BRIDGE_SPEED_NEURO_v2.0_20160416 (Version 0.11)

This Panel is marked as Internal

Description

Genes in this panel are BRIDGE consortium Tier 1 genes from NIHR BioResource - Rare Diseases Study (NIHRBR-RD) sent by Karyn Megy, WGS Clinical Feedback Lead which incorporates pertinent genes from the Specialist Pathology: Evaluating Exomes in Diagnostics project (SPEED_NEURO) which covers epilepsies, movement and microcephaly disorders.
 
The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: 
- Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge
- Manju Kurian, Paediatric neurologist, Great Ormond Street Hosptial
- Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
- Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
- Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
- Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust

Panel Activity

4 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
BRIDGE consortium (NIHRBR-RD)

Group: Other
Workplace: Other
Catherine Snow (Genomics England)

Group: Other
Workplace: Other

981 Entities

981 reviewed, 0 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 981 Entitiess
Red Red List (low evidence)	AAAS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Achalasia-addisonianism-alacrimia syndrome, 231550 Tags
Red Red List (low evidence)	ABAT	1 review 1 green	Unknown	Sources BRIDGE Phenotypes GABA-transaminase deficiency, 613163 Tags
Red Red List (low evidence)	ABCB7	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Anemia, sideroblastic, with ataxia, 301310 Tags
Red Red List (low evidence)	ABCC9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Cardiomyopathy, dilated, 1O, 608569 Atrial fibrillation, familial, 12, 614050 Hypertrichotic osteochondrodysplasia, 239850 Tags
Red Red List (low evidence)	ABCD1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Adrenoleukodystrophy, 300100 Adrenomyeloneuropathy, adult, 300100 Tags
Red Red List (low evidence)	ABHD12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674 Tags
Red Red List (low evidence)	ABHD5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Chanarin-Dorfman syndrome, 275630 Tags
Red Red List (low evidence)	ACAD9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes ACAD9 deficiency, 611126 Tags
Red Red List (low evidence)	ACADM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450 Tags
Red Red List (low evidence)	ACADS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 Tags
Red Red List (low evidence)	ACADVL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes VLCAD deficiency, 201475 Tags
Red Red List (low evidence)	ACAT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Alpha-methylacetoacetic aciduria, 203750 Tags
Red Red List (low evidence)	ACOX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Peroxisomal acyl-CoA oxidase deficiency, 264470 Tags
Red Red List (low evidence)	ACTB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Tags
Red Red List (low evidence)	ACTG1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Dystonia, juvenile-onset, 607371 Baraitser-Winter syndrome 1, 243310 Tags
Red Red List (low evidence)	ACY1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Aminoacylase 1 deficiency, 609924 Tags
Red Red List (low evidence)	ADAR	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Aicardi-Goutieres syndrome 6, 615010 Dyschromatosis symmetrica hereditaria, 127400 Tags
Red Red List (low evidence)	ADCY5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Dyskinesia, familial, with facial myokymia, 606703 Tags
Red Red List (low evidence)	ADGRG1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Polymicrogyria, bilateral frontoparietal, 606854 Polymicrogyria, bilateral perisylvian, 615752 Tags
Red Red List (low evidence)	ADGRV1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Other Phenotypes Febrile seizures, familial, 4, 604352 Usher syndrome, type 2C, 605472 Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472 Tags
Red Red List (low evidence)	ADNP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Mental retardation, autosomal dominant, 28, 615873 Tags
Red Red List (low evidence)	ADSL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Adenylosuccinase deficiency, 103050 Tags
Red Red List (low evidence)	AFF2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Mental retardation, X-linked, FRAXE type, 309548 Tags
Red Red List (low evidence)	AFF4	1 review 1 green	Unknown	Sources BRIDGE Tags
Red Red List (low evidence)	AFG3L2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Spinocerebellar ataxia 28, 610246 Ataxia, spastic, 5, autosomal recessive, 614487 Tags
Red Red List (low evidence)	AGA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Aspartylglucosaminuria, 208400 Tags
Red Red List (low evidence)	AGK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Sengers syndrome, 212350 Cataract 38, autosomal recessive, 614691 Tags
Red Red List (low evidence)	AGL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Glycogen storage disease IIIa, 232400 Glycogen storage disease IIIb, 232400 Tags
Red Red List (low evidence)	AGPS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Rhizomelic chondrodysplasia punctata, type 3, 600121 Tags
Red Red List (low evidence)	AGXT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Hyperoxaluria, primary, type 1, 259900 Tags
Red Red List (low evidence)	AHDC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Tags
Red Red List (low evidence)	AIRE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 Tags
Red Red List (low evidence)	AKR1D1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Bile acid synthesis defect, congenital, 2, 235555 Tags
Red Red List (low evidence)	AKT1	1 review 1 green	Other - please specify in evaluation comments	Sources BRIDGE Phenotypes Breast cancer, somatic, 114480 Colorectal cancer, somatic, 114500 Ovarian cancer, somatic, 167000 {Schizophrenia, susceptibility to}, 181500 Proteus syndrome, somatic, 176920 Cowden syndrome 6, 615109 Tags
Red Red List (low evidence)	ALAD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Porphyria, acute hepatic, 612740 {Lead poisoning, susceptibility to}, 612740 Tags
Red Red List (low evidence)	ALDH18A1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Cutis laxa, autosomal recessive, type IIIA, 219150 Tags
Red Red List (low evidence)	ALDH1A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Microphthalmia, isolated 8, 615113 Tags
Red Red List (low evidence)	ALDH3A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Sjogren-Larsson syndrome, 270200 Tags
Red Red List (low evidence)	ALDH4A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Hyperprolinemia, type II, 239510 Tags
Red Red List (low evidence)	ALDH5A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Succinic semialdehyde dehydrogenase deficiency, 271980 Tags
Red Red List (low evidence)	ALDH7A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Epilepsy, pyridoxine-dependent, 266100 Tags
Red Red List (low evidence)	ALDOA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Glycogen storage disease XII, 611881 Tags
Red Red List (low evidence)	ALDOB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Fructose intolerance, 229600 Tags
Red Red List (low evidence)	ALG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Congenital disorder of glycosylation, type Ik, 608540 Tags
Red Red List (low evidence)	ALG12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Congenital disorder of glycosylation, type Ig, 607143 Tags
Red Red List (low evidence)	ALG3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Congenital disorder of glycosylation, type Id, 601110 Tags
Red Red List (low evidence)	ALG6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Congenital disorder of glycosylation, type Ic, 603147 Tags
Red Red List (low evidence)	ALG8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Congenital disorder of glycosylation, type Ih, 608104 Tags
Red Red List (low evidence)	ALMS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Alstrom syndrome, 203800 Tags
Red Red List (low evidence)	ALPL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Hypophosphatasia, infantile, 241500 Hypophosphatasia, childhood, 241510 Odontohypophosphatasia, 146300 Hypophosphatasia, adult, 146300 Tags
Red Red List (low evidence)	ALS2	1 review 1 green	Other - please specify in evaluation comments	Sources BRIDGE Phenotypes Amyotrophic lateral sclerosis 2, juvenile, 205100 Primary lateral sclerosis, juvenile, 606353 Spastic paralysis, infantile onset ascending, 607225 Tags
Red Red List (low evidence)	ALX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes ?Frontonasal dysplasia 3, 613456 Tags
Red Red List (low evidence)	ALX3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Frontonasal dysplasia 1, 136760 Tags
Red Red List (low evidence)	AMER1	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 BRIDGE Phenotypes Osteopathia striata with cranial sclerosis, 300373 Tags
Red Red List (low evidence)	AMPD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes ?Spastic paraplegia 63, 615686 Pontocerebellar hypoplasia, type 9, 615809 Tags
Red Red List (low evidence)	AMT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Glycine encephalopathy, 605899 Tags
Red Red List (low evidence)	ANKH	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Craniometaphyseal dysplasia, 123000 Chondrocalcinosis 2, 118600 Tags
Red Red List (low evidence)	ANKRD11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes KBG syndrome, 148050 Tags
Red Red List (low evidence)	ANO10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Spinocerebellar ataxia, autosomal recessive 10, 613728 Tags
Red Red List (low evidence)	ANO3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Dystonia 24, 615034 Tags
Red Red List (low evidence)	ANO5	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Gnathodiaphyseal dysplasia, 166260 Muscular dystrophy, limb-girdle, type 2L, 611307 Miyoshi muscular dystrophy 3, 613319 Tags
Red Red List (low evidence)	ANTXR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes {Hemangioma, capillary infantile, susceptibility to}, 602089 GAPO syndrome, 230740 Tags
Red Red List (low evidence)	AP1S2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Mental retardation, X-linked syndromic 5, 304340 Tags
Red Red List (low evidence)	AP4B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Spastic paraplegia 47, autosomal recessive, 614066 Tags
Red Red List (low evidence)	AP4E1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Spastic paraplegia 51, autosomal recessive, 613744 Tags
Red Red List (low evidence)	AP4M1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Spastic paraplegia 50, autosomal recessive, 612936 Tags
Red Red List (low evidence)	AP4S1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Spastic paraplegia 52, autosomal recessive, 614067 Tags
Red Red List (low evidence)	AP5Z1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Spastic paraplegia 48, autosomal recessive, 613647 Tags
Red Red List (low evidence)	APOPT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Mitochondrial complex IV deficiency Tags new-gene-name
Red Red List (low evidence)	APTX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 Tags
Red Red List (low evidence)	AR	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Androgen insensitivity, 300068 Spinal and bulbar muscular atrophy of Kennedy, 313200 Androgen insensitivity, partial, with or without breast cancer, 312300 {Prostate cancer, susceptibility to}, 176807 Hypospadias 1, X-linked, 300633 Tags
Red Red List (low evidence)	ARFGEF2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Periventricular heterotopia with microcephaly, 608097 Tags
Red Red List (low evidence)	ARG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Argininemia, 207800 Tags
Red Red List (low evidence)	ARHGEF9	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Epileptic encephalopathy, early infantile, 8, 300607 Tags
Red Red List (low evidence)	ARID1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Mental retardation, autosomal dominant 14, 614607 Tags
Red Red List (low evidence)	ARID1B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Mental retardation, autosomal dominant 12, 614562 Tags
Red Red List (low evidence)	ARL6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Bardet-Biedl syndrome 3, 600151 {Bardet-Biedl syndrome 1, modifier of}, 209900 ?Retinitis pigmentosa 55, 613575 Tags
Red Red List (low evidence)	ARSA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Metachromatic leukodystrophy, 250100 Tags
Red Red List (low evidence)	ARSB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 Tags
Red Red List (low evidence)	ARSE	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Chondrodysplasia punctata, X-linked recessive, 302950 Tags new-gene-name
Red Red List (low evidence)	ARX	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Epileptic encephalopathy, early infantile, 1, 308350 Lissencephaly, X-linked 2, 300215 Mental retardation, X-linked 29 and others, 300419 Proud syndrome, 300004 Partington syndrome, 309510 Hydranencephaly with abnormal genitalia, 300215 Tags
Red Red List (low evidence)	ASAH1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Farber lipogranulomatosis, 228000 Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 Tags
Red Red List (low evidence)	ASL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Argininosuccinic aciduria, 207900 Tags
Red Red List (low evidence)	ASPA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Canavan disease, 271900 Tags
Red Red List (low evidence)	ASPM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Microcephaly 5, primary, autosomal recessive, 608716 Tags
Red Red List (low evidence)	ASS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Citrullinemia, 215700 Tags
Red Red List (low evidence)	ASXL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Bohring-Opitz syndrome, 605039 Myelodysplastic syndrome, somatic, 614286 Tags
Red Red List (low evidence)	ATCAY	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Ataxia, cerebellar, Cayman type, 601238 Tags
Red Red List (low evidence)	ATIC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes AICA-ribosiduria due to ATIC deficiency, 608688 Tags
Red Red List (low evidence)	ATL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Spastic paraplegia 3A, autosomal dominant, 182600 Neuropathy, hereditary sensory, type ID, 613708 Tags
Red Red List (low evidence)	ATM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Ataxia-telangiectasia, 208900 Lymphoma, B-cell non-Hodgkin, somatic {Breast cancer, susceptibility to}, 114480 Lymphoma, mantle cell T-cell prolymphocytic leukemia, somatic Tags
Red Red List (low evidence)	ATN1	1 review 1 green	Other - please specify in evaluation comments	Sources BRIDGE Phenotypes Dentatorubro-pallidoluysian atrophy, 125370 Tags
Red Red List (low evidence)	ATP13A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Kufor-Rakeb syndrome, 606693 ?Ceroid lipofuscinosis, neuronal, 12, 606693 Tags
Red Red List (low evidence)	ATP1A3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Dystonia-12, 128235 Alternating hemiplegia of childhood 2, 614820 CAPOS syndrome, 601338 Tags
Red Red List (low evidence)	ATP6AP2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes ?Mental retardation, X-linked, syndromic, Hedera type, 300423 ?Parkinsonism with spasticity, X-linked, 300911 Tags
Red Red List (low evidence)	ATP7A	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Menkes disease, 309400 Occipital horn syndrome, 304150 Spinal muscular atrophy, distal, X-linked 3, 300489 Tags
Red Red List (low evidence)	ATP7B	1 review 1 green	Other - please specify in evaluation comments	Sources BRIDGE Phenotypes Wilson disease, 277900 Tags
Red Red List (low evidence)	ATP8B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Cholestasis, progressive familial intrahepatic 1, 211600 Cholestasis, benign recurrent intrahepatic, 243300 Cholestasis, intrahepatic, of pregnancy, 1, 147480 Tags
Red Red List (low evidence)	ATRX	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Alpha-thalassemia/mental retardation syndrome, 301040 Alpha-thalassemia myelodysplasia syndrome, somatic, 300448 Mental retardation-hypotonic facies syndrome, X-linked, 309580 Tags
Red Red List (low evidence)	ATXN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Spinocerebellar ataxia 1, 164400 Tags
Red Red List (low evidence)	ATXN10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Spinocerebellar ataxia 10, 603516 Tags
Red Red List (low evidence)	ATXN2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Spinocerebellar ataxia 2, 183090 {Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090 Tags
Red Red List (low evidence)	ATXN3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE Tags
Red Red List (low evidence)	ATXN7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Spinocerebellar ataxia 7, 164500 Tags
Red Red List (low evidence)	AUH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes 3-methylglutaconic aciduria, type I, 250950 Tags
Red Red List (low evidence)	AUTS2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Mental retardation, autosomal dominant 26, 615834 Tags
Red Red List (low evidence)	B3GALT6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640 Ehlers-Danlos syndrome, progeroid type, 2, 615349 Tags
Red Red List (low evidence)	B4GALNT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Spastic paraplegia 26, autosomal recessive, 609195 Tags
Red Red List (low evidence)	B4GALT7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Ehlers-Danlos syndrome, progeroid type, 1, 130070 Tags
Red Red List (low evidence)	BBS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Tags
Red Red List (low evidence)	BBS10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Bardet-Biedl syndrome 10, 615987 Tags
Red Red List (low evidence)	BBS12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Bardet-Biedl syndrome 12, 615989 Tags
Red Red List (low evidence)	BBS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Bardet-Biedl syndrome 2, 615981 Tags
Red Red List (low evidence)	BBS4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Bardet-Biedl syndrome 4, 615982 Tags
Red Red List (low evidence)	BBS5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Bardet-Biedl syndrome 5, 615983 Tags
Red Red List (low evidence)	BBS7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Bardet-Biedl syndrome 7, 615984 Tags
Red Red List (low evidence)	BBS9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Bardet-Biedl syndrome 9, 615986 Tags
Red Red List (low evidence)	BCAP31	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Deafness, dystonia, and cerebral hypomyelination, 300475 Tags
Red Red List (low evidence)	BCKDHA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Maple syrup urine disease, type Ia, 248600 Tags
Red Red List (low evidence)	BCKDHB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Maple syrup urine disease, type Ib, 248600 Tags
Red Red List (low evidence)	BCL11A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Intellectual Disability Tags
Red Red List (low evidence)	BCOR	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 BRIDGE Phenotypes Microphthalmia, syndromic 2, 300166 Tags
Red Red List (low evidence)	BCS1L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Mitochondrial complex III deficiency, nuclear type 1, 124000 Leigh syndrome, 256000 Bjornstad syndrome, 262000 GRACILE syndrome, 603358 Tags
Red Red List (low evidence)	BEAN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Spinocerebellar ataxia 31, 117210 Tags
Red Red List (low evidence)	BICD2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 Tags
Red Red List (low evidence)	BIN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Myopathy, centronuclear, autosomal recessive, 255200 Tags
Red Red List (low evidence)	BLM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Bloom syndrome, 210900 Tags
Red Red List (low evidence)	BMP4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Microphthalmia, syndromic 6, 607932 Orofacial cleft 11, 600625 Tags
Red Red List (low evidence)	BMPER	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Diaphanospondylodysostosis, 608022 Tags
Red Red List (low evidence)	BRAF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Melanoma, malignant, somatic Colorectal cancer, somatic Adenocarcinoma of lung, somatic, 211980 Nonsmall cell lung cancer, somatic Cardiofaciocutaneous syndrome, 115150 Noonan syndrome 7, 613706 LEOPARD syndrome 3, 613707 Tags
Red Red List (low evidence)	BRAT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 Tags
Red Red List (low evidence)	BRCA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes {Breast-ovarian cancer, familial, 1}, 604370 {Pancreatic cancer, susceptibility to, 4}, 614320 Tags
Red Red List (low evidence)	BRCA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes {Breast-ovarian cancer, familial, 2}, 612555 Fanconi anemia, complementation group D1, 605724 Prostate cancer, 176807 {Breast cancer, male, susceptibility to}, 114480 Wilms tumor, 194070 {Medulloblastoma}, 155255 {Glioblastoma 3}, 613029 {Pre-B-cell acute lymphoblastic leukemia} Pancreatic cancer, 613347 Tags
Red Red List (low evidence)	BRIP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Breast cancer, early-onset, 114480 Fanconi anemia, complementation group J, 609054 Tags
Red Red List (low evidence)	BRWD3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Mental retardation, X-linked 93, 300659 Tags
Red Red List (low evidence)	BSCL2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Lipodystrophy, congenital generalized, type 2, 269700 Silver spastic paraplegia syndrome, 270685 Neuropathy, distal hereditary motor, type VA, 600794 Encephalopathy, progressive, with or without lipodystrophy, 615924 Tags
Red Red List (low evidence)	BSND	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Bartter syndrome, type 4a, 602522 Sensorineural deafness with mild renal dysfunction, 602522 Tags
Red Red List (low evidence)	BTD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Biotinidase deficiency, 253260 Tags
Red Red List (low evidence)	BUB1B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Colorectal cancer, somatic, 114500 Mosaic variegated aneuploidy syndrome 1, 257300 [Premature chromatid separation trait], 176430 Tags
Red Red List (low evidence)	C12orf65	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Combined oxidative phosphorylation deficiency 7, 613559 Spastic paraplegia 55, autosomal recessive, 615035 Tags new-gene-name
Red Red List (low evidence)	C19orf12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Neurodegeneration with brain iron accumulation 4, 614298 ?Spastic paraplegia 43, autosomal recessive, 615043 Tags
Red Red List (low evidence)	C2orf71	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Retinitis pigmentosa 54, 613428 Tags new-gene-name
Red Red List (low evidence)	C5orf42	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Joubert syndrome 17, 614615 Orofaciodigital syndrome VI, 277170 Tags new-gene-name
Red Red List (low evidence)	C9orf72	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Amyotrophic lateral sclerosis and/or frontotemporal dementia, 105550 Tags
Red Red List (low evidence)	CA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 Tags
Red Red List (low evidence)	CA8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 Tags
Red Red List (low evidence)	CACNA1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Migraine, familial hemiplegic, 1, 141500 Episodic ataxia, type 2, 108500 Spinocerebellar ataxia 6, 183086 Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 Tags
Red Red List (low evidence)	CACNA1S	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Hypokalemic periodic paralysis, type 1, 170400 {Malignant hyperthermia susceptibility 5}, 601887 {Thyrotoxic periodic paralysis, susceptibility to, 1}, 188580 Tags
Red Red List (low evidence)	CACNB4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes {Epilepsy, juvenile myoclonic, susceptibility to, 6}, 607682 {Epilepsy, idiopathic generalized, susceptibility to, 9}, 607682 Episodic ataxia, type 5, 613855 Tags
Red Red List (low evidence)	CAMTA1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Cerebellar ataxia, nonprogressive, with mental retardation, 614756 Tags
Red Red List (low evidence)	CASK	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 BRIDGE Phenotypes Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749 FG syndrome 4, 300422 Mental retardation, with or without nystagmus, 300422 Tags
Red Red List (low evidence)	CASR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Hypocalciuric hypercalcemia, type I, 145980 Hyperparathyroidism, neonatal, 239200 Hypocalcemia, autosomal dominant, 601198 Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198 {Epilepsy idiopathic generalized, susceptibility to, 8}, 612899 Hypercalciuric hypercalcemia {Calcium, serum level of} Tags
Red Red List (low evidence)	CBL	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563 Tags
Red Red List (low evidence)	CBS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Homocystinuria, B6-responsive and nonresponsive types, 236200 Thrombosis, hyperhomocysteinemic, 236200 Tags
Red Red List (low evidence)	CC2D1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Mental retardation, autosomal recessive 3, 608443 Tags
Red Red List (low evidence)	CC2D2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Joubert syndrome 9, 612285 Meckel syndrome 6, 612284 COACH syndrome, 216360 Tags
Red Red List (low evidence)	CCBE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Hennekam lymphangiectasia-lymphedema syndrome 1, 235510 Tags
Red Red List (low evidence)	CCDC39	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Ciliary dyskinesia, primary, 14, 613807 Tags
Red Red List (low evidence)	CCDC88C	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Hydrocephalus, nonsyndromic, autosomal recessive, 236600 ?Spinocerebellar ataxia 40, 616053 Tags
Red Red List (low evidence)	CCND2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938 Tags
Red Red List (low evidence)	CCT5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Neuropathy, hereditary sensory, with spastic paraplegia, 256840 Tags
Red Red List (low evidence)	CDC6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Meier-Gorlin syndrome 5, 613805 Tags
Red Red List (low evidence)	CDH15	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Mental retardation, autosomal dominant 3, 612580 Tags
Red Red List (low evidence)	CDK5RAP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Microcephaly 3, primary, autosomal recessive, 604804 Tags
Red Red List (low evidence)	CDKL5	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 BRIDGE Phenotypes Epileptic encephalopathy, early infantile, 2, 300672 Angelman syndrome-like, 105830 Tags
Red Red List (low evidence)	CDKN1C	1 review 1 green	Other - please specify in evaluation comments	Sources BRIDGE Phenotypes Beckwith-Wiedemann syndrome, 130650 IMAGE syndrome, 614732 Tags
Red Red List (low evidence)	CDON	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Holoprosencephaly 11, 614226 Tags
Red Red List (low evidence)	CDT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Meier-Gorlin syndrome 4, 613804 Tags
Red Red List (low evidence)	CENPJ	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Microcephaly 6, primary, autosomal recessive, 608393 Seckel syndrome 4, 613676 Tags
Red Red List (low evidence)	CEP152	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Microcephaly 9, primary, autosomal recessive, 614852 Seckel syndrome 5, 613823 Tags
Red Red List (low evidence)	CEP290	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Joubert syndrome 5, 610188 Senior-Loken syndrome 6, 610189 Leber congenital amaurosis 10, 611755 Meckel syndrome 4, 611134 ?Bardet-Biedl syndrome 14, 615991 Tags
Red Red List (low evidence)	CEP41	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Joubert syndrome 15, 614464 Tags
Red Red List (low evidence)	CEP57	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Mosaic variegated aneuploidy syndrome 2, 614114 Tags
Red Red List (low evidence)	CHAMP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Tags
Red Red List (low evidence)	CHD2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Epileptic encephalopathy, childhood-onset, 615369 Tags
Red Red List (low evidence)	CHD7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes CHARGE syndrome, 214800 {Scoliosis, idiopathic 3}, 608765 Hypogonadotropic hypogonadism 5 with or without anosmia, 612370 Tags
Red Red List (low evidence)	CHRNA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Epilepsy, nocturnal frontal lobe, type 4, 610353 Tags
Red Red List (low evidence)	CHRNA4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Epilepsy, nocturnal frontal lobe, 1, 600513 {Nicotine addiction, susceptibility to}, 188890 Tags
Red Red List (low evidence)	CHRNB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Epilepsy, nocturnal frontal lobe, 3, 605375 Tags
Red Red List (low evidence)	CHRNG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Myasthenia gravis, neonatal transient Escobar syndrome, 265000 Multiple pterygium syndrome, lethal type, 253290 Tags
Red Red List (low evidence)	CHST14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Ehlers-Danlos syndrome, musculocontractural type 1, 601776 Tags
Red Red List (low evidence)	CHST3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 Tags
Red Red List (low evidence)	CHUK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Cocoon syndrome, 613630 Tags
Red Red List (low evidence)	CIB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Deafness, autosomal recessive 48, 609439 Usher syndrome, type IJ, 614869 Tags
Red Red List (low evidence)	CISD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Wolfram syndrome 2, 604928 Tags
Red Red List (low evidence)	CKAP2L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Tags
Red Red List (low evidence)	CLCN2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Leukoencephalopathy with ataxia, 615651 {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628 {Epilepsy, juvenile absence, susceptibility to, 2}, 607628 {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 Leukoencephalopathy with ataxia, 615651 Tags
Red Red List (low evidence)	CLDN19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Hypomagnesemia 5, renal, with ocular involvement, 248190 Tags
Red Red List (low evidence)	CLN3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Tags
Red Red List (low evidence)	CLN5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Ceroid lipofuscinosis, neuronal, 5, 256731 Tags
Red Red List (low evidence)	CLN6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Ceroid lipofuscinosis, neuronal, 6, 601780 Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300 Tags
Red Red List (low evidence)	CLN8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Ceroid lipofuscinosis, neuronal, 8, 600143 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003 Tags
Red Red List (low evidence)	CLPB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Tags
Red Red List (low evidence)	CNTNAP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Cortical dysplasia-focal epilepsy syndrome, 610042 {Autism susceptibility 15}, 612100 Pitt-Hopkins like syndrome 1, 610042 Tags
Red Red List (low evidence)	COASY	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Neurodegeneration with brain iron accumulation 6, 615643 Tags
Red Red List (low evidence)	COG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Congenital disorder of glycosylation, type IIg, 611209 Tags
Red Red List (low evidence)	COG4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Congenital disorder of glycosylation, type IIj, 613489 Tags
Red Red List (low evidence)	COG7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Congenital disorder of glycosylation, type IIe, 608779 Tags
Red Red List (low evidence)	COG8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Congenital disorder of glycosylation, type IIh, 611182 Tags
Red Red List (low evidence)	COL11A2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Stickler syndrome, type III, 184840 Otospondylomegaepiphyseal dysplasia, 215150 Weissenbacher-Zweymuller syndrome, 277610 Deafness, autosomal dominant 13, 601868 Deafness, autosomal recessive 53, 609706 Fibrochondrogenesis 2, 614524 Tags
Red Red List (low evidence)	COL1A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Osteogenesis imperfecta, type I, 166200 OI type II, 166210 OI type III, 259420 OI type IV, 166220 Ehlers-Danlos syndrome, type I, 130000 Ehlers-Danlos syndrome, type VIIA, 130060 {Osteoporosis}, 166710 Caffey disease, 114000 [Bone mineral density variation QTL], 166710 Tags
Red Red List (low evidence)	COL2A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Stickler syndrome, type I, 108300 Kniest dysplasia, 156550 Achondrogenesis, type II or hypochondrogenesis, 200610 SED congenita, 183900 SMED Strudwick type, 184250 Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 Spondyloperipheral dysplasia, 271700 SED, Namaqualand type Osteoarthritis with mild chondrodysplasia, 604864 Vitreoretinopathy with phalangeal epiphyseal dysplasia Platyspondylic skeletal dysplasia, Torrance type, 151210 Otospondylomegaepiphyseal dysplasia, 215150 Avascular necrosis of the femoral head, 608805 Legg-Calve-Perthes disease, 150600 Stickler sydrome, type I, nonsyndromic ocular, 609508 Czech dysplasia, 609162 Tags
Red Red List (low evidence)	COL4A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Porencephaly 1, 175780 Brain small vessel disease with or without ocular anomalies, 607595 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 {Hemorrhage, intracerebral, susceptibility to}, 614519 Tags
Red Red List (low evidence)	COL4A2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Porencephaly 2, 614483 {Hemorrhage, intracerebral, susceptibility to}, 614519 Tags
Red Red List (low evidence)	COL4A3BP	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Intellectual Disability Tags new-gene-name
Red Red List (low evidence)	COL9A3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Epiphyseal dysplasia, multiple, 3, 600969 Epiphyseal dysplasia, multiple, with myopathy {Intervertebral disc disease, susceptibility to}, 603932 Tags
Red Red List (low evidence)	COLEC11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes 3MC syndrome 2, 265050 Tags
Red Red List (low evidence)	COQ2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Coenzyme Q10 deficiency, primary, 1, 607426 {Multiple system atrophy, susceptibility to}, 146500 Tags
Red Red List (low evidence)	COQ8A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Coenzyme Q10 deficiency, primary, 4, 612016 Tags
Red Red List (low evidence)	COQ9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Coenzyme Q10 deficiency, primary, 5, 614654 Tags
Red Red List (low evidence)	COX10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Mitochondrial complex IV deficiency, 220110 Leigh syndrome due to mitochondrial COX4 deficiency, 256000 Tags
Red Red List (low evidence)	COX15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Leigh syndrome due to cytochrome c oxidase deficiency, 256000 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 Tags
Red Red List (low evidence)	COX6B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes ?Mitochondrial complex IV deficiency, 220110 Tags
Red Red List (low evidence)	COX7B	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 BRIDGE Phenotypes Aplasia cutis congenita, reticulolinear, with mmicrocephaly, facial dysmorphism and other congenital anomalies, 300887 Mitochondrial complex IV deficiency Tags
Red Red List (low evidence)	CP	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes [Hypoceruloplasminemia, hereditary], 604290 Cerebellar ataxia, 604290 Hemosiderosis, systemic, due to aceruloplasminemia, 604290 Tags
Red Red List (low evidence)	CPA6	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Epilepsy, familial temporal lobe, 5, 614417 Febrile seizures, familial, 11, 614418 Tags
Red Red List (low evidence)	CPS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Carbamoylphosphate synthetase I deficiency, 237300 {Pulmonary hypertension, neonatal, susceptibility to}, 615371 {Venoocclusive disease after bone marrow transplantation} Tags
Red Red List (low evidence)	CRB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Retinitis pigmentosa-12, autosomal recessive, 600105 Leber congenital amaurosis 8, 613835 Pigmented paravenous chorioretinal atrophy, 172870 Tags
Red Red List (low evidence)	CRB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Tags
Red Red List (low evidence)	CREBBP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Rubinstein-Taybi syndrome, 180849 Tags
Red Red List (low evidence)	CSF1R	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 Tags
Red Red List (low evidence)	CSPP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Joubert syndrome 21, 615636 Tags
Red Red List (low evidence)	CSTB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 Tags
Red Red List (low evidence)	CTC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Cerebroretinal microangiopathy with calcifications and cysts, 612199 Tags
Red Red List (low evidence)	CTCF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Mental retardation, autosomal dominant 21, 615502 Tags
Red Red List (low evidence)	CTDP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Congenital cataracts, facial dysmorphism, and neuropathy, 604168 Tags
Red Red List (low evidence)	CTNNB1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Mental retardation, autosomal dominant 19, 615075 Colorectal cancer, somatic, 114500 Pilomatricoma, somatic, 132600 Ovarian cancer, somatic, 167000 Hepatocellular carcinoma, somatic, 114550 Tags
Red Red List (low evidence)	CTNS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Cystinosis, nephropathic, 219800 Cystinosis, ocular nonnephropathic, 219750 Cystinosis, late-onset juvenile or adolescent nephropathic, 219900 Cystinosis, atypical nephropathic, 219800 Tags
Red Red List (low evidence)	CTSA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Galactosialidosis, 256540 Tags
Red Red List (low evidence)	CTSD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Ceroid lipofuscinosis, neuronal, 10, 610127 Tags
Red Red List (low evidence)	CUL4B	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354 Tags
Red Red List (low evidence)	CUL7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes 3-M syndrome 1, 273750 Tags
Red Red List (low evidence)	CYC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Mitochondrial complex III deficiency, nuclear type 6, 615453 Tags
Red Red List (low evidence)	CYP27A1	1 review 1 green	Other - please specify in evaluation comments	Sources BRIDGE Phenotypes Cerebrotendinous xanthomatosis, 213700 Tags
Red Red List (low evidence)	CYP2U1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Spastic paraplegia 56, autosomal recessive, 615030 Tags
Red Red List (low evidence)	CYP7B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Bile acid synthesis defect, congenital, 3, 613812 Spastic paraplegia 5A, autosomal recessive, 270800 Tags
Red Red List (low evidence)	DAG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818 Tags
Red Red List (low evidence)	DARS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 Tags new-gene-name
Red Red List (low evidence)	DARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 Tags
Red Red List (low evidence)	DBT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Maple syrup urine disease, type II, 248600 Tags
Red Red List (low evidence)	DCHS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Van Maldergem syndrome 1, 601390 Tags
Red Red List (low evidence)	DCTN1	1 review 1 green	Other - please specify in evaluation comments	Sources BRIDGE Phenotypes Neuropathy, distal hereditary motor, type VIIB, 607641 {Amyotrophic lateral sclerosis, susceptibility to}, 105400 Perry syndrome, 168605 Tags
Red Red List (low evidence)	DCX	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 BRIDGE Phenotypes Lissencephaly, X-linked, 300067 Subcortical laminal heteropia, X-linked, 300067 Tags
Red Red List (low evidence)	DDC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Aromatic L-amino acid decarboxylase deficiency, 608643 Tags
Red Red List (low evidence)	DDHD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Spastic paraplegia 28, autosomal recessive, 609340 Tags
Red Red List (low evidence)	DDHD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Spastic paraplegia 54, autosomal recessive, 615033 Tags
Red Red List (low evidence)	DDOST	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes ?Congenital disorder of glycosylation, type Ir, 614507 Tags
Red Red List (low evidence)	DDR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Spondylometaepiphyseal dysplasia, short limb-hand type, 271665 Tags
Red Red List (low evidence)	DDX11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Warsaw breakage syndrome, 613398 Tags
Red Red List (low evidence)	DDX3X	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Intellectual diability Tags
Red Red List (low evidence)	DEAF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Mental retardation, autosomal dominant 24, 615828 Tags
Red Red List (low evidence)	DEPDC5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Epilepsy, familial focal, with variable foci, 604364 Tags
Red Red List (low evidence)	DHCR24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Desmosterolosis, 602398 Tags
Red Red List (low evidence)	DHCR7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Smith-Lemli-Opitz syndrome, 270400 Tags
Red Red List (low evidence)	DHFR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 Tags
Red Red List (low evidence)	DIS3L2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Perlman syndrome, 267000 Tags
Red Red List (low evidence)	DKC1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Dyskeratosis congenita, X-linked, 305000 Tags
Red Red List (low evidence)	DLAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Pyruvate dehydrogenase E2 deficiency, 245348 Tags
Red Red List (low evidence)	DLD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Dihydrolipoamide dehydrogenase deficiency, 246900 Tags
Red Red List (low evidence)	DLG3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Mental retardation, X-linked 90, 300850 Tags
Red Red List (low evidence)	DMD	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Duchenne muscular dystrophy, 310200 Becker muscular dystrophy, 300376 Cardiomyopathy, dilated, 3B, 302045 Tags
Red Red List (low evidence)	DMP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Hypophosphatemic rickets, AR, 241520 Tags
Red Red List (low evidence)	DMPK	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Myotonic dystrophy 1, 160900 Tags
Red Red List (low evidence)	DNM2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Charcot-Marie-Tooth disease, dominant intermediate B, 606482 Myopathy, centronuclear, 160150 Charcot-Marie-Tooth disease, axonal, type 2M, 606482 Lethal congenital contracture syndrome 5, 615368 Tags
Red Red List (low evidence)	DNMT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Neuropathy, hereditary sensory, type IE, 614116 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121 Tags
Red Red List (low evidence)	DNMT3A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Tatton-Brown-Rahman syndrome, 615879 Tags
Red Red List (low evidence)	DNMT3B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 Tags
Red Red List (low evidence)	DOCK8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Mental retardation, autosomal dominant 2, 614113 Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 Tags
Red Red List (low evidence)	DOLK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Congenital disorder of glycosylation, type Im, 610768 Tags
Red Red List (low evidence)	DPAGT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Congenital disorder of glycosylation, type Ij, 608093 Myasthenic syndrome, congenital, with tubular aggregates 2, 614750 Tags
Red Red List (low evidence)	DPM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Congenital disorder of glycosylation, type Ie, 608799 Tags
Red Red List (low evidence)	DRD2	1 review 1 green	Unknown	Sources BRIDGE Phenotypes Dystonia, myoclonic, 159900 Tags
Red Red List (low evidence)	DYM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Dyggve-Melchior-Clausen disease, 223800 Smith-McCort dysplasia, 607326 Tags
Red Red List (low evidence)	DYNC1H1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Charcot-Marie-Tooth disease, axonal, type 20, 614228 Mental retardation, autosomal dominant 13, 614563 Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600 Tags
Red Red List (low evidence)	DYRK1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Mental retardation, autosomal dominant 7, 614104 Tags
Red Red List (low evidence)	EBP	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 BRIDGE Phenotypes Chondrodysplasia punctata, X-linked dominant, 302960 Tags
Red Red List (low evidence)	EDNRB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes {Hirschsprung disease, susceptibility to, 2}, 600155 ABCD syndrome, 600501 Waardenburg syndrome, type 4A, 277580 Tags
Red Red List (low evidence)	EFHC1	1 review 1 green	Unknown	Sources BRIDGE Phenotypes {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 {Epilepsy, juvenile absence, susceptibility to, 1}, 607631 Tags
Red Red List (low evidence)	EFNB1	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 BRIDGE Phenotypes Craniofrontonasal dysplasia, 304110 Tags
Red Red List (low evidence)	EFTUD2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Mandibulofacial dysostosis, Guion-Almeida type, 610536 Tags
Red Red List (low evidence)	EGR2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Neuropathy, congenital hypomyelinating, 1, 605253 Charcot-Marie-Tooth disease, type 1D, 607678 Dejerine-Sottas disease, 145900 Tags
Red Red List (low evidence)	EHMT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Kleefstra syndrome, 610253 Tags
Red Red List (low evidence)	EIF2AK3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Wolcott-Rallison syndrome, 226980 Tags
Red Red List (low evidence)	EIF4G1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Parkinson disease 18, 614251 Tags
Red Red List (low evidence)	ELAC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes {Prostate cancer, hereditary, 2, susceptibility to}, 614731 Combined oxidative phosphorylation deficiency 17, 615440 Tags
Red Red List (low evidence)	ELOVL4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Stargardt disease 3, 600110 Ichthyosis, spastic quadriplegia, and mental retardation, 614457 ?Spinocerebellar ataxia 34, 133190 Tags
Red Red List (low evidence)	ELOVL5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Spinocerebellar ataxia 38, 615957 Tags
Red Red List (low evidence)	EP300	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Rubinstein-Taybi syndrome 2, 613684 Colorectal cancer, somatic, 114500 Tags
Red Red List (low evidence)	EPG5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Vici syndrome, 242840 Tags
Red Red List (low evidence)	EPM2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Epilepsy, progressive myoclonic 2A (Lafora), 254780 Tags
Red Red List (low evidence)	ERCC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Cerebrooculofacioskeletal syndrome 4, 610758 Tags
Red Red List (low evidence)	ERCC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Xeroderma pigmentosum, group D, 278730 Trichothiodystrophy, 601675 Cerebrooculofacioskeletal syndrome 2, 610756 Tags
Red Red List (low evidence)	ERCC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Xeroderma pigmentosum, group B, 610651 Trichothiodystrophy, 601675 Tags
Red Red List (low evidence)	ERCC4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Xeroderma pigmentosum, group F, 278760 XFE progeroid syndrome, 610965 Fanconi anemia, complementation group Q, 615272 Xeroderma pigmentosum, type F/Cockayne syndrome, 278760 Tags
Red Red List (low evidence)	ERCC5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Xeroderma pigmentosum, group G, 278780 Xeroderma pigmentosum, group G/Cockayne syndrome, 278780 Tags
Red Red List (low evidence)	ERCC6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Cockayne syndrome, type B, 133540 Cerebrooculofacioskeletal syndrome 1, 214150 De Sanctis-Cacchione syndrome, 278800 {Macular degeneration, age-related, susceptibility to 5}, 613761 UV-sensitive syndrome 1, 600630 {Lung cancer, susceptibility to}, 211980 Tags
Red Red List (low evidence)	ERCC6L2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Tags
Red Red List (low evidence)	ERCC8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Cockayne syndrome, type A, 216400 UV-sensitive syndrome 2, 614621 Tags
Red Red List (low evidence)	ERLIN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Spastic paraplegia 18, autosomal recessive, 611225 Tags
Red Red List (low evidence)	ESCO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Roberts syndrome, 268300 SC phocomelia syndrome, 269000 Tags
Red Red List (low evidence)	ETFA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Glutaric acidemia IIA, 231680 Tags
Red Red List (low evidence)	ETFB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Glutaric acidemia IIB, 231680 Tags
Red Red List (low evidence)	ETFDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Glutaric acidemia IIC, 231680 Tags
Red Red List (low evidence)	ETHE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Ethylmalonic encephalopathy, 602473 Tags
Red Red List (low evidence)	EVC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Ellis-van Creveld syndrome, 225500 Weyers acrodental dysostosis, 193530 Tags
Red Red List (low evidence)	EVC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Ellis-van Creveld syndrome, 225500 Tags
Red Red List (low evidence)	EXOSC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Pontocerebellar hypoplasia, type 1B, 614678 Tags
Red Red List (low evidence)	EXT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Exostoses, multiple, type 1, 133700 Chondrosarcoma, 215300 Tags
Red Red List (low evidence)	EYA1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Branchiootorenal syndrome 1, with or without cataracts, 113650 Anterior segment anomalies with or without cataract, 113650 Branchiootic syndrome 1, 602588 ?Otofaciocervical syndrome, 166780 Tags
Red Red List (low evidence)	EZH2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Weaver syndrome, 277590 Tags
Red Red List (low evidence)	FA2H	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Spastic paraplegia 35, autosomal recessive, 612319 Tags
Red Red List (low evidence)	FAH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Tyrosinemia, type I, 276700 Tags
Red Red List (low evidence)	FAM111A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Kenny-Caffey syndrome, type 2, 127000 Gracile bone dysplasia, 602361 Tags
Red Red List (low evidence)	FAM111B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, 615704 Tags
Red Red List (low evidence)	FAM126A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Leukodystrophy, hypomyelinating, 5, 610532 Tags
Red Red List (low evidence)	FAM20C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Raine syndrome, 259775 Tags
Red Red List (low evidence)	FANCA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Fanconi anemia, complementation group A, 227650 Tags
Red Red List (low evidence)	FANCC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Fanconi anemia, complementation group C, 227645 Tags
Red Red List (low evidence)	FANCD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Fanconi anemia, complementation group D2, 227646 Tags
Red Red List (low evidence)	FANCE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Fanconi anemia, complementation group E, 600901 Tags
Red Red List (low evidence)	FAR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Tags
Red Red List (low evidence)	FAT4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Van Maldergem syndrome 2, 615546 Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 Tags
Red Red List (low evidence)	FBN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Marfan syndrome, 154700 Ectopia lentis, familial, 129600 MASS syndrome, 604308 Weill-Marchesani syndrome 2, dominant, 608328 Aortic aneurysm, ascending, and dissection Stiff skin syndrome, 184900 Acromicric dysplasia, 102370 Geleophysic dysplasia 2, 614185 Tags
Red Red List (low evidence)	FBN2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Contractural arachnodactyly, congenital, 121050 Macular degeneration, early-onset, 616118 Tags
Red Red List (low evidence)	FBP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Fructose-1,6-bisphosphatase deficiency, 229700 Tags
Red Red List (low evidence)	FBXL4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 Tags
Red Red List (low evidence)	FBXO7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Parkinson disease 15, autosomal recessive, 260300 Tags
Red Red List (low evidence)	FGD1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Aarskog-Scott syndrome, 305400 Mental retardation, X-linked syndromic 16, 305400 Tags
Red Red List (low evidence)	FGD4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Charcot-Marie-Tooth disease, type 4H, 609311 Tags
Red Red List (low evidence)	FGF14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Spinocerebellar ataxia 27, 609307 Tags
Red Red List (low evidence)	FGF3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Deafness, congenital with inner ear agenesis, microtia, and microdontia, 610706 Tags
Red Red List (low evidence)	FGFR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Pfeiffer syndrome, 101600 Jackson-Weiss syndrome, 123150 Hypogonadotropic hypogonadism 2 with or without anosmia, 147950 Osteoglophonic dysplasia, 166250 Trigonocephaly 1, 190440 Hartsfield syndrome, 615465 Tags
Red Red List (low evidence)	FGFR2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Crouzon syndrome, 123500 Jackson-Weiss syndrome, 123150 Beare-Stevenson cutis gyrata syndrome, 123790 Pfeiffer syndrome, 101600 Apert syndrome, 101200 Saethre-Chotzen syndrome, 101400 Craniosynostosis, nonspecific Gastric cancer, somatic, 613659 Craniofacial-skeletal-dermatologic dysplasia, 101600 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410 Scaphocephaly and Axenfeld-Rieger anomaly LADD syndrome, 149730 Scaphocephaly, maxillary retrusion, and mental retardation, 609579 Bent bone dysplasia syndrome, 614592 Tags
Red Red List (low evidence)	FGFR3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Achondroplasia, 100800 Hypochondroplasia, 146000 Thanatophoric dysplasia, type I, 187600 Crouzon syndrome with acanthosis nigricans, 612247 Muenke syndrome, 602849 Bladder cancer, somatic, 109800 Colorectal cancer, somatic, 114500 Cervical cancer, somatic, 603956 LADD syndrome, 149730 CATSHL syndrome, 610474 Nevus, epidermal, somatic, 162900 Thanatophoric dysplasia, type II, 187601 Spermatocytic seminoma, somatic, 273300 Tags
Red Red List (low evidence)	FH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Fumarase deficiency, 606812 Leiomyomatosis and renal cell cancer, 150800 Tags
Red Red List (low evidence)	FHL1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Scapuloperoneal myopathy, X-linked dominant, 300695 Myopathy, X-linked, with postural muscle atrophy, 300696 Myopathy, reducing body, X-linked, severe early-onset, 300717 Myopathy, reducing body, X-linked, childhood-onset, 300718 Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 Tags
Red Red List (low evidence)	FIG4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Charcot-Marie-Tooth disease, type 4J, 611228 Amyotrophic lateral sclerosis 11, 612577 Yunis-Varon syndrome, 216340 ?Polymicrogyria, bilateral temporooccipital, 612691 Tags
Red Red List (low evidence)	FKBP14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557 Tags
Red Red List (low evidence)	FKRP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, 606612 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155 Tags
Red Red List (low evidence)	FKTN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, 613152 Cardiomyopathy, dilated, 1X, 611615 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588 Tags
Red Red List (low evidence)	FLNA	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 BRIDGE Phenotypes Heterotopia, periventricular, 300049 Otopalatodigital syndrome, type I, 311300 Otopalatodigital syndrome, type II, 304120 Intestinal pseudoobstruction, neuronal, 300048 Melnick-Needles syndrome, 309350 Frontometaphyseal dysplasia, 305620 Heterotopia, periventricular, ED variant, 300537 FG syndrome 2, 300321 Cardiac valvular dysplasia, X-linked, 314400 Terminal osseous dysplasia, 300244 Congenital short bowel syndrome, 300048 Tags
Red Red List (low evidence)	FLNB	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Spondylocarpotarsal synostosis syndrome, 272460 Larsen syndrome, 150250 Atelosteogenesis, type I, 108720 Atelosteogenesis, type III, 108721 Boomerang dysplasia, 112310 Tags
Red Red List (low evidence)	FLVCR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Ataxia, posterior column, with retinitis pigmentosa, 609033 Tags
Red Red List (low evidence)	FLVCR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, 225790 Tags
Red Red List (low evidence)	FMR1	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 BRIDGE Phenotypes Fragile X syndrome, 300624 Fragile X tremor/ataxia syndrome, 300623 Premature ovarian failure 1, 311360 Tags
Red Red List (low evidence)	FOLR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Neurodegeneration due to cerebral folate transport deficiency, 613068 Tags
Red Red List (low evidence)	FOXG1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Rett syndrome, congenital variant, 613454 Tags
Red Red List (low evidence)	FOXP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Mental retardation with language impairment and autistic features, 613670 Tags
Red Red List (low evidence)	FOXP3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 {Diabetes mellitus, type I, susceptibility to}, 222100 Tags
Red Red List (low evidence)	FOXRED1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000 Mitochondrial complex I deficiency, 252010 Tags
Red Red List (low evidence)	FRAS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Fraser syndrome, 219000 Tags
Red Red List (low evidence)	FREM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Bifid nose with or without anorectal and renal anomalies, 608980 Manitoba oculotrichoanal syndrome, 248450 Trigonocephaly 2, 614485 Tags
Red Red List (low evidence)	FREM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Fraser syndrome, 219000 Tags
Red Red List (low evidence)	FRMD7	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Nystagmus 1, congenital, X-linked, 310700 Nystagmus, infantile periodic alternating, X-linked, 310700 Tags
Red Red List (low evidence)	FTCD	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Glutamate formiminotransferase deficiency, 229100 Tags ngs-false-positive-region
Red Red List (low evidence)	FTL	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Hyperferritinemia-cataract syndrome, 600886 Neurodegeneration with brain iron accumulation 3, 606159 L-ferritin deficiency, dominant and recessive, 615604 Tags
Red Red List (low evidence)	FTSJ1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Mental retardation, X-linked 9, 309549 Tags
Red Red List (low evidence)	FUCA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Fucosidosis, 230000 Tags
Red Red List (low evidence)	FXN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Friedreich ataxia, 229300 Friedreich ataxia with retained reflexes, 229300 Tags
Red Red List (low evidence)	GAA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Glycogen storage disease II, 232300 Tags
Red Red List (low evidence)	GABRA1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes {Epilepsy, juvenile myoclonic, susceptibility to, 5}, 611136 {Epilepsy, childhood absence, susceptibility to, 4}, 611136 Epileptic encephalopathy, early infantile, 19, 615744 Tags
Red Red List (low evidence)	GABRB3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes {Epilepsy, childhood absence, susceptibility to, 5}, 612269 Tags
Red Red List (low evidence)	GABRG2	1 review 1 green	Unknown	Sources BRIDGE Phenotypes Epilepsy, generalized, with febrile seizures plus, type 3, 611277 {Epilepsy, childhood absence, susceptibility to, 2}, 607681 Febrile seizures, familial, 8, 611277 Tags
Red Red List (low evidence)	GAD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Cerebral palsy, spastic quadriplegic, 1, 603513 Tags
Red Red List (low evidence)	GALC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Krabbe disease, 245200 Tags
Red Red List (low evidence)	GALE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Galactose epimerase deficiency, 230350 Tags
Red Red List (low evidence)	GALK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Galactokinase deficiency with cataracts, 230200 Tags
Red Red List (low evidence)	GALNS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Mucopolysaccharidosis IVA, 253000 Tags
Red Red List (low evidence)	GALT	1 review 1 green	Unknown	Sources BRIDGE Phenotypes Galactosemia, 230400 Tags
Red Red List (low evidence)	GAMT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Cerebral creatine deficiency syndrome 2, 612736 Tags
Red Red List (low evidence)	GATA6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Atrioventricular septal defect 5, 614474 Atrial septal defect 9, 614475 Pancreatic agenesis and congenital heart defects, 600001 Persistent truncus arteriosus, 217095 Tetralogy of Fallot, 187500 Tags
Red Red List (low evidence)	GATM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Cerebral creatine deficiency syndrome 3, 612718 Tags
Red Red List (low evidence)	GBA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Gaucher disease, type I, 230800(3) Gaucher disease, type II, 230900 Gaucher disease, type III, 231000 Gaucher disease, type IIIC, 231005 Gaucher disease, perinatal lethal, 608013 {Parkinson disease, late-onset, susceptibility to}, 168600 {Lewy body dementia, susceptibility to}, 127750 Tags
Red Red List (low evidence)	GBA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Spastic paraplegia 46, autosomal recessive, 614409 Tags
Red Red List (low evidence)	GCDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Glutaricaciduria, type I, 231670 Tags
Red Red List (low evidence)	GCH1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 Hyperphenylalaninemia, BH4-deficient, B, 233910 Tags
Red Red List (low evidence)	GDAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Charcot-Marie-Tooth disease, type 4A, 214400 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706 Charcot-Marie-Tooth disease, axonal, type 2K, 607831 Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 Tags
Red Red List (low evidence)	GDI1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Mental retardation, X-linked 41, 300849 Tags
Red Red List (low evidence)	GFAP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Alexander disease, 203450 Tags
Red Red List (low evidence)	GFM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Combined oxidative phosphorylation deficiency 1, 609060 Tags
Red Red List (low evidence)	GHR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Laron dwarfism, 262500 Short stature, 604271 {Hypercholesterolemia, familial, modifier of}, 143890 Increased responsiveness to growth hormone Tags
Red Red List (low evidence)	GJA1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Oculodentodigital dysplasia, 164200 Syndactyly, type III, 186100 Hypoplastic left heart syndrome 1, 241550 Atrioventricular septal defect 3, 600309 Oculodentodigital dysplasia, autosomal recessive, 257850 Craniometaphyseal dysplasia, autosomal recessive, 218400 Tags
Red Red List (low evidence)	GJB1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800 Tags
Red Red List (low evidence)	GJC2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Leukodystrophy, hypomyelinating, 2, 608804 Spastic paraplegia 44, autosomal recessive, 613206 Lymphedema, hereditary, IC, 613480 Tags
Red Red List (low evidence)	GK	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Glycerol kinase deficiency, 307030 Tags
Red Red List (low evidence)	GLB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes GM1-gangliosidosis, type I, 230500 GM1-gangliosidosis, type II, 230600 GM1-gangliosidosis, type III, 230650 Mucopolysaccharidosis type IVB (Morquio), 253010 Tags
Red Red List (low evidence)	GLDC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Glycine encephalopathy, 605899 Tags
Red Red List (low evidence)	GLE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Lethal congenital contracture syndrome 1, 253310 Arthrogryposis, lethal, with anterior horn cell disease, 611890 Tags
Red Red List (low evidence)	GLI2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Holoprosencephaly-9, 610829 Culler-Jones syndrome, 615849 Tags
Red Red List (low evidence)	GLI3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Greig cephalopolysyndactyly syndrome, 175700 Pallister-Hall syndrome, 146510 Polydactyly, preaxial, type IV, 174700 Polydactyly, postaxial, types A1 and B, 174200 {Hypothalamic hamartomas, somatic}, 241800 Tags
Red Red List (low evidence)	GLIS3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 Tags
Red Red List (low evidence)	GLUD1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Hyperinsulinism-hyperammonemia syndrome, 606762 Tags
Red Red List (low evidence)	GLUL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Glutamine deficiency, congenital, 610015 Tags
Red Red List (low evidence)	GM2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes GM2-gangliosidosis, AB variant, 272750 Tags
Red Red List (low evidence)	GMPPA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Alacrima, achalasia, and mental retardation syndrome, 615510 Tags
Red Red List (low evidence)	GMPPB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, 615350 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, 615351 Tags
Red Red List (low evidence)	GNAL	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Dystonia 25, 615073 Tags
Red Red List (low evidence)	GNAO1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Epileptic encephalopathy, early infantile, 17, 615473 Tags
Red Red List (low evidence)	GNAS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Pseudohypoparathyroidism Ia, 103580 McCune-Albright syndrome, somatic, mosaic 174800 Pseudohypoparathyroidism Ic, 612462 Osseous heteroplasia, progressive, 166350 Pseudohypoparathyroidism Ib, 603233 Acromegaly, somatic, 102200 Pseudopseudohypoparathyroidism, 612463 ACTH-independent macronodular adrenal hyperplasia, 219080 Tags
Red Red List (low evidence)	GNPAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Chondrodysplasia punctata, rhizomelic, type 2, 222765 Tags
Red Red List (low evidence)	GNPTAB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Mucolipidosis III alpha/beta, 252600 Mucolipidosis II alpha/beta, 252500 Tags
Red Red List (low evidence)	GNPTG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Mucolipidosis III gamma, 252605 Tags
Red Red List (low evidence)	GNS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Mucopolysaccharidosis type IIID, 252940 Tags
Red Red List (low evidence)	GOSR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Epilepsy, progressive myoclonic 6, 614018 Tags
Red Red List (low evidence)	GPSM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Chudley-McCullough syndrome, 604213 Tags
Red Red List (low evidence)	GRIA3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Mental retardation, X-linked 94, 300699 Tags
Red Red List (low evidence)	GRID2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Spinocerebellar ataxia, atuosomal recessive 18, 616204 Tags
Red Red List (low evidence)	GRIK2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Mental retardation, autosomal recessive, 6, 611092 Tags
Red Red List (low evidence)	GRIN2A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Epilepsy, focal, with speech disorder and with or without mental retardation, 245570 Tags
Red Red List (low evidence)	GRIN2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Mental retardation, autosomal dominant 6, 613970 Epileptic encephalopathy, early infantile, 27, 616139 Tags
Red Red List (low evidence)	GRM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Spinocerebellar ataxia, autosomal recessive 13, 614831 Tags
Red Red List (low evidence)	GRN	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485 Aphasia, primary progressive, 607485 Ceroid lipofuscinosis, neuronal, 11, 614706 Tags
Red Red List (low evidence)	GTF2H5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Trichothiodystrophy, complementation group A, 601675 Tags
Red Red List (low evidence)	GTPBP3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Tags
Red Red List (low evidence)	GUSB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Mucopolysaccharidosis VII, 253220 Tags
Red Red List (low evidence)	HADH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 Hyperinsulinemic hypoglycemia, familial, 4, 609975 Tags
Red Red List (low evidence)	HADHA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes LCHAD deficiency, 609016 Trifunctional protein deficiency, 609015 HELLP syndrome, maternal, of pregnancy, 609016 Fatty liver, acute, of pregnancy, 609016 Tags
Red Red List (low evidence)	HAX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Neutropenia, severe congenital 3, autosomal recessive, 610738 Tags
Red Red List (low evidence)	HCCS	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 BRIDGE Phenotypes Microphthalmia, syndromic 7, 309801 Tags
Red Red List (low evidence)	HCFC1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 Tags
Red Red List (low evidence)	HCN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Epileptic encephalopathy, early infantile, 24, 615871 Tags
Red Red List (low evidence)	HDAC4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Brachydactyly-mental retardation syndrome, 600430 Tags
Red Red List (low evidence)	HDAC8	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 BRIDGE Phenotypes Wilson-Turner syndrome, 309585 Cornelia de Lange syndrome 5, 300882 Tags
Red Red List (low evidence)	HEXA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Tay-Sachs disease, 272800 GM2-gangliosidosis, several forms, 272800 [Hex A pseudodeficiency], 272800 Tags
Red Red List (low evidence)	HEXB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, 268800 Tags
Red Red List (low evidence)	HGSNAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 Tags
Red Red List (low evidence)	HIBCH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 Tags
Red Red List (low evidence)	HINT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Neuromyotonia and axonal neuropathy, autosomal recessive, 137200 Tags
Red Red List (low evidence)	HK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Hemolytic anemia due to hexokinase deficiency, 235700 Neuropathy, hereditary motor and sensory, Russe type, 605285 Tags
Red Red List (low evidence)	HLCS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Holocarboxylase synthetase deficiency, 253270 Tags
Red Red List (low evidence)	HMGCL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes HMG-CoA lyase deficiency, 246450 Tags
Red Red List (low evidence)	HMGCS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes HMG-CoA synthase-2 deficiency, 605911 Tags
Red Red List (low evidence)	HNF1B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Renal cysts and diabetes syndrome, 137920 Diabetes mellitus, noninsulin-dependent, 125853 {Renal cell carcinoma}, 144700 Tags
Red Red List (low evidence)	HNF4A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes MODY, type I, 125850 {Diabetes mellitus, noninsulin-dependent}, 125853 Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, 616026 Tags
Red Red List (low evidence)	HNRNPU	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Tags
Red Red List (low evidence)	HOXA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Bosley-Salih-Alorainy syndrome, 601536 Athabaskan brainstem dysgenesis syndrome, 601536 Tags
Red Red List (low evidence)	HPRT1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Lesch-Nyhan syndrome, 300322 HPRT-related gout, 300323 Tags
Red Red List (low evidence)	HRAS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes {Bladder cancer, somatic}, 109800 Costello syndrome, 218040 {Thyroid carcinoma, follicular, somatic}, 188470 Congenital myopathy with excess of muscle spindles, 218040 {Nevus sebaceous, somatic}, 162900 Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 Tags
Red Red List (low evidence)	HSD17B10	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes 17-beta-hydroxysteroid dehydrogenase X deficiency, 300438 ?Mental retardation, X-linked syndromic 10, 300220 Tags
Red Red List (low evidence)	HSD17B4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes D-bifunctional protein deficiency, 261515 Perrault syndrome 1, 233400 Tags
Red Red List (low evidence)	HSD3B7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Bile acid synthesis defect, congenital, 1, 607765 Tags
Red Red List (low evidence)	HSPD1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Spastic paraplegia 13, autosomal dominant, 605280 Leukodystrophy, hypomyelinating, 4, 612233 Tags
Red Red List (low evidence)	HSPG2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Schwartz-Jampel syndrome, type 1, 255800 Dyssegmental dysplasia, Silverman-Handmaker type, 224410 Tags
Red Red List (low evidence)	HTT	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Huntington disease, 143100 Tags
Red Red List (low evidence)	HUWE1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Mental retardation, X-linked syndromic, Turner type, 300706 Tags
Red Red List (low evidence)	HYAL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Mucopolysaccharidosis type IX, 601492 Tags
Red Red List (low evidence)	HYLS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Hydrolethalus syndrome, 236680 Tags
Red Red List (low evidence)	IDS	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Mucopolysaccharidosis II, 309900 Tags
Red Red List (low evidence)	IDUA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Mucopolysaccharidosis Ih, 607014 Mucopolysaccharidosis Is, 607016 Mucopolysaccharidosis Ih/s, 607015 Tags
Red Red List (low evidence)	IER3IP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Microcephaly, epilepsy, and diabetes syndrome, 614231 Tags
Red Red List (low evidence)	IFIH1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Aicardi-Goutieres syndrome 7, 615846 Tags
Red Red List (low evidence)	IFT140	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 Tags
Red Red List (low evidence)	IFT172	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Short-rib thoracic dysplasia 10 with or without polydactyly, 615630 Tags
Red Red List (low evidence)	IGF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747 Tags
Red Red List (low evidence)	IGF1R	1 review 1 green	Other - please specify in evaluation comments	Sources BRIDGE Phenotypes Insulin-like growth factor I, resistance to, 270450 Tags
Red Red List (low evidence)	IGF2	1 review 1 green	Other - please specify in evaluation comments	Sources BRIDGE Phenotypes Beckwith-Wiedemann Syndrome Chromosome 11p15.5-Related Russell-Silver Syndrome Tags
Red Red List (low evidence)	IGHMBP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Neuronopathy, distal hereditary motor, type VI, 604320 Charcot-Marie-Tooth disease, axonal, type 2S, 616155 Tags
Red Red List (low evidence)	IGSF1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Hypothyroidism, central, and testicular enlargement, 300888 Tags
Red Red List (low evidence)	IKBKG	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 BRIDGE Phenotypes Incontinentia pigmenti, type II, 308300 Ectodermal dysplasia, hypohidrotic, with immune deficiency, 300291 Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 Immunodeficiency, isolated, 300584 Immunodeficiency 33, 300636 Invasive pneumococcal disease, recurrent isolated, 2, 300640 Tags
Red Red List (low evidence)	IL1RAPL1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Mental retardation, X-linked 21/34, 300143 Tags
Red Red List (low evidence)	INPP5E	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 Joubert syndrome 1, 213300 Tags
Red Red List (low evidence)	IQSEC2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Mental retardation, X-linked 1, 309530 Tags
Red Red List (low evidence)	ISPD	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052 Tags new-gene-name
Red Red List (low evidence)	ITGA7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204 Tags
Red Red List (low evidence)	ITPR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Spinocerebellar ataxia 15, 606658 Spinocerebellar ataxia 29, congenital nonprogressive, 117360 Tags
Red Red List (low evidence)	IVD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Isovaleric acidemia, 243500 Tags
Red Red List (low evidence)	KANSL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Koolen-De Vries syndrome, 610443 Tags
Red Red List (low evidence)	KARS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 Deafness, autosomal recessive 89, 613916 Tags new-gene-name
Red Red List (low evidence)	KAT6A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Tags
Red Red List (low evidence)	KAT6B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes SBBYSS syndrome, 603736 Genitopatellar syndrome, 606170 Tags
Red Red List (low evidence)	KBTBD13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Nemaline myopathy 6, autosomal dominant, 609273 Tags
Red Red List (low evidence)	KCNA1	1 review 1 green	Unknown	Sources BRIDGE Phenotypes Episodic ataxia/myokymia syndrome, 160120 Tags
Red Red List (low evidence)	KCNA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Tags
Red Red List (low evidence)	KCNB1	1 review 1 green	Unknown	Sources BRIDGE Phenotypes Epileptic encephalopathy, early infantile, 26, 616056 Tags
Red Red List (low evidence)	KCNC1	1 review 1 green	Unknown	Sources BRIDGE Phenotypes Epilepsy, progressive myoclonic 7, 616187 Tags
Red Red List (low evidence)	KCNC3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Spinocerebellar ataxia 13, 605259 Tags
Red Red List (low evidence)	KCND3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Spinocerebellar ataxia 19, 607346 Tags
Red Red List (low evidence)	KCNJ10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes SESAME syndrome, 612780 Enlarged vestibular aqueduct, digenic, 600791 Tags
Red Red List (low evidence)	KCNJ11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Hyperinsulinemic hypoglycemia, familial, 2, 601820 Diabetes, permanent neonatal, 606176 Diabetes mellitus, permanent neonatal, with neurologic features, 606176 {Diabetes mellitus, type 2, susceptibility to}, 125853 Diabetes mellitus, transient neonatal, 3, 610582 Tags
Red Red List (low evidence)	KCNQ2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Seizures, benign neonatal, 1, 121200 Myokymia, 121200 Epileptic encephalopathy, early infantile, 7, 613720 Tags
Red Red List (low evidence)	KCNQ3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Seizures, benign neonatal, type 2, 121201 Tags
Red Red List (low evidence)	KCNT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Epileptic encephalopathy, early infantile, 14, 614959 Epilepsy, nocturnal frontal lobe, 5, 615005 Tags
Red Red List (low evidence)	KCTD7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 Tags
Red Red List (low evidence)	KDM5C	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534 Tags
Red Red List (low evidence)	KDM6A	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 BRIDGE Phenotypes Kabuki syndrome 2, 300867 Tags
Red Red List (low evidence)	KIF11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, 152950 Tags
Red Red List (low evidence)	KIF1A	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Spastic paraplegia 30, autosomal recessive, 610357 Neuropathy, hereditary sensory, type IIC, 614213 Mental retardation, autosomal dominant 9, 614255 Tags
Red Red List (low evidence)	KIF1BP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Goldberg-Shprintzen megacolon syndrome, 609460 Tags new-gene-name
Red Red List (low evidence)	KIF1C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Spastic ataxia 2, autosomal recessive, 611302 Tags
Red Red List (low evidence)	KIF5A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Spastic paraplegia 10, autosomal dominant, 604187 Tags
Red Red List (low evidence)	KIF7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Hydrolethalus syndrome 2, 614120 Acrocallosal syndrome, 200990 Joubert syndrome 12, 200990 Tags
Red Red List (low evidence)	KIRREL3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Mental retardation, autosomal dominant 4, 612581 Tags
Red Red List (low evidence)	KLHL40	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Nemaline myopathy 8, autosomal recessive, 615348 Tags
Red Red List (low evidence)	KMT2A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Wiedemann-Steiner syndrome, 605130 Leukemia, myeloid/lymphoid or mixed-lineage Tags
Red Red List (low evidence)	KMT2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Dystonia Tags
Red Red List (low evidence)	KMT2D	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Kabuki syndrome 1, 147920 Tags
Red Red List (low evidence)	KNL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Microcephaly 4, primary, autosomal recessive, 604321 Tags
Red Red List (low evidence)	KRAS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Lung cancer, somatic, 211980 Bladder cancer, somatic, 109800 Pancreatic carcinoma, somatic, 260350 Gastric cancer, somatic, 137215 Leukemia, acute myelogenous Noonan syndrome 3, 609942 Cardiofaciocutaneous syndrome 2, 615278 Breast cancer, somatic, 114480 SFM syndrome, somatic mosaic, 163200 Tags
Red Red List (low evidence)	KRIT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Cerebral cavernous malformations-1, 116860 Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860 Cavernous malformations of CNS and retina, 116860 Tags
Red Red List (low evidence)	L1CAM	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Hydrocephalus due to aqueductal stenosis, 307000 MASA syndrome, 303350 CRASH syndrome, 303350 Hydrocephalus with Hirschsprung disease, 307000 Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000 Corpus callosum, partial agenesis of, 304100 Tags
Red Red List (low evidence)	L2HGDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes L-2-hydroxyglutaric aciduria, 236792 Tags
Red Red List (low evidence)	LAMA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Poretti-Boltshauser syndrome, 615960 Tags
Red Red List (low evidence)	LAMA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Muscular dystrophy, congenital merosin-deficient, 607855 Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855 Tags
Red Red List (low evidence)	LAMC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Cortical malformations, occipital, 614115 Tags
Red Red List (low evidence)	LAMP2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Danon disease, 300257 Tags
Red Red List (low evidence)	LARGE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840 Tags
Red Red List (low evidence)	LBR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Pelger-Huet anomaly, 169400 Greenberg skeletal dysplasia, 215140 ?Reynolds syndrome, 613471 Tags
Red Red List (low evidence)	LDB3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Myopathy, myofibrillar, 4, 609452 Cardiomyopathy, dilated 1C, 601493 Left ventricular noncompaction 3, with or without dilated cardiomyopathy, 601493 Tags
Red Red List (low evidence)	LGI1	1 review 1 green	Unknown	Sources BRIDGE Phenotypes Epilepsy, familial temporal lobe, 1, 600512 Tags
Red Red List (low evidence)	LHX3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Pituitary hormone deficiency, combined, 3, 221750 Tags
Red Red List (low evidence)	LHX4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Pituitary hormone deficiency, combined, 4, 262700 Tags
Red Red List (low evidence)	LIG4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes LIG4 syndrome, 606593 {Multiple myeloma, resistance to}, 254500 Tags
Red Red List (low evidence)	LITAF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Charcot-Marie-Tooth disease, type 1C, 601098 Tags
Red Red List (low evidence)	LMBRD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Methylmalonic aciduria and homocystinuria, cblF type, 277380 Tags
Red Red List (low evidence)	LMNA	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Emery-Dreifuss muscular dystrophy 2, AD, 181350 Cardiomyopathy, dilated, 1A, 115200 Lipodystrophy, familial partial, 2, 151660 Emery-Dreifuss muscular dystrophy 3, AR, 181350 Charcot-Marie-Tooth disease, type 2B1, 605588 Muscular dystrophy, congenital, 613205 Muscular dystrophy, limb-girdle, type 1B, 159001 Mandibuloacral dysplasia, 248370 Hutchinson-Gilford progeria, 176670 Restrictive dermopathy, lethal, 275210 Heart-hand syndrome, Slovenian type, 610140 Malouf syndrome, 212112 Tags
Red Red List (low evidence)	LRP2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Donnai-Barrow syndrome, 222448 Tags
Red Red List (low evidence)	LRP5	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Osteoporosis-pseudoglioma syndrome, 259770 [Bone mineral density variability 1], 601884 Hyperostosis, endosteal, 144750 van Buchem disease, type 2, 607636 Osteosclerosis, 144750 {Osteoporosis}, 166710 Exudative vitreoretinopathy 4, 601813 Osteopetrosis, autosomal dominant 1, 607634 Tags
Red Red List (low evidence)	LRPPRC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Leigh syndrome, French-Canadian type, 220111 Tags
Red Red List (low evidence)	LRRK2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Parkinson disease 8, 607060 Tags
Red Red List (low evidence)	LYST	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Chediak-Higashi syndrome, 214500 Tags
Red Red List (low evidence)	MAB21L2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Microphthalmia, syndromic 14, 615877 Tags
Red Red List (low evidence)	MAF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Cataract 21, multiple types, 610202 Tags
Red Red List (low evidence)	MAGEL2	1 review 1 green	Other - please specify in evaluation comments	Sources BRIDGE Phenotypes Prader-Willi-like syndrome, 615547 Tags
Red Red List (low evidence)	MAN2B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Mannosidosis, alpha-, types I and II, 248500 Tags
Red Red List (low evidence)	MANBA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Mannosidosis, beta, 248510 Tags
Red Red List (low evidence)	MAOA	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Brunner syndrome, 300615 Tags
Red Red List (low evidence)	MAP2K1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Cardiofaciocutaneous syndrome 3, 615279 Tags
Red Red List (low evidence)	MAP2K2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Cardiofaciocutaneous syndrome 4, 615280 Tags
Red Red List (low evidence)	MAPT	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Dementia, frontotemporal, with or without parkinsonism, 600274 Pick disease, 172700 Supranuclear palsy, progressive, 601104 Supranuclear palsy, progressive atypical, 260540 {Parkinson disease, susceptibility to}, 168600 Tags
Red Red List (low evidence)	MARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Spastic ataxia 3, autosomal recessive, 611390 Tags
Red Red List (low evidence)	MASP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes 3MC syndrome 1, 257920 Tags
Red Red List (low evidence)	MC2R	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 Tags
Red Red List (low evidence)	MCCC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 Tags
Red Red List (low evidence)	MCCC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes 3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 Tags
Red Red List (low evidence)	MCEE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Methylmalonyl-CoA epimerase deficiency, 251120 Tags
Red Red List (low evidence)	MCOLN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Mucolipidosis IV, 252650 Tags
Red Red List (low evidence)	MCPH1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Microcephaly 1, primary, autosomal recessive, 251200 Tags
Red Red List (low 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 BRIDGE Phenotypes Rett syndrome, 312750 Mental retardation, X-linked, syndromic 13, 300055 Rett syndrome, preserved speech variant, 312750 Encephalopathy, neonatal severe, 300673 {Autism susceptibility, X-linked 3}, 300496 Angelman syndrome, 105830 Mental retardation, X-linked syndromic, Lubs type, 300260 Tags
Red Red List (low evidence)	MED12	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Opitz-Kaveggia syndrome, 305450 Lujan-Fryns syndrome, 309520 Ohdo syndrome, X-linked, 300895 Tags
Red Red List (low evidence)	MED17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 Tags
Red Red List (low evidence)	MEF2C	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443 Chromosome 5q14.3 deletion syndrome, 613443 Tags
Red Red List (low evidence)	MEGF10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, 614399 Tags
Red Red List (low evidence)	MEGF8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Carpenter syndrome 2, 614976 Tags
Red Red List (low evidence)	MFSD8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Ceroid lipofuscinosis, neuronal, 7, 610951 Macular dystrophy with central cone involvement, 616170 Tags
Red Red List (low evidence)	MGAT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Congenital disorder of glycosylation, type IIa, 212066 Tags
Red Red List (low evidence)	MGP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Keutel syndrome, 245150 Tags
Red Red List (low evidence)	MICU1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Myopathy with extrapyramidal signs, 615673 Tags
Red Red List (low evidence)	MID1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Opitz GBBB syndrome, type I, 300000 Tags
Red Red List (low evidence)	MITF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Waardenburg syndrome, type 2A, 193510 Waardenburg syndrome/ocular albinism, digenic, 103470 Tietz albinism-deafness syndrome, 103500 {Melanoma, cutaneous malignant, susceptibility to, 8}, 614456 Tags
Red Red List (low evidence)	MKKS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes McKusick-Kaufman syndrome, 236700 Bardet-Biedl syndrome 6, 605231 Tags
Red Red List (low evidence)	MKS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Meckel syndrome 1, 249000 Bardet-Biedl syndrome 13, 615990 Tags
Red Red List (low evidence)	MLC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Megalencephalic leukoencephalopathy with subcortical cysts, 604004 Tags
Red Red List (low evidence)	MLYCD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Malonyl-CoA decarboxylase deficiency, 248360 Tags
Red Red List (low evidence)	MMAA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Methylmalonic aciduria, vitamin B12-responsive, 251100 Tags
Red Red List (low evidence)	MMAB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 Tags
Red Red List (low evidence)	MMACHC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Methylmalonic aciduria and homocystinuria, cblC type, 277400 Tags
Red Red List (low evidence)	MMADHC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Homocystinuria, cblD type, variant 1, 277410 Methylmalonic aciduria, cblD type, variant 2, 277410 Methylmalonic aciduria and homocystinuria, cblD type, 277410 Tags
Red Red List (low evidence)	MNX1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Currarino syndrome, 176450 Tags
Red Red List (low evidence)	MOCS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Molybdenum cofactor deficiency A, 252150 Tags
Red Red List (low evidence)	MOCS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Molybdenum cofactor deficiency B, 252160 Tags
Red Red List (low evidence)	MPDU1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Congenital disorder of glycosylation, type If, 609180 Tags
Red Red List (low evidence)	MPI	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Congenital disorder of glycosylation, type Ib, 602579 Tags
Red Red List (low evidence)	MPLKIP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Trichothiodystrophy, nonphotosensitive 1, 234050 Tags
Red Red List (low evidence)	MPV17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 Tags
Red Red List (low evidence)	MPZ	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Charcot-Marie-Tooth disease, type 1B, 118200 Dejerine-Sottas disease, 145900 Neuropathy, congenital hypomyelinating, 605253 Charcot-Marie-Tooth disease, type 2J, 607736 Roussy-Levy syndrome, 180800 Charcot-Marie-Tooth disease, type 2I, 607677 Charcot-Marie-Tooth disease, dominant intermediate D, 607791 Tags
Red Red List (low evidence)	MRE11	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Ataxia-telangiectasia-like disorder, 604391 Tags
Red Red List (low evidence)	MT-ATP6	1 review 1 green	Other - please specify in evaluation comments	Sources BRIDGE Tags
Red Red List (low evidence)	MT-ND1	1 review 1 green	MITOCHONDRIAL	Sources BRIDGE Phenotypes LEBER OPTIC ATROPHY ALZHEIMER DISEASE SIDS MITOCHONDRIAL COMPLEX I DEFICIENCY DYSTONIA, ADULT-ONSET MELAS Tags
Red Red List (low evidence)	MT-ND4	1 review 1 green	MITOCHONDRIAL	Sources BRIDGE Phenotypes LEBER OPTIC ATROPHY MELAS SYNDROME LEBER OPTIC ATROPHY AND DYSTONIA MITOCHONDRIAL COMPLEX I DEFICIENCY Tags
Red Red List (low evidence)	MT-TK	1 review 1 green	Unknown	Sources BRIDGE Tags
Red Red List (low evidence)	MTHFR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Homocystinuria due to MTHFR deficiency, 236250 {Schizophrenia, susceptibility to}, 181500 {Vascular disease, susceptibility to} {Neural tube defects, susceptibility to}, 601634 {Thromboembolism, susceptibility to}, 188050 Tags
Red Red List (low evidence)	MTM1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Myotubular myopathy, X-linked, 310400 Tags
Red Red List (low evidence)	MTMR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Charcot-Marie-Tooth disease, type 4B1, 601382 Tags
Red Red List (low evidence)	MTO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Combined oxidative phosphorylation deficiency 10, 614702 Tags
Red Red List (low evidence)	MTPAP	1 review 1 green	Other - please specify in evaluation comments	Sources BRIDGE Phenotypes Ataxia, spastic, 4, 613672 Tags
Red Red List (low evidence)	MTR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 {Neural tube defects, folate-sensitive, susceptibility to}, 601634 Tags
Red Red List (low evidence)	MTRR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Homocystinuria-megaloblastic anemia, cbl E type, 236270 {Neural tube defects, folate-sensitive, susceptibility to}, 601634 Tags
Red Red List (low evidence)	MTTP	1 review 1 green	Other - please specify in evaluation comments	Sources BRIDGE Phenotypes Abetalipoproteinemia, 200100 {Metabolic syndrome, protection against}, 605552 Tags
Red Red List (low evidence)	MUT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Methylmalonic aciduria, mut(0) type, 251000 Tags new-gene-name
Red Red List (low evidence)	MYBPC1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Arthrogryposis, distal, type 1B, 614335 Lethal congenital contracture syndrome 4, 614915 Tags
Red Red List (low evidence)	MYCN	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Feingold syndrome, 164280 Tags
Red Red List (low evidence)	MYH3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Arthrogryposis, distal, type 2A, 193700 Arthrogryposis, distal, type 2B, 601680 Tags
Red Red List (low evidence)	MYO5A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Griscelli syndrome, type 1, 214450 Tags
Red Red List (low evidence)	MYO7A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Usher syndrome, type 1B, 276900 Deafness, autosomal recessive 2, 600060 Deafness, autosomal dominant 11, 601317 Tags
Red Red List (low evidence)	NAA10	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 BRIDGE Phenotypes N-terminal acetyltransferase deficiency, 300855 ?Microphthalmia, syndromic 1, 309800 Tags
Red Red List (low evidence)	NAGA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Schindler disease, type I, 609241 Kanzaki disease, 609242 Schindler disease, type III, 609241 Tags
Red Red List (low evidence)	NAGLU	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 Tags
Red Red List (low evidence)	NAGS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes N-acetylglutamate synthase deficiency, 237310 Tags
Red Red List (low evidence)	NALCN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Neuroaxonal neurodegeneration, infantile, with facial dysmophism, 615419 Tags
Red Red List (low evidence)	NBN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Nijmegen breakage syndrome, 251260 Aplastic anemia, 609135 Leukemia, acute lymphoblastic, 613065 Tags
Red Red List (low evidence)	NDE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Lissencephaly 4 (with microcephaly), 614019 ?Microhydranencephaly, 605013 Tags
Red Red List (low evidence)	NDP	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Norrie disease, 310600 Exudative vitreoretinopathy 2, X-linked, 305390 Tags
Red Red List (low evidence)	NDRG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Charcot-Marie-Tooth disease, type 4D, 601455 Tags
Red Red List (low evidence)	NDUFA1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Mitochondrial complex I deficiency, 252010 Tags
Red Red List (low evidence)	NDUFS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Mitochondrial complex I deficiency, 252010 Tags
Red Red List (low evidence)	NDUFS4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Leigh syndrome, 256000 Mitochondrial complex I deficiency, 252010 Tags
Red Red List (low evidence)	NDUFS7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Leigh syndrome, 256000 Tags
Red Red List (low evidence)	NDUFS8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000 Tags
Red Red List (low evidence)	NDUFV1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Mitochondrial complex I deficiency, 252010 Tags
Red Red List (low evidence)	NEFL	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Tags
Red Red List (low evidence)	NEU1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Sialidosis, type I, 256550 Sialidosis, type II, 256550 Tags
Red Red List (low evidence)	NEXMIF	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Mental retardation, X-linked 98, 300912 Tags
Red Red List (low evidence)	NF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Neurofibromatosis, type 1, 162200 Leukemia, juvenile myelomonocytic, 607785 Neurofibromatosis, familial spinal, 162210 Neurofibromatosis-Noonan syndrome, 601321 Watson syndrome, 193520 Tags
Red Red List (low evidence)	NFIX	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Sotos syndrome 2, 614753 Marshall-Smith syndrome, 602535 Tags
Red Red List (low evidence)	NFU1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Multiple mitochondrial dysfunctions syndrome 1, 605711 Tags
Red Red List (low evidence)	NGLY1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Congenital disorder of glycosylation, type Iv, 615273 Tags
Red Red List (low evidence)	NHEJ1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, 611291 Tags
Red Red List (low evidence)	NHLRC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Epilepsy, progressive myoclonic 2B (Lafora), 254780 Tags
Red Red List (low evidence)	NHS	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Nance-Horan syndrome, 302350 Cataract 40, X-linked, 302200 Tags
Red Red List (low evidence)	NIPA1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Spastic paraplegia 6, autosomal dominant, 600363 Tags
Red Red List (low evidence)	NIPBL	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Cornelia de Lange syndrome 1, 122470 Tags
Red Red List (low evidence)	NKX2-1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Goiter, familial, due to TTF-1 defect Chorea, hereditary benign, 118700 Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 Tags
Red Red List (low evidence)	NKX2-5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Atrial septal defect 7, with or without AV conduction defects, 108900 Tetrology of Fallot, 187500 Hypothyroidism, congenital nongoitrous, 5, 225250 Ventricular septal defect 3, 614432 Hypoplastic left heart syndrome 2, 614435 Conotruncal heart malformations, variable, 217095 Tags
Red Red List (low evidence)	NOP56	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Spinocerebellar ataxia 36, 614153 Tags
Red Red List (low evidence)	NPC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Niemann-Pick disease, type C1, 257220 Niemann-Pick disease, type D, 257220 Tags
Red Red List (low evidence)	NPC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Niemann-pick disease, type C2, 607625 Tags
Red Red List (low evidence)	NPHP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Nephronophthisis 1, juvenile, 256100 Senior-Loken syndrome-1, 266900 Joubert syndrome 4, 609583 Tags
Red Red List (low evidence)	NR2F1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Bosch-Boonstra-Schaaf optic atrophy syndrome, 615722 Tags
Red Red List (low evidence)	NRAS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Autoimmune lymphoproliferative syndrome type IV, 614470 Noonan syndrome 6, 613224 Epidermal nevus, somatic, 162900 Thyroid carcinoma, follicular, somatic, 188470 Colorectal cancer, somatic, 114500 Melanocytic nevus syndrome, congenital, somatic, 137550 Neurocutaneous melanosis, somatic, 249400 Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 Tags
Red Red List (low evidence)	NSD1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Sotos syndrome 1, 117550 Leukemia, acute myeloid, 601626 Beckwith-Wiedemann syndrome, 130650 Tags
Red Red List (low evidence)	NSDHL	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 BRIDGE Phenotypes CHILD syndrome, 308050 CK syndrome, 300831 Tags
Red Red List (low evidence)	NT5C2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Spastic paraplegia 45, 613162 Tags
Red Red List (low evidence)	NTRK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Insensitivity to pain, congenital, with anhidrosis, 256800 Medullary thyroid carcinoma, familial, 155240 Tags
Red Red List (low evidence)	NUBPL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Mitochondrial complex I deficiency, 252010 Tags
Red Red List (low evidence)	OBSL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes 3-M syndrome 2, 612921 Tags
Red Red List (low evidence)	OCRL	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Lowe syndrome, 309000 Dent disease 2, 300555 Tags
Red Red List (low evidence)	OFD1	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 BRIDGE Phenotypes Orofaciodigital syndrome I, 311200 Simpson-Golabi-Behmel syndrome, type 2, 300209 Joubert syndrome 10, 300804 ?Retinitis pigmentosa 23, 300424 Tags
Red Red List (low evidence)	OPA3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes 3-methylglutaconic aciduria, type III, 258501 Optic atrophy 3 with cataract, 165300 Tags
Red Red List (low evidence)	OPHN1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 Tags
Red Red List (low evidence)	ORC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Meier-Gorlin syndrome 1, 224690 Tags
Red Red List (low evidence)	ORC4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Meier-Gorlin syndrome 2, 613800 Tags
Red Red List (low evidence)	ORC6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Meier-Gorlin syndrome 3, 613803 Tags
Red Red List (low evidence)	OTC	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Ornithine transcarbamylase deficiency, 311250 Tags
Red Red List (low evidence)	OTX2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Microphthalmia, syndromic 5, 610125 Pituitary hormone deficiency, combined, 6, 613986 Retinal dystrophy, early-onset, and pituitary dysfunction, 610125 Tags
Red Red List (low evidence)	OXCT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 Tags
Red Red List (low evidence)	P3H1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Other Phenotypes Osteogenesis imperfecta, type VIII, 610915 Tags
Red Red List (low evidence)	PACS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Mental retardation, autosomal dominant 17, 615009 Tags
Red Red List (low evidence)	PAFAH1B1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Lissencephaly 1, 607432 Subcortical laminar heterotopia, 607432 Tags
Red Red List (low evidence)	PAH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Phenylketonuria, 261600 [Hyperphenylalaninemia, non-PKU mild], 261600 Tags
Red Red List (low evidence)	PAK3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Mental retardation, X-linked 30/47, 300558 Tags
Red Red List (low evidence)	PALB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Fanconi anemia, complementation group N, 610832 {Breast cancer, susceptibility to}, 114480 {Pancreatic cancer, susceptibility to, 3}, 613348 Tags
Red Red List (low evidence)	PANK2	1 review 1 green	Other - please specify in evaluation comments	Sources BRIDGE Phenotypes Neurodegeneration with brain iron accumulation 1, 234200 HARP syndrome, 607236 Tags
Red Red List (low evidence)	PAPSS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847 Tags
Red Red List (low evidence)	PARK7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Parkinson disease 7, autosomal recessive early-onset, 606324 Tags
Red Red List (low evidence)	PAX2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Papillorenal syndrome, 120330 Renal hypoplasia, isolated, 191830 Glomerulosclerosis, focal segmental, 7, 616002 Tags
Red Red List (low evidence)	PAX6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Aniridia, 106210 Peters anomaly, 604229 Cataract with late-onset corneal dystrophy, 106210 Keratitis, 148190 Foveal hypoplasia 1, 136520 ?Morning glory disc anomaly, 120430 Optic nerve hypoplasia, 165550 Coloboma, ocular, 120200 Coloboma of optic nerve, 120430 Gillespie syndrome, 206700 Tags
Red Red List (low evidence)	PAX8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700 Tags
Red Red List (low evidence)	PC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Pyruvate carboxylase deficiency, 266150 Tags
Red Red List (low evidence)	PCBD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Hyperphenylalaninemia, BH4-deficient, D, 264070 Tags
Red Red List (low evidence)	PCCA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Propionicacidemia, 606054 Tags
Red Red List (low evidence)	PCCB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Propionicacidemia, 606054 Tags
Red Red List (low evidence)	PCDH19	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 BRIDGE Phenotypes Epileptic encephalopathy, early infantile, 9, 300088 Tags
Red Red List (low evidence)	PCNT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Microcephalic osteodysplastic primordial dwarfism, type II, 210720 Tags
Red Red List (low evidence)	PDCD10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Cerebral cavernous malformations 3, 603285 Tags
Red Red List (low evidence)	PDE4D	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes {Stroke, susceptibility to, 1}, 606799 Acrodysostosis 2, with or without hormone resistance, 614613 Tags
Red Red List (low evidence)	PDGFB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Meningioma, SIS-related, 607174 Dermatofibrosarcoma protuberans, 607907 Basal ganglia calcification, idiopathic, 5, 615483 Tags
Red Red List (low evidence)	PDGFRB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Myeloproliferative disorder with eosinophilia, 131440 Basal ganglia calcification, idiopathic, 4, 615007 Myofibromatosis, infantile, 1, 228550 Tags
Red Red List (low evidence)	PDHA1	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 BRIDGE Phenotypes Pyruvate dehydrogenase E1-alpha deficiency, 312170 Tags
Red Red List (low evidence)	PDHX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Lacticacidemia due to PDX1 deficiency, 245349 Tags
Red Red List (low evidence)	PDSS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Coenzyme Q10 deficiency, primary, 3, 614652 Tags
Red Red List (low evidence)	PDYN	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Spinocerebellar ataxia 23, 610245 Tags
Red Red List (low evidence)	PEPD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Prolidase deficiency, 170100 Tags
Red Red List (low evidence)	PEX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Peroxisome biogenesis disorder 1A (Zellweger), 214100 Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 Tags
Red Red List (low evidence)	PEX10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Peroxisome biogenesis disorder 6A (Zellweger), 614870 Peroxisome biogenesis disorder 6B, 614871 Tags
Red Red List (low evidence)	PEX12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Peroxisome biogenesis disorder 3A (Zellweger), 614859 Peroxisome biogenesis disorder 3B, 266510 Tags
Red Red List (low evidence)	PEX13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Peroxisome biogenesis disorder 11A (Zellweger), 614883 Peroxisome biogenesis disorder 11B, 614885 Tags
Red Red List (low evidence)	PEX14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Peroxisome biogenesis disorder 13A (Zellweger), 614887 Tags
Red Red List (low evidence)	PEX16	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Peroxisome biogenesis disorder 8A, (Zellweger), 614876 Peroxisome biogenesis disorder 8B, 614877 Tags
Red Red List (low evidence)	PEX19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Peroxisome biogenesis disorder 12A (Zellweger), 614886 Tags
Red Red List (low evidence)	PEX2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Peroxisome biogenesis disorder 5A (Zellweger), 614866 Peroxisome biogenesis disorder 5B, 614867 Tags
Red Red List (low evidence)	PEX26	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Peroxisome biogenesis disorder 7A (Zellweger), 614872 Peroxisome biogenesis disorder 7B, 614873 Tags
Red Red List (low evidence)	PEX3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Peroxisome biogenesis disorder 10A (Zellweger), 614882 Tags
Red Red List (low evidence)	PEX5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Peroxisome biogenesis disorder 2A (Zellweger), 214110 Peroxisome biogenesis disorder 2B, 202370 Tags
Red Red List (low evidence)	PEX6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Peroxisome biogenesis disorder 4A (Zellweger), 614862 Peroxisome biogenesis disorder 4B, 614863 Tags
Red Red List (low evidence)	PEX7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Rhizomelic chondrodysplasia punctata, type 1, 215100 Peroxisome biogenesis disorder 9B, 614879 Tags
Red Red List (low evidence)	PGAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes ?Mental retardation, autosomal recessive 42, 615802 Tags
Red Red List (low evidence)	PGAP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Hyperphosphatasia with mental retardation syndrome 3, 614207 Tags
Red Red List (low evidence)	PGAP3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Hyperphosphatasia with mental retardation syndrome 4, 615716 Tags
Red Red List (low evidence)	PGK1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Phosphoglycerate kinase 1 deficiency, 300653 Tags
Red Red List (low evidence)	PGM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Congenital disorder of glycosylation, type It, 614921 Tags
Red Red List (low evidence)	PHF6	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Borjeson-Forssman-Lehmann syndrome, 301900 Tags
Red Red List (low evidence)	PHF8	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Mental retardation syndrome, X-linked, Siderius type, 300263 Tags
Red Red List (low evidence)	PHGDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Phosphoglycerate dehydrogenase deficiency, 601815 Neu-Laxova syndrome1, 256520 Tags
Red Red List (low evidence)	PHOX2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 {Neuroblastoma, susceptibility to, 2}, 613013 Neuroblastoma with Hirschsprung disease, 613013 Tags
Red Red List (low evidence)	PIEZO2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Arthrogryposis, distal, type 5, 108145 Arthrogryposis, distal, type 3, 114300 ?Marden-Walker syndrome, 248700 Tags
Red Red List (low evidence)	PIGA	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Paroxysmal nocturnal hemoglobinuria, somatic, 300818 Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868 Tags
Red Red List (low evidence)	PIGL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes CHIME syndrome, 280000 Tags
Red Red List (low evidence)	PIGN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 Tags
Red Red List (low evidence)	PIGO	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Hyperphosphatasia with mental retardation syndrome 2, 614749 Tags
Red Red List (low evidence)	PIGV	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Hyperphosphatasia with mental retardation syndrome 1, 239300 Tags
Red Red List (low evidence)	PIK3CA	1 review 1 green	Other - please specify in evaluation comments	Sources BRIDGE Phenotypes Ovarian cancer, somatic, 167000 Breast cancer, somatic, 114480 Colorectal cancer, somatic, 114500 Gastric cancer, somatic, 613659 Hepatocellular carcinoma, somatic, 114550 Nonsmall cell lung cancer, somatic, 211980 Keratosis, seborrheic, somatic, 182000 Nevus, epidermal, somatic, 162900 CLOVE syndrome, somatic, 612918 Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501 Cowden syndrome 5, 615108 Tags
Red Red List (low evidence)	PIK3R1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes ?Agammaglobulinemia 7, autosomal recessive, 615214 SHORT syndrome, 269880 Immunodeficiency 36, 616005 Tags
Red Red List (low evidence)	PIK3R2	1 review 1 green	Unknown	Sources BRIDGE Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387 Tags
Red Red List (low evidence)	PINK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Parkinson disease 6, early onset, 605909 Tags
Red Red List (low evidence)	PITX3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Anterior segment mesenchymal dysgenesis, 107250 Cataract 11, multiple types, 610623 Cataract 11, syndromic, 610623 Tags
Red Red List (low evidence)	PLA2G6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Infantile neuroaxonal dystrophy 1, 256600 Neurodegeneration with brain iron accumulation 2B, 610217 Parkinson disease 14, 612953 Tags
Red Red List (low evidence)	PLCB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Epileptic encephalopathy, early infantile, 12, 613722 Tags
Red Red List (low evidence)	PLEC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Muscular dystrophy with epidermolysis bullosa simplex, 226670 Epidermolysis bullosa simplex, Ogna type, 131950 Epidermolysis bullosa simplex with pyloric atresia, 612138 Muscular dystrophy, limb-girdle, type 2Q, 613723 Tags
Red Red List (low evidence)	PLK4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171 Tags
Red Red List (low evidence)	PLOD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Ehlers-Danlos syndrome, type VI, 225400 Tags
Red Red List (low evidence)	PLP1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Pelizaeus-Merzbacher disease, 312080 Spastic paraplegia 2, X-linked, 312920 Tags
Red Red List (low evidence)	PMM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Congenital disorder of glycosylation, type Ia, 212065 Tags
Red Red List (low evidence)	PMP22	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Charcot-Marie-Tooth disease, type 1A, 118220 Dejerine-Sottas disease, 145900 Neuropathