O'Driscoll syndrome, MIM #301030 Tags
Green Green List (high evidence)	POLE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes IMAGE-I syndrome MIM#618336 FILS syndrome MIM#615139 Tags
Green Green List (high evidence)	POLG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700 Mitochondrial DNA depletion syndrome 4B (MNGIE type), MIM#613662 Tags
Green Green List (high evidence)	POLR1C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leukodystrophy, hypomyelinating, 11 MIM#616494 Treacher Collins syndrome 3 MIM#248390 Tags
Green Green List (high evidence)	POLR3A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694 Wiedemann-Rautenstrauch syndrome, MIM# 264090 Tags
Green Green List (high evidence)	POLR3B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 (3) Tags
Green Green List (high evidence)	POMC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Obesity, adrenal insufficiency, and red hair due to POMC deficiency, MIM#609734 Tags
Green Green List (high evidence)	POMGNT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, MIM#253280 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3, MIM#613151 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 MIM#613157 Tags
Green Green List (high evidence)	POMGNT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8, 618135 Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, MIM#618135 Tags
Green Green List (high evidence)	POMK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM#615249 Tags
Green Green List (high evidence)	POMP	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952 (3) Tags
Green Green List (high evidence)	POMT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Myopathy caused by variation in POMT1 MONDO:0700070 Tags
Green Green List (high evidence)	POMT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM# 613150 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 2, MIM# 613156 Tags
Green Green List (high evidence)	POP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Anauxetic dysplasia 2, MIM#617396 Tags
Green Green List (high evidence)	POR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3) Tags
Green Green List (high evidence)	POU1F1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pituitary hormone deficiency, combined or isolated, 1, MIM#613038 Tags
Green Green List (high evidence)	PPA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Sudden cardiac failure, infantile, MIM#617222 Sudden cardiac failure, alcohol-induced, MIM#617223 Tags
Green Green List (high evidence)	PPIB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Osteogenesis imperfecta, type IX MIM#259440 Tags
Green Green List (high evidence)	PPT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ceroid lipofuscinosis, neuronal, 1, MIM# 256730 Tags
Green Green List (high evidence)	PQBP1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Renpenning syndrome, 309500 (3) Tags
Green Green List (high evidence)	PRDM12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488 Tags
Green Green List (high evidence)	PRDM5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Brittle cornea syndrome 2, MIM#614170 Tags
Green Green List (high evidence)	PRF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hemophagocytic lymphohistiocytosis, familial, 2, MIM#603553 Tags
Green Green List (high evidence)	PRG4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 (3) Tags
Green Green List (high evidence)	PRKRA	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Dystonia 16, MIM#612067 Tags
Green Green List (high evidence)	PROC	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Thrombophilia due to protein C deficiency, autosomal recessive, 612304 (3) Tags
Green Green List (high evidence)	PROP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pituitary hormone deficiency, combined, 2, MIM#262600 Tags
Green Green List (high evidence)	PROS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Thrombophilia 5 due to protein S deficiency, autosomal recessive #614514 Tags
Green Green List (high evidence)	PRPS1	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 Mackenzie's Mission Phenotypes PRPS1 deficiency disorder MONDO:0100061 Phosphoribosylpyrophosphate synthetase superactivity MIM#300661 MONDO:0010395 Tags
Green Green List (high evidence)	PRUNE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies MIM#617481 Tags
Green Green List (high evidence)	PRX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Charcot-Marie-Tooth disease, type 4F, MIM# 614895 Dejerine-Sottas disease, MIM# 145900 Tags
Green Green List (high evidence)	PSAP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Metachromatic leukodystrophy due to SAP-b deficiency, MIM#249900 Tags
Green Green List (high evidence)	PSAT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Phosphoserine aminotransferase deficiency MIM#610992 Neu-Laxova syndrome 2 MIM#616038 Tags
Green Green List (high evidence)	PSMB8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Proteasome-associated autoinflammatory syndrome 1, MIM# 256040 MONDO:0054698 Tags
Green Green List (high evidence)	PSPH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Phosphoserine phosphatase deficiency , MIM# 614023 Tags
Green Green List (high evidence)	PTH1R	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Chondrodysplasia, Blomstrand type (MIM#215045) Eiken syndrome (MIM#600002) Tags
Green Green List (high evidence)	PTS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640 Tags
Green Green List (high evidence)	PUS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 1, MIM# 600462 Tags
Green Green List (high evidence)	PXDN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Anterior segment dysgenesis 7, with sclerocornea, MIM#269400 Tags
Green Green List (high evidence)	PYCR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cutis laxa, autosomal recessive, type IIB MIM#612940 Cutis laxa, autosomal recessive, type IIIB MIM#614438 Tags
Green Green List (high evidence)	PYCR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leukodystrophy, hypomyelinating, 10, MIM#616420 Tags
Green Green List (high evidence)	PYROXD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Myopathy, myofibrillar, 8 MIM#617258 Tags
Green Green List (high evidence)	QARS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy MIM#615760 Tags
Green Green List (high evidence)	QDPR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hyperphenylalaninemia, BH4-deficient, C, MIM# 261630 Tags
Green Green List (high evidence)	RAB18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Warburg micro syndrome 3 MIM#614222 Tags
Green Green List (high evidence)	RAB23	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Carpenter syndrome, 201000 (3) Tags
Green Green List (high evidence)	RAB27A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Griscelli syndrome, type 2, MIM# 607624 Tags
Green Green List (high evidence)	RAB33B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Smith-McCort dysplasia 2, MIM #615222 Tags
Green Green List (high evidence)	RAB39B	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, X-linked 72, MIM #300271 Tags
Green Green List (high evidence)	RAB3GAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Warburg micro syndrome 1, 600118 (3) Tags
Green Green List (high evidence)	RAB3GAP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Warburg micro syndrome MONDO:0016649 Tags
Green Green List (high evidence)	RAD50	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Nijmegen breakage syndrome-like disorder, MIM# 613078 Tags
Green Green List (high evidence)	RAG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity MIM# 609889 Combined cellular and humoral immune defects with granulomas MIM# 233650 Omenn syndrome MIM# 603554 Severe combined immunodeficiency, B cell-negative MIM# 601457 Tags
Green Green List (high evidence)	RAG2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Severe combined immunodeficiency, B cell-negative, 601457 (3) Tags
Green Green List (high evidence)	RAPSN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency MIM#616326 Fetal akinesia deformation sequence 2 MIM#618388 Tags
Green Green List (high evidence)	RARS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leukodystrophy, hypomyelinating, 9, MIM#616140 Tags
Green Green List (high evidence)	RARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pontocerebellar hypoplasia, type 6, MIM#611523 Tags
Green Green List (high evidence)	RAX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Microphthalmia, syndromic 16, MIM #611038 Tags
Green Green List (high evidence)	RBBP8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Jawad syndrome MIM#251255 Seckel syndrome 2 MIM#606744 Tags
Green Green List (high evidence)	RBCK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Polyglucosan body myopathy 1 with or without immunodeficiency, MIM #615895 Tags
Green Green List (high evidence)	RBM10	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes TARP syndrome, 311900 (3) Tags
Green Green List (high evidence)	RD3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leber congenital amaurosis 12, 610612 (3) Tags
Green Green List (high evidence)	RDH12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leber congenital amaurosis 13, MIM#612712 Tags
Green Green List (high evidence)	RECQL4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Baller-Gerold syndrome, MIM# 218600 RAPADILINO syndrome, MIM# 266280 Rothmund-Thomson syndrome, type 2,MIM# 268400 Tags
Green Green List (high evidence)	REEP6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Retinitis pigmentosa 77 MIM#617304 Tags
Green Green List (high evidence)	REN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Renal tubular dysgenesis MIM#267430 Tags
Green Green List (high evidence)	RETREG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115 MONDO:0013142 Tags
Green Green List (high evidence)	RFT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital disorder of glycosylation, type In, MIM# 612015 Tags
Green Green List (high evidence)	RFX6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitchell-Riley syndrome, MIM# 615710 Tags
Green Green List (high evidence)	RFXANK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes MHC class II deficiency 2, MIM#620815 Tags
Green Green List (high evidence)	RFXAP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes MHC class II deficiency 4 MIM#620817 Tags
Green Green List (high evidence)	RIN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 (3) Tags
Green Green List (high evidence)	RIPK4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Popliteal pterygium syndrome, Bartsocas-Papas type 1, MIM# 263650 Tags
Green Green List (high evidence)	RLIM	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Tonne-Kalscheuer syndrome MIM#300978 Tags
Green Green List (high evidence)	RMND1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Combined oxidative phosphorylation deficiency 11, MIM#614922 Tags
Green Green List (high evidence)	RMRP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cartilage-hair hypoplasia, 250250 (3) Tags non-coding gene
Green Green List (high evidence)	RNASEH2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Aicardi-Goutieres syndrome 4 MIM#610333 RNASEH2A-related type 1 interferonopathy MONDO:0700259 Tags
Green Green List (high evidence)	RNASEH2B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Aicardi-Goutieres syndrome 2 MIM#610181 Tags
Green Green List (high evidence)	RNASEH2C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Aicardi-Goutieres syndrome 3, 610329 (3) Tags
Green Green List (high evidence)	RNASET2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leukoencephalopathy, cystic, without megalencephaly MIM#612951 Tags
Green Green List (high evidence)	RNU4ATAC	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes RNU4ATAC spectrum disorder MONDO:0100558 Tags non-coding gene
Green Green List (high evidence)	ROBO3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Gaze palsy, familial horizontal, with progressive scoliosis, 1 MIM#607313 Tags
Green Green List (high evidence)	ROGDI	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Kohlschutter-Tonz syndrome MIM#226750 Tags
Green Green List (high evidence)	ROR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Robinow syndrome, autosomal recessive MIM# 268310 Tags
Green Green List (high evidence)	RORC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Immunodeficiency 42 MIM#616622 Tags
Green Green List (high evidence)	RP2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Retinitis pigmentosa 2, MIM#312600 Tags
Green Green List (high evidence)	RPE65	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Retinitis pigmentosa 20, MIM#613794 Leber congenital amaurosis 2, MIM#204100 Tags
Green Green List (high evidence)	RPGRIP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cone-rod dystrophy 13 MIM#608194, MONDO:0011987, Leber congenital amaurosis MIM#61382,MONDO:0013446 Tags
Green Green List (high evidence)	RPGRIP1L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Joubert syndrome 7, MIM# 611560 Meckel syndrome 5, MIM# 611561 COACH syndrome 3, MIM# 619113 Ciliopathy, RPGRIP1L-related, MONDO:0005308 Tags
Green Green List (high evidence)	RPL10	3 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, X-linked, syndromic, 35, MIM300998 Tags
Green Green List (high evidence)	RPS6KA3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Coffin-Lowry syndrome, MIM#303600 Intellectual developmental disorder, X-linked 19 MIM#300844 Tags
Green Green List (high evidence)	RRM2B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission 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)	RSPH1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ciliary dyskinesia, primary, 24 MIM#615481 Tags
Green Green List (high evidence)	RSPH4A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ciliary dyskinesia, primary, 11, MIM# 612649 Tags
Green Green List (high evidence)	RSPH9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ciliary dyskinesia, primary, 12, MIM#612650 Tags
Green Green List (high evidence)	RTEL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Dyskeratosis congenita, autosomal recessive 5, MIM#615190 Tags
Green Green List (high evidence)	RTN4IP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Optic atrophy 10 with or without ataxia, impaired intellectual development and seizures MIM#616732 Tags
Green Green List (high evidence)	RTTN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Microcephaly, short stature, and polymicrogyria with seizures MIM#614833 Tags
Green Green List (high evidence)	RYR1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neuromuscular disease, congenital, with uniform type 1 fiber, MIM# 117000 Central core disease, MIM# 117000 Tags
Green Green List (high evidence)	SACS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spastic ataxia, Charlevoix-Saguenay type, MIM#270550 Tags SV/CNV
Green Green List (high evidence)	SAMHD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Aicardi-Goutieres syndrome 5, MIM# 612952 Tags
Green Green List (high evidence)	SAR1B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Chylomicron retention disease MIM#246700 Tags
Green Green List (high evidence)	SARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 (3) Tags
Green Green List (high evidence)	SBDS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Shwachman-Diamond syndrome, MIM#260400 Tags
Green Green List (high evidence)	SBF2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Charcot-Marie-Tooth disease, type 4B2 , MIM#604563, MONDO:0011475 Tags
Green Green List (high evidence)	SC5D	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Lathosterolosis, MIM#607330 Tags
Green Green List (high evidence)	SCARB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epilepsy, progressive myoclonic 4, with or without renal failure, MIM#254900 Tags
Green Green List (high evidence)	SCARF2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Van den Ende-Gupta syndrome, MIM#600920 Tags
Green Green List (high evidence)	SCN1B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 52, MIM#617350 Tags
Green Green List (high evidence)	SCN9A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Insensitivity to pain, congenital, MIM# 243000 Tags
Green Green List (high evidence)	SCNN1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pseudohypoaldosteronism, type IB1, autosomal recessive, MIM# 264350 Tags
Green Green List (high evidence)	SCNN1B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pseudohypoaldosteronism, type IB2, autosomal recessive, MIM#620125 Tags
Green Green List (high evidence)	SCO1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial disease MONDO:0044970 Mitochondrial complex IV deficiency, nuclear type 4 MIM#619048 Tags
Green Green List (high evidence)	SCO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial complex IV deficiency, nuclear type 2 MIM#604377 Tags
Green Green List (high evidence)	SCYL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spinocerebellar ataxia, autosomal recessive 21, MIM#616719 Tags
Green Green List (high evidence)	SDCCAG8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bardet-Biedl syndrome 16 (MIM# 615993) Senior-Loken syndrome 7 (MIM# 613615) Tags
Green Green List (high evidence)	SDHAF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial complex II deficiency, nuclear type 2, MIM#619166 Tags
Green Green List (high evidence)	SEC23B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Dyserythropoietic anaemia, congenital, type II MIM#224100 Tags
Green Green List (high evidence)	SELENON	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital myopathy 3 with rigid spine, MIM# 602771 Tags
Green Green List (high evidence)	SEPSECS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pontocerebellar hypoplasia type 2D, MIM# 613811 Tags
Green Green List (high evidence)	SERAC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739 Tags
Green Green List (high evidence)	SERPINF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Osteogenesis imperfecta, type VI, MIM# 613982 MONDO:0013515 Tags
Green Green List (high evidence)	SERPINH1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Osteogenesis imperfecta, type X, MIM# 613848 Osteogenesis imperfecta type 10, MONDO:0013459 Tags
Green Green List (high evidence)	SETX	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 (MIM#606002) Tags
Green Green List (high evidence)	SFTPB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Surfactant metabolism dysfunction, pulmonary, 1, MIM# 265120 Tags
Green Green List (high evidence)	SGCA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099 autosomal recessive limb-girdle muscular dystrophy type 2D, MONDO:0011968 Tags
Green Green List (high evidence)	SGCB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 4 MIM#604286 Tags
Green Green List (high evidence)	SGCD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287 Tags
Green Green List (high evidence)	SGCG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Muscular dystrophy, limb-girdle, type 2C, 253700 (3) Tags
Green Green List (high evidence)	SGPL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes RENI syndrome (MIM#617575) Tags
Green Green List (high evidence)	SGSH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mucopolysaccharidisis type IIIA (Sanfilippo A), MIM#252900 Tags
Green Green List (high evidence)	SH2D1A	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Lymphoproliferative syndrome, X-linked, 1, 308240 (3) Tags
Green Green List (high evidence)	SH3PXD2B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Frank-ter Haar syndrome, MIM#249420 Tags
Green Green List (high evidence)	SH3TC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Charcot-Marie-Tooth disease, type 4C, MIM#601596 Tags
Green Green List (high evidence)	SIL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Marinesco-Sjogren syndrome MIM#248800 Tags
Green Green List (high evidence)	SKIV2L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Trichohepatoenteric syndrome 2, MIM# 614602 Tags
Green Green List (high evidence)	SLC12A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bartter syndrome, type 1, MIM#601678 Tags
Green Green List (high evidence)	SLC12A5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Developmental and epileptic encephalopathy 34 MIM#616645 Tags
Green Green List (high evidence)	SLC12A6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Agenesis of the corpus callosum with peripheral neuropathy, MIM#218000 Tags
Green Green List (high evidence)	SLC13A5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905 Tags
Green Green List (high evidence)	SLC16A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Monocarboxylate transporter 1 deficiency, MIM#616095 Tags
Green Green List (high evidence)	SLC16A2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Allan-Herndon-Dudley syndrome, MIM #300523 Tags
Green Green List (high evidence)	SLC17A5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Sialic acid storage disorder, infantile (MIM#269920) Tags
Green Green List (high evidence)	SLC19A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Thiamine-responsive megaloblastic anaemia syndrome, MIM#249270 Tags
Green Green List (high evidence)	SLC19A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483 Tags
Green Green List (high evidence)	SLC1A4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 (3) Tags
Green Green List (high evidence)	SLC22A5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Carnitine deficiency, systemic primary, MIM# 212140, MONDO:0008919 Tags
Green Green List (high evidence)	SLC24A5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Albinism, oculocutaneous, type VI, MIM#113750 Tags
Green Green List (high evidence)	SLC25A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3) Myasthenic syndrome, congenital, 23, presynaptic, 618197 (3) Tags
Green Green List (high evidence)	SLC25A13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Citrullinemia, type II, neonatal-onset, 605814 (3) Tags
Green Green List (high evidence)	SLC25A15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hyperornithinaemia-hyperammonaemia-homocitrullinemia syndrome, MIM#238970 Tags
Green Green List (high evidence)	SLC25A19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) (MIM#613710) Microcephaly, Amish type (MIM#607196) Tags
Green Green List (high evidence)	SLC25A22	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epileptic encephalopathy, early infantile, 3, MIM#609304 Tags
Green Green List (high evidence)	SLC25A38	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Anaemia, sideroblastic, 1, MIM #300751 Tags
Green Green List (high evidence)	SLC25A46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neuropathy, hereditary motor and sensory, type VIB (MIM# 616505) Pontocerebellar hypoplasia, type 1E (MIM# 619303) Tags
Green Green List (high evidence)	SLC26A2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes diastrophic dysplasia MONDO:0009107 multiple epiphyseal dysplasia MONDO:0016648 atelosteogenesis type II MONDO:0009727 achondrogenesis type IB MONDO:0010966 Tags
Green Green List (high evidence)	SLC26A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Diarrhoea 1, secretory chloride, congenital MIM#214700 Tags
Green Green List (high evidence)	SLC29A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Histiocytosis-lymphadenopathy plus syndrome MIM#602782 Tags
Green Green List (high evidence)	SLC2A10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Arterial tortuosity syndrome, 208050 (3) Tags
Green Green List (high evidence)	SLC2A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fanconi-Bickel syndrome, MIM# 227810 Tags
Green Green List (high evidence)	SLC30A10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hypermanganesemia with dystonia 1, MIM#613280 Tags
Green Green List (high evidence)	SLC33A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital cataracts, hearing loss, and neurodegeneration, MIM#614482 Tags
Green Green List (high evidence)	SLC35A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Arthrogryposis, impaired intellectual development, and seizures MIM#615553 Tags
Green Green List (high evidence)	SLC35D1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Schneckenbecken dysplasia, MIM#269250 Tags
Green Green List (high evidence)	SLC37A4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glycogen storage disease Ib MIM#232220 Glycogen storage disease Ic MIM#232240 Glycogen Storage Disease I MONDO:0002413 Tags
Green Green List (high evidence)	SLC38A8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218 (3) Tags
Green Green List (high evidence)	SLC39A14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hypermanganesaemia with dystonia 2, MIM# 617013 Tags
Green Green List (high evidence)	SLC39A4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Acrodermatitis enteropathica, MIM# 201100 Tags
Green Green List (high evidence)	SLC39A8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital disorder of glycosylation, type IIn MIM#616721 Tags
Green Green List (high evidence)	SLC45A2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Albinism, oculocutaneous, type IV, 606574 (3) Tags
Green Green List (high evidence)	SLC46A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Folate malabsorption, hereditary, 229050 (3) Tags
Green Green List (high evidence)	SLC4A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Distal renal tubular acidosis 4 with haemolytic anaemia, MIM# 611590 Tags
Green Green List (high evidence)	SLC4A4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Renal tubular acidosis, proximal, with ocular abnormalities, MIM#604278 Tags
Green Green List (high evidence)	SLC52A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Brown-Vialetto-Van Laere syndrome 2, MIM# 614707 Tags
Green Green List (high evidence)	SLC52A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Brown-Vialetto-Van Laere syndrome 1, MIM#211530 Tags
Green Green List (high evidence)	SLC5A7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143 Tags
Green Green List (high evidence)	SLC6A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Parkinsonism-dystonia, infantile, 613135 (3) Tags
Green Green List (high evidence)	SLC6A5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hyperekplexia 3 MIM#614618 Tags
Green Green List (high evidence)	SLC6A8	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Cerebral creatine deficiency syndrome 1, MIM#300352 Tags
Green Green List (high evidence)	SLC7A7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Lysinuric protein intolerance, 222700 (3) Tags
Green Green List (high evidence)	SLC9A6	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, X-linked syndromic, Christianson type MIM#300243 Tags
Green Green List (high evidence)	SMARCAL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Schimke immunoosseous dysplasia, MIM# 242900 Tags
Green Green List (high evidence)	SMN1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spinal muscular atrophy-1, MIM# 253300, MONDO:0009669 Tags SV/CNV
Green Green List (high evidence)	SMPD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Niemann-Pick disease, type A, 257200 Niemann-Pick disease, type B, 607616 Tags
Green Green List (high evidence)	SMS	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type MIM#309583 Tags
Green Green List (high evidence)	SNAP29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3) Tags
Green Green List (high evidence)	SNX14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spinocerebellar ataxia, autosomal recessive 20 MIM#616354 Tags
Green Green List (high evidence)	SOST	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Sclerosteosis 1, OMIM#269500,MONDO:0010016 Tags
Green Green List (high evidence)	SP110	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hepatic venoocclusive disease with immunodeficiency, 235550 (3) Tags
Green Green List (high evidence)	SPAG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ciliary dyskinesia, primary, 28, 615505 (3) Tags
Green Green List (high evidence)	SPART	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Troyer syndrome (MIM#275900) SPG20 MONDO:0010156 Tags
Green Green List (high evidence)	SPATA5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, MIM# 616577 Tags new gene name
Green Green List (high evidence)	SPATA7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leber congenital amaurosis 3, MIM #604232 Retinitis pigmentosa 94, variable age at onset, autosomal recessive, MIM #604232 Tags
Green Green List (high evidence)	SPEG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Centronuclear myopathy 5, MIM# 615959 Tags
Green Green List (high evidence)	SPG11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hereditary spastic paraplegia 11 MONDO:0011445 Tags
Green Green List (high evidence)	SPINK5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Netherton syndrome MIM#256500 Tags
Green Green List (high evidence)	SPINT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Diarrhoea 3, secretory sodium, congenital, syndromic, MIM#270420 Tags
Green Green List (high evidence)	SPR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency MIM#612716 Tags
Green Green List (high evidence)	SQSTM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM#617145 Tags
Green Green List (high evidence)	SRD5A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital disorder of glycosylation, type Iq MIM#612379 Kahrizi syndrome#612713 SRD5A3-congenital disorder of glycosylation (MONDO:0012885) Tags
Green Green List (high evidence)	SSR4	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital disorder of glycosylation, type Iy MIM#300934 Tags
Green Green List (high evidence)	ST3GAL5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Salt and pepper developmental regression syndrome, MIM# 609056 Tags
Green Green List (high evidence)	STAMBP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Microcephaly-capillary malformation syndrome, 614261 (3) Tags
Green Green List (high evidence)	STAR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Lipoid adrenal hyperplasia, 201710 (3) Tags
Green Green List (high evidence)	STAT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive MIM#613796 Immunodeficiency 31B MONDO:0013427 Tags
Green Green List (high evidence)	STIL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Microcephaly 7, primary, (MIM# 612703) Tags
Green Green List (high evidence)	STIM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Immunodeficiency 10, 612783 (3) Tags
Green Green List (high evidence)	STRA6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Microphthalmia, isolated, with coloboma 8 MIM#601186 Microphthalmia, syndromic 9 MIM#601186 Tags
Green Green List (high evidence)	STRADA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Polyhydramnios, megalencephaly, and symptomatic epilepsy MIM#611087 Tags
Green Green List (high evidence)	STUB1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spinocerebellar ataxia, autosomal recessive 16 MIM#615768 Tags
Green Green List (high evidence)	STX11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Haemophagocytic lymphohistiocytosis, familial, 4, MIM#603552 Tags
Green Green List (high evidence)	STXBP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Haemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease MIM#613101 Tags
Green Green List (high evidence)	SUCLA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM#612073 Tags
Green Green List (high evidence)	SUCLG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 (3) Tags
Green Green List (high evidence)	SUMF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Multiple sulfatase deficiency, MIM#272200 Tags
Green Green List (high evidence)	SUOX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Sulfite oxidase deficiency MIM#272300 Tags
Green Green List (high evidence)	SURF1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial complex IV deficiency, nuclear type 1, MIM# 220110 Tags
Green Green List (high evidence)	SYN1	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders, MIM#300491 Intellectual developmental disorder, X-linked 50, MIM#300115 Tags
Green Green List (high evidence)	SYP	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, X-linked 96 (MIM#300802) Tags
Green Green List (high evidence)	TALDO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Transaldolase deficiency MIM#606003 Tags
Green Green List (high evidence)	TANGO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration Tags SV/CNV
Green Green List (high evidence)	TAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes MHC class I deficiency 1, MIM #604571 Tags
Green Green List (high evidence)	TAT	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Tyrosinemia, type II (MIM#276600) Tags
Green Green List (high evidence)	TAZ	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Barth syndrome (MIM# 302060) Tags
Green Green List (high evidence)	TBC1D20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Martsolf syndrome Warburg micro syndrome 4, MIM# 615663 Tags
Green Green List (high evidence)	TBC1D23	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pontocerebellar hypoplasia, type 11, MIM#617695 Tags
Green Green List (high evidence)	TBC1D24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Deafness, autosomal recessive 86 MIM#614617 Developmental and epileptic encephalopathy 16 MIM#615338 DOORS syndrome MIM#220500 Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp MIM#608105 Myoclonic epilepsy, infantile, familial MIM#605021 Tags
Green Green List (high evidence)	TBCD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193 Tags
Green Green List (high evidence)	TBCE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Encephalopathy, progressive, with amyotrophy and optic atrophy MIM#617207 Hypoparathyroidism-retardation-dysmorphism syndrome MIM#241410 Kenny-Caffey syndrome, type 1 MIM#244460 Tags
Green Green List (high evidence)	TBCK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, MIM# 616900 Tags
Green Green List (high evidence)	TBX19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Adrenocorticotropic hormone deficiency, MIM# 201400 Tags
Green Green List (high evidence)	TCAP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 7, MIM#601954 Tags
Green Green List (high evidence)	TCIRG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Osteopetrosis, autosomal recessive 1 MIM#259700 Tags
Green Green List (high evidence)	TCN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Transcobalamin II deficiency MIM#275350 Tags
Green Green List (high evidence)	TCTN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Joubert syndrome 24, MIM# 616654 MONDO:0014724 Meckel syndrome 8, MIM# 613885 MONDO:0013482 Tags
Green Green List (high evidence)	TCTN3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Joubert syndrome 18, MIM# 614815 MONDO:0013896 Orofaciodigital syndrome IV, MIM# 258860 MONDO:0009794 Tags
Green Green List (high evidence)	TDRD7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cataract 36 MIM#613887 Tags
Green Green List (high evidence)	TECPR2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, MIM#615031 Tags
Green Green List (high evidence)	TELO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes You-Hoover-Fong syndrome, MIM#616954 Tags
Green Green List (high evidence)	TF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Atransferrinaemia MIM#209300 Tags
Green Green List (high evidence)	TGM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ichthyosis, congenital, autosomal recessive 1, MIM#242300 Tags
Green Green List (high evidence)	TH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Segawa syndrome, recessive, MIM# 605407 Tags
Green Green List (high evidence)	THOC2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, X-linked 12 MIM#300957 Tags
Green Green List (high evidence)	TIMM8A	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Mohr-Tranebjaerg syndrome MIM#304700 Tags
Green Green List (high evidence)	TJP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cholestasis, progressive familial intrahepatic 4, MIM# 615878 Tags
Green Green List (high evidence)	TK2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type) MIM#609560 Tags
Green Green List (high evidence)	TMCO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1, MIM#213980 Tags
Green Green List (high evidence)	TMEM107	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Orofaciodigital syndrome XVI, MIM#617563 Tags
Green Green List (high evidence)	TMEM126A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Optic atrophy 7 MIM#612989 Tags
Green Green List (high evidence)	TMEM138	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Joubert syndrome 16, MIM#614465 Tags
Green Green List (high evidence)	TMEM165	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital disorder of glycosylation, type IIk, MIM#614727 Tags
Green Green List (high evidence)	TMEM216	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Joubert syndrome 2, MIM#608091 Meckel syndrome 2, MIM#603194 Retinitis pigmentosa 98, MIM#620996 ciliopathy MONDO:0005308 Tags
Green Green List (high evidence)	TMEM231	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Joubert syndrome 20, MIM#614970 Meckel syndrome 11, MIM#615397 Tags
Green Green List (high evidence)	TMEM237	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Joubert syndrome 14, MIM#614424 Tags
Green Green List (high evidence)	TMEM5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, 615041 (3) Tags
Green Green List (high evidence)	TMEM67	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes COACH syndrome 1 MIM#216360 Joubert syndrome 6 MIM#610688 Meckel syndrome 3 MIM#607361 Nephronophthisis 11 MIM#613550 Tags
Green Green List (high evidence)	TMEM70	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial disease MONDO:0044970 Tags
Green Green List (high evidence)	TMEM94	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Intellectual developmental disorder with cardiac defects and dysmorphic facies, MIM#618316 Tags
Green Green List (high evidence)	TMTC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Lissencephaly 8 MIM#617255, MONDO:0014992 Tags
Green Green List (high evidence)	TNFRSF11A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Osteopetrosis, autosomal recessive 7, MIM#612301 Tags
Green Green List (high evidence)	TNFRSF11B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Paget disease of bone 5, juvenile-onset MIM#239000 Tags
Green Green List (high evidence)	TNFSF11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Osteopetrosis, autosomal recessive 2, MIM#259710 Tags
Green Green List (high evidence)	TNNT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Nemaline myopathy 5A, autosomal recessive, severe infantile, MIM# 605355 Nemaline myopathy 5B, autosomal recessive, childhood-onset, MIM# 620386 Tags
Green Green List (high evidence)	TOE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pontocerebellar hypoplasia, type 7 MIM#614969 Tags
Green Green List (high evidence)	TP53RK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Galloway-Mowat syndrome 4, MIM# 617730 Tags
Green Green List (high evidence)	TPI1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Haemolytic anaemia due to triosephosphate isomerase deficiency MIM#615512 Tags
Green Green List (high evidence)	TPK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 (3) Tags
Green Green List (high evidence)	TPM3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital myopathy 4B, autosomal recessive MIM#609284 Tags
Green Green List (high evidence)	TPP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ceroid lipofuscinosis, neuronal, 2 MIM#204500 Spinocerebellar ataxia, autosomal recessive 7 MIM#609270 Tags
Green Green List (high evidence)	TPRKB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Galloway-Mowat syndrome 5, MIM# 617731 Tags
Green Green List (high evidence)	TRAPPC11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Muscular dystrophy, limb-girdle, type 2S, 615356 (3) Tags
Green Green List (high evidence)	TRAPPC6B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862 Tags
Green Green List (high evidence)	TRAPPC9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, autosomal recessive 13 MIM#613192 Tags
Green Green List (high evidence)	TRDN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cardiac arrhythmia syndrome, with or without skeletal muscle weakness MIM#615441 Catecholaminergic polymorphic ventricular tachycardia MONDO:0017990 Tags
Green Green List (high evidence)	TREX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750, MONDO:0009165 Tags
Green Green List (high evidence)	TRIM32	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 8 MIM#254110 Tags
Green Green List (high evidence)	TRIM37	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mulibrey nanism MIM#253250 Tags
Green Green List (high evidence)	TRIP11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Achondrogenesis, type IA, MIM#200600 Tags deep intronic
Green Green List (high evidence)	TRIT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Combined oxidative phosphorylation deficiency 35 MIM#617873 Tags
Green Green List (high evidence)	TRMT10A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Microcephaly, short stature, and impaired glucose metabolism, 616033 (3) Tags
Green Green List (high evidence)	TRMU	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Liver failure, transient infantile MIM# 613070 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins MONDO:0013111 Tags
Green Green List (high evidence)	TRNT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM #616084 Tags
Green Green List (high evidence)	TRPM6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hypomagnesemia 1, intestinal, 602014 (3) Tags
Green Green List (high evidence)	TSEN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pontocerebellar hypoplasia type 2B, MIM #612389 Tags
Green Green List (high evidence)	TSEN54	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pontocerebellar hypoplasia type 2A (MIM#277470) Pontocerebellar hypoplasia type 4 (MIM#225753) Tags
Green Green List (high evidence)	TSFM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Combined oxidative phosphorylation deficiency 3, MIM#610505 Tags
Green Green List (high evidence)	TSHB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hypothryoidism, congenital, nongoitrous 4, 275100 (3) Tags
Green Green List (high evidence)	TSPYL1	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Sudden infant death with dysgenesis of the testes syndrome, 608800 (3) Tags
Green Green List (high evidence)	TTC19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial complex III deficiency, nuclear type 2 MIM#615157 Tags
Green Green List (high evidence)	TTC21B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Short-rib thoracic dysplasia 4 with or without polydactyly, MIM #613819 Tags
Green Green List (high evidence)	TTC37	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Trichohepatoenteric syndrome 1 MIM#222470 Tags
Green Green List (high evidence)	TTC7A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Gastrointestinal defects and immunodeficiency syndrome MIM#243150 Tags
Green Green List (high evidence)	TTC8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bardet-Biedl syndrome 8, MIM #615985 Tags
Green Green List (high evidence)	TTI2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, autosomal recessive 39 MIM#615541 Tags
Green Green List (high evidence)	TTN	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes TTN-related myopathy MONDO:0100175 Tags
Green Green List (high evidence)	TTPA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ataxia with isolated vitamin E deficiency, 277460 (3) Tags
Green Green List (high evidence)	TUBGCP4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 (3) Tags
Green Green List (high evidence)	TUBGCP6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM #251270 Tags
Green Green List (high evidence)	TUFM	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Combined oxidative phosphorylation deficiency 4, 610678 (3) Tags
Green Green List (high evidence)	TULP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leber congenital amaurosis 15, MIM#613843 Retinitis pigmentosa 14, MIM#600132 Tags
Green Green List (high evidence)	TUSC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, autosomal recessive 7 MIM#611093 Tags
Green Green List (high evidence)	TWNK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), MIM#271245 Perrault syndrome 5, MIM#616138 Tags
Green Green List (high evidence)	TXNL4A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Burn-McKeown syndrome, MIM#608572 Tags
Green Green List (high evidence)	TYK2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Immunodeficiency 35, MIM #611521 Tags
Green Green List (high evidence)	TYMP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM#603041 Tags
Green Green List (high evidence)	TYR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Oculocutaneous albinism type 1 (MONDO:0018135) Albinism, oculocutaneous, type IA, MIM#203100 Albinism, oculocutaneous, type IB, MIM#606952 Tags
Green Green List (high evidence)	TYRP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Albinism, oculocutaneous, type III, 203290 (3) Tags
Green Green List (high evidence)	UBA1	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Spinal muscular atrophy, X-linked 2, infantile, 301830 (3) Tags
Green Green List (high evidence)	UBA5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Developmental and epileptic encephalopathy 44, MIM#617132 Tags
Green Green List (high evidence)	UBE2A	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, X-linked syndromic, Nascimento type, MIM #300860 Tags
Green Green List (high evidence)	UBE2T	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fanconi anaemia, complementation group T, MIM#616435 Tags
Green Green List (high evidence)	UBE3B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Kaufman oculocerebrofacial syndrome, 244450 (3) Tags
Green Green List (high evidence)	UBR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Johanson-Blizzard syndrome MIM#243800 Tags
Green Green List (high evidence)	UFM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leukodystrophy, hypomyelinating, 14, MIM#617899 Tags
Green Green List (high evidence)	UGT1A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bilirubin UDP-glucuronosyltransferase 1 deficiency (Disorders of bile acid metabolism and transport) Crigler-Najjar syndrome, type I MIM#218800 Crigler-Najjar syndrome, type II MIM#606785 Tags
Green Green List (high evidence)	UMPS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Orotic aciduria, MIM#258900 Tags
Green Green List (high evidence)	UNC13D	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Haemophagocytic lymphohistiocytosis, familial, 3, MIM#608898 Tags
Green Green List (high evidence)	UNC80	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, 616801 (3), Autosomal recessive Tags
Green Green List (high evidence)	UPF3B	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, X-linked syndromic 14 MIM#300676 Tags
Green Green List (high evidence)	UROS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Porphyria, congenital erythropoietic MIM#263700, cutaneous porphyria MONDO:0009902 Tags
Green Green List (high evidence)	USB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Poikiloderma with neutropenia MIM#604173 Tags
Green Green List (high evidence)	USH1C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Usher syndrome, type 1C MIM# 276904, MONDO:0010171 Tags
Green Green List (high evidence)	USH1G	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Usher syndrome, type 1G, 606943 (3) Tags
Green Green List (high evidence)	USH2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Usher syndrome, type 2A, MIM#276901 Tags
Green Green List (high evidence)	USP9X	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder 99 MIM#300919 syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968 Tags
Green Green List (high evidence)	VARS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy MIM#617802 Tags
Green Green List (high evidence)	VARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Combined oxidative phosphorylation deficiency 20 MIM#615917 Tags
Green Green List (high evidence)	VIPAS39	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 (3) Tags
Green Green List (high evidence)	VLDLR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cerebellar hypoplasia, impaired intellectual development, and dysequilibrium syndrome MIM#224050 Tags
Green Green List (high evidence)	VMA21	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Myopathy, X-linked, with excessive autophagy MIM#310440 Tags
Green Green List (high evidence)	VPS11	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leukodystrophy, hypomyelinating, 12, 616683 (3), Autosomal recessive Tags founder
Green Green List (high evidence)	VPS13B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cohen syndrome, MIM# 216550 Tags
Green Green List (high evidence)	VPS33B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1 MIM#208085 Cholestasis, progressive familial intrahepatic, 12 MIM#620010 Keratoderma-ichthyosis-deafness syndrome, autosomal recessive MIM#620009 Tags
Green Green List (high evidence)	VPS45	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neutropenia, severe congenital, 5, autosomal recessive, MIM#615285 Tags
Green Green List (high evidence)	VPS53	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pontocerebellar hypoplasia, type 2E, MIM#615851 Tags founder
Green Green List (high evidence)	VRK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pontocerebellar hypoplasia type 1A, MIM# 607596, MONDO:0011866 Neuronopathy, distal hereditary motor, autosomal recessive 10, MIM# 620542 Tags
Green Green List (high evidence)	VSX2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Microphthalmia with coloboma 3, MIM# 610092 Microphthalmia, isolated 2, MIM# 610093 Tags
Green Green List (high evidence)	WARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures MIM#617710 Parkinsonism-dystonia 3, childhood-onset MIM#619738 Tags
Green Green List (high evidence)	WAS	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Neutropenia, severe congenital, X-linked, MIM#300299 Thrombocytopenia, X-linked, MIM#313900 Wiskott-Aldrich syndrome, MIM#301000 Tags
Green Green List (high evidence)	WDR19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Nephronophthisis 13, MIM# 614377 Senior-Loken syndrome 8, MIM# 616307 Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376 Cranioectodermal dysplasia 4, MIM# 614378 Tags
Green Green List (high evidence)	WDR34	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Short-rib thoracic dysplasia 11 with or without polydactyly MIM# 615633, MONDO:0014287 Tags
Green Green List (high evidence)	WDR35	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cranioectodermal dysplasia 2 MIM#613610 Short-rib thoracic dysplasia 7 with or without polydactyly MIM#614091 Tags
Green Green List (high evidence)	WDR45B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 (3), Autosomal recessive Tags
Green Green List (high evidence)	WDR60	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 (3) Tags
Green Green List (high evidence)	WDR62	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM #604317 Tags
Green Green List (high evidence)	WDR73	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Galloway-Mowat syndrome 1, MIM# 251300 Tags
Green Green List (high evidence)	WDR81	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 MIM#610185, MONDO:0012430 Hydrocephalus, congenital, 3, with brain anomalies MIM#617967, MONDO:0054794 Tags
Green Green List (high evidence)	WFS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Wolfram syndrome 1 MIM#222300 Tags
Green Green List (high evidence)	WHRN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Usher syndrome, type 2D, MIM#611383 Tags
Green Green List (high evidence)	WISP3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Progressive pseudorheumatoid dysplasia MIM#208230 Tags new gene name
Green Green List (high evidence)	WNK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neuropathy, hereditary sensory and autonomic, type II MIM#201300 Tags
Green Green List (high evidence)	WNT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Osteogenesis imperfecta, type XV, 615220 (3) Tags
Green Green List (high evidence)	WNT10B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Split-hand/foot malformation 6, 225300 (3) Tags
Green Green List (high evidence)	WNT7A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Fuhrmann syndrome MIM#228930 Ulna and fibula, absence of, with severe limb deficiency MIM#276820 Tags
Green Green List (high evidence)	WRAP53	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Dyskeratosis congenita, autosomal recessive 3, 613988 (3) Tags
Green Green List (high evidence)	WRN	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Werner syndrome, MIM#277700 Tags
Green Green List (high evidence)	WWOX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spinocerebellar ataxia, autosomal recessive 12, MIM# 614322 Developmental and epileptic encephalopathy 28, MIM# 616211 Tags
Green Green List (high evidence)	XIAP	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Lymphoproliferative syndorme, X-linked, 2 MIM#300635 Tags
Green Green List (high evidence)	XPA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Xeroderma pigmentosum, group A , MIM#278700 Tags
Green Green List (high evidence)	XPC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Xeroderma pigmentosum, group C, 278720 (3) Tags
Green Green List (high evidence)	XPNPEP3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Nephronophthisis-like nephropathy 1, 613159 (3) Tags
Green Green List (high evidence)	XRCC4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Short stature, microcephaly, and endocrine dysfunction MIM#616541 Tags
Green Green List (high evidence)	XYLT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Desbuquois dysplasia 2, MIM#615777 Tags
Green Green List (high evidence)	XYLT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spondyloocular syndrome MIM#605822 Tags
Green Green List (high evidence)	YARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3) Tags
Green Green List (high evidence)	YIF1B	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Kaya-Barakat-Masson syndrome, MIM# 619125 Tags
Green Green List (high evidence)	ZAP70	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Autoimmune disease, multisystem, infantile-onset, 2 MIM#617006 Immunodeficiency 48 MIM#269840 Tags
Green Green List (high evidence)	ZBTB24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 2, MIM# 614069 MONDO:0013553 Tags
Green Green List (high evidence)	ZC4H2	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 Mackenzie's Mission Phenotypes Wieacker-Wolff syndrome MIM#314580 Tags
Green Green List (high evidence)	ZDHHC9	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Syndromic X-linked intellectual disability, Raymond type MIM#300799 MONDO:0010427 Tags
Green Green List (high evidence)	ZFYVE26	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spastic paraplegia 15, autosomal recessive, 270700 (3) Tags
Green Green List (high evidence)	ZIC3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital heart defects, nonsyndromic, 1, X-linked (MIM#306955) Heterotaxy, visceral, 1, X-linked (MIM#306955, MONDO:0010607) VACTERL association, X-linked, MIM# 314390, MONDO:0010752 Tags
Green Green List (high evidence)	ZMPSTE24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612 Restrictive dermopathy, lethal, MIM# 275210 Tags
Green Green List (high evidence)	ZMYND10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ciliary dyskinesia, primary, 22 (MIM#615444) Tags
Green Green List (high evidence)	ZNF335	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Microcephaly 10, primary, autosomal recessive, MIM# 615095 Tags
Green Green List (high evidence)	ZNF711	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Intellectual developmental disorder, X-linked 97, MIM# 300803 Tags
Green Green List (high evidence)	ZNHIT3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes PEHO syndrome MIM#260565 Tags
Amber Amber List (moderate evidence)	AFF2	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Amber Phenotypes Intellectual disability, X-linked, FRAXE type 309548 Tags
Amber Amber List (moderate evidence)	AIRE	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia (MIM#240300) Tags
Amber Amber List (moderate evidence)	BTD	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Biotinidase deficiency (MIM#253260) Tags
Amber Amber List (moderate evidence)	CBS	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Mackenzie's Mission Phenotypes Homocystinuria, B6-responsive and nonresponsive types, MIM#236200 Tags
Amber Amber List (moderate evidence)	CERKL	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Retinitis pigmentosa 26 (MIM#608380) Tags
Amber Amber List (moderate evidence)	CLN3	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Mackenzie's Mission Phenotypes Ceroid lipofuscinosis, neuronal, 3, MIM# 204200 MONDO:0008767 Tags SV/CNV
Amber Amber List (moderate evidence)	CNGA3	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Mackenzie's Mission Phenotypes Achromatopsia-2, 216900 (3) Tags
Amber Amber List (moderate evidence)	CSTB	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Mackenzie's Mission Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 (3) Tags STR
Amber Amber List (moderate evidence)	F5	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Mackenzie's Mission Phenotypes Factor V deficiency, 227400 (3) Tags
Amber Amber List (moderate evidence)	GBA	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Mackenzie's Mission Phenotypes Gaucher disease, perinatal lethal, 608013 (3) Tags
Amber Amber List (moderate evidence)	IKBKG	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Mackenzie's Mission Phenotypes Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 (3) Tags
Amber Amber List (moderate evidence)	LRSAM1	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Mackenzie's Mission Phenotypes Charcot-Marie-Toothe disease, axonal, type 2P, 614436 (3) Tags
Amber Amber List (moderate evidence)	NCF1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Mackenzie's Mission Phenotypes Chronic granulomatous disease 1, autosomal recessive (MIM#233700) Tags
Amber Amber List (moderate evidence)	PIP5K1C	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Mackenzie's Mission Phenotypes Lethal congenital contractural syndrome 3, 611369 (3) Tags
Amber Amber List (moderate evidence)	RARB	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Mackenzie's Mission Phenotypes Microphthalmia, syndromic 12 MIM#615524 Tags
Amber Amber List (moderate evidence)	RBM8A	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Thrombocytopenia-absent radius syndrome MIM#274000 Tags
Amber Amber List (moderate evidence)	RCBTB1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Mackenzie's Mission Phenotypes Retinal dystrophy with or without extraocular anomalies (MIM#617175) Tags
Amber Amber List (moderate evidence)	RPGR	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Mackenzie's Mission Phenotypes Retinitis pigmentosa 3 (MIM#300029) Tags
Amber Amber List (moderate evidence)	SHOX	1 review	Other	Sources Expert Review Amber Mackenzie's Mission Phenotypes Langer mesomelic dysplasia, 249700 (3) Tags SV/CNV
Amber Amber List (moderate evidence)	SLC9A3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Mackenzie's Mission Phenotypes Diarrhea 8, secretory sodium, congenital, 616868 (3), Autosomal recessive Tags
Amber Amber List (moderate evidence)	UQCRC2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Mackenzie's Mission Phenotypes Mitochondrial complex III deficiency, nuclear type 5, 615160 (3) Tags
Amber Amber List (moderate evidence)	VWF	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Mackenzie's Mission Phenotypes von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3) Tags
Red Red List (low evidence)	ABCA4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Cone-rod dystrophy 3 MIM#604116 Stargardt disease 1 MIM#248200 Retinal dystrophy, early-onset severe MIM#248200 Tags
Red Red List (low evidence)	ABCC6	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Pseudoxanthoma elasticum MIM#264800 Arterial calcification, generalized, of infancy, 2 MIM#614473 Tags
Red Red List (low evidence)	ACSF3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Combined malonic and methylmalonic aciduria, MIM#614265 Tags
Red Red List (low evidence)	ALG2	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228 Congenital disorder of glycosylation, type Ii, MIM# 607906 Tags
Red Red List (low evidence)	AMN	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Imerslund-Grasbeck syndrome 2 (MIM#618882) Tags
Red Red List (low evidence)	BRIP1	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Fanconi Anaemia, complementation group J, MIM# 609054 Tags for review
Red Red List (low evidence)	C6	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes C6 deficiency, 612446 (3) Tags
Red Red List (low evidence)	C7	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes C7 deficiency, 610102 (3) Tags
Red Red List (low evidence)	C8B	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes C8 deficiency, type II (MIM#613789) Tags
Red Red List (low evidence)	CARD9	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Immunodeficiency 103, susceptibility to fungal infection, MIM# 212050 Tags
Red Red List (low evidence)	CD81	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Immunodeficiency, common variable, 6, 613496 (3) Tags
Red Red List (low evidence)	CHM	3 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Mackenzie's Mission Phenotypes Choroideremia (MIM#303100) Tags
Red Red List (low evidence)	CIB2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Deafness, autosomal recessive 48 MIM#609439 Tags
Red Red List (low evidence)	COL2A1	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Spondyloperipheral dysplasia, MIM #271700 Tags
Red Red List (low evidence)	CTSF	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362 (3) Tags
Red Red List (low evidence)	CYP21A2	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency (MIM#201910) Tags
Red Red List (low evidence)	DSTYK	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Spastic paraplegia 23, MIM# 270750 Tags
Red Red List (low evidence)	EMG1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Bowen-Conradi syndrome, 211180 (3) Tags
Red Red List (low evidence)	EYS	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Retinitis pigmentosa 25 (MIM#602772) Tags
Red Red List (low evidence)	F11	2 reviews 1 red	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Factor XI deficiency, autosomal recessive, (MIM#612416) Tags
Red Red List (low evidence)	F8	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Mackenzie's Mission Phenotypes Hemophilia A, 306700 (3) Tags SV/CNV
Red Red List (low evidence)	F9	2 reviews 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Mackenzie's Mission Phenotypes Hemophilia B, 306900 (3) Tags
Red Red List (low evidence)	FAM161A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Retinitis pigmentosa 28, MIM #606068 Tags
Red Red List (low evidence)	FTCD	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Glutamate formiminotransferase deficiency (MIM#229100) Tags
Red Red List (low evidence)	G6PD	2 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Phenotypes Haemolytic anaemia, G6PD deficient (favism) (MIM#300908) Tags
Red Red List (low evidence)	GALK1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Galactokinase deficiency with cataracts (MIM#230200) Tags
Red Red List (low evidence)	GJB2	2 reviews 1 red	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Bart-Pumphrey syndrome, MIM#149200 Deafness, autosomal dominant 3A, MIM#601544 Deafness, autosomal recessive 1A, MIM#220290 Hystrix-like ichthyosis with deafness, MIM#602540 Keratitis-ichthyosis-deafness syndrome, MIM#148210 Keratoderma, palmoplantar, with deafness, MIM#148350 Vohwinkel syndrome, MIM# 124500 Tags
Red Red List (low evidence)	GK	2 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Mackenzie's Mission Phenotypes Glycerol kinase deficiency, 307030 (3) Tags
Red Red List (low evidence)	GNE	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Nonaka myopathy MIM#605820 Thrombocytopenia 12 with or without myopathy MIM#620757 Tags
Red Red List (low evidence)	GP1BA	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Bernard-Soulier syndrome, type A1 (recessive), (MIM#231200), AR (AR BSS) von Willebrand disease, platelet-type, (MIM#177820), AD (VWD) MONDO:0008332 Bernard-Soulier syndrome, type A2 (dominant), (MIM#153670) (AD BSS) MONDO:0007930 Tags
Red Red List (low evidence)	GP9	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Bernard-Soulier syndrome, type C (MIM#231200) Tags
Red Red List (low evidence)	GRHPR	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Hyperoxaluria, primary, type II (MIM#260000) Tags
Red Red List (low evidence)	GYS2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Glycogen storage disease 0, liver, 240600 (3) Tags
Red Red List (low evidence)	HBA1	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Erythrocytosis 7, MIM# 617981 Heinz body anemias, alpha-, MIM# 140700 Methemoglobinemia, alpha type , MIM#617973 Thalassemias, alpha-, MIM# 604131 Hemoglobin H disease, nondeletional, MIM# 613978 Tags SV/CNV
Red Red List (low evidence)	HBA2	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Erythrocytosis 7, MIM# 617981 Heinz body anaemia, MIM# 140700 Haemoglobin H disease, deletional and nondeletional, MIM# 613978 Thalassaemia, alpha-, MIM# 604131 Tags SV/CNV
Red Red List (low evidence)	HFE	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Hemochromatosis (MIM#235200) Tags
Red Red List (low evidence)	HGD	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Alkaptonuria (MIM#203500) Tags
Red Red List (low evidence)	HOGA1	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Hyperoxaluria, primary, type III (MIM#613616) Tags
Red Red List (low evidence)	HYAL1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Mucopolysaccharidosis type IX (MIM#601492) Tags
Red Red List (low evidence)	IGFBP7	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Retinal arterial macroaneurysm with supravalvular pulmonic stenosis, MIM#614224 Tags
Red Red List (low evidence)	KCNE1	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Jervell and Lange-Nielsen syndrome 2, MIM# 612347 Tags
Red Red List (low evidence)	KRT8	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Mackenzie's Mission Phenotypes Cirrhosis, cryptogenic, MIM#215600 Tags
Red Red List (low evidence)	KRT85	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Ectodermal dysplasia 4, hair/nail type, 602032 (3) Tags
Red Red List (low evidence)	LCAT	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Norum disease, MIM#245900 Fish-eye disease, MIM# 136120 Tags
Red Red List (low evidence)	LDHB	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Lactate dehydrogenase-B deficiency, MIM# 614128 Tags
Red Red List (low evidence)	LIPC	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Hepatic lipase deficiency, MIM# 614025 Tags
Red Red List (low evidence)	LOXHD1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Deafness, autosomal recessive 77 (MIM#613079) Tags
Red Red List (low evidence)	MCCC1	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes 3-Methylcrotonyl-CoA carboxylase 1 deficiency (MIM#210200) Tags
Red Red List (low evidence)	MCCC2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes 3-Methylcrotonyl-CoA carboxylase 2 deficiency (MIM#210210) Tags
Red Red List (low evidence)	MCM4	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Immunodeficiency 54, MIM# 609981 Tags
Red Red List (low evidence)	MEFV	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Familial Mediterranean fever, AR (MIM#249100) Tags
Red Red List (low evidence)	NDUFA11	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Mitochondrial complex I deficiency, nuclear type 14, MIM#618236 Tags
Red Red List (low evidence)	NLGN4X	3 reviews 3 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Mackenzie's Mission Phenotypes Intellectual developmental disorder, X-linked (MIM#300495) Tags
Red Red List (low evidence)	NR2E3	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Enhanced S-cone syndrome (MIM#268100) Retinitis pigmentosa 37 (MIM#611131) Tags
Red Red List (low evidence)	NUP62	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Striatonigral degeneration, infantile - MIM#271930 Tags
Red Red List (low evidence)	OAT	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Gyrate atrophy of choroid and retina with or without ornithinemia (MIM#258870) Tags
Red Red List (low evidence)	OCA2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Albinism, oculocutaneous, type II (MIM#203200) Tags
Red Red List (low evidence)	OPN1LW	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Mackenzie's Mission Phenotypes Blue cone monochromacy, MIM#303700 Colorblindness, protan, MIM#303900 Tags
Red Red List (low evidence)	PDE6B	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Retinitis pigmentosa-40, MIM #613801 Tags
Red Red List (low evidence)	PKD1L1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Heterotaxy, visceral, 8, autosomal MIM#617205 Tags
Red Red List (low evidence)	POLR1D	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Treacher Collins syndrome 2 MIM#613717 Tags
Red Red List (low evidence)	PRICKLE1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Epilepsy, progressive myoclonic 1B, MIM# 612437 Tags
Red Red List (low evidence)	PTPN23	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890 Tags for review
Red Red List (low evidence)	PUS7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes OMIM #618342 Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature Tags for review
Red Red List (low evidence)	PYGM	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes McArdle disease (MIM#232600) Tags
Red Red List (low evidence)	RS1	2 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Phenotypes Retinoschisis (MIM#312700) Tags
Red Red List (low evidence)	SAMD9	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Tumoral calcinosis, familial, normophosphatemic, 610455 (3) Tags
Red Red List (low evidence)	SEC23A	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Craniolenticulosutural dysplasia (MIM# 607812) Tags
Red Red List (low evidence)	SEMA4A	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Cone-rod dystrophy 10, 610283 Retinitis pigmentosa 35, 610282 Tags
Red Red List (low evidence)	SERPINA1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Emphysema-cirrhosis, due to AAT deficiency, 613490 (3) Tags
Red Red List (low evidence)	SGO1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Chronic atrial and intestinal dysrhythmia, 616201 (3) Tags founder
Red Red List (low evidence)	SLC12A3	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Gitelman syndrome (MIM#263800) Tags
Red Red List (low evidence)	SLC26A4	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Deafness, autosomal recessive 4, with enlarged vestibular aqueduct (MIM#600791) Pendred syndrome (MIM#274600) Tags
Red Red List (low evidence)	SLC4A11	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Corneal dystrophy, Fuchs endothelial, 4, MIM# 613268 Corneal endothelial dystrophy and perceptive deafness, MIM# 217400 Corneal endothelial dystrophy, autosomal recessive, MIM# 217700 Tags
Red Red List (low evidence)	SNORD118	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Leukoencephalopathy, brain calcifications, and cysts, 614561 (3), Autosomal recessive Tags non-coding gene
Red Red List (low evidence)	TBX22	2 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Red Phenotypes Cleft palate with ankyloglossia, MIM #303400 Tags
Red Red List (low evidence)	TFR2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Haemochromatosis, type 3, MIM#604250 Tags
Red Red List (low evidence)	TNFRSF13B	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Immunodeficiency, common variable, 2, 240500 (3) Tags
Red Red List (low evidence)	TRAC	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Immunodeficiency 7, TCR-alpha/beta deficient, 615387 (3) Tags
Red Red List (low evidence)	TRAPPC12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM# 617669 Tags for review
Red Red List (low evidence)	TSPAN7	3 reviews 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Mackenzie's Mission Phenotypes Intellectual developmental disorder, X-linked 58, MIM #300210, MONDO:0010266 Tags disputed
Red Red List (low evidence)	TUBA8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Polymicrogyria with optic nerve hypoplasia MONDO:0013172 Tags
Red Red List (low evidence)	UPB1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Beta-ureidopropionase deficiency, MIM# 613161 MONDO:0013164 Tags
Red Red List (low evidence)	UQCRQ	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Mitochondrial complex III deficiency, nuclear type 4, 615159 (3) Tags
Red Red List (low evidence)	VKORC1	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Vitamin K-dependent clotting factors, combined deficiency of, 2, MIM#607473 Tags
Red Red List (low evidence)	VPS13A	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Choreoacanthocytosis, 200150 (3) Tags
Red Red List (low evidence)	VPS37A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Spastic paraplegia 53, autosomal recessive, 614898 (3) Tags
Red Red List (low evidence)	WNT10A	2 reviews 2 red	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Odontoonychodermal dysplasia 257980 AR Schopf-Schulz-Passarge syndrome 224750 AR Tooth agenesis, selective, 4 150400 AR, AD Tags
Red Red List (low evidence)	ZNF469	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Brittle cornea syndrome 1, MIM #229200 Tags for review

Major version comments

2025-04-24 08:57 Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics) promoted panel to 2.0
Fully reviewed, revised and promoted to V2.

2022-09-11 21:55 Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics) promoted panel to 1.0
Revised and promoted to V1.

Prepair 1000+ (Version 2.7)

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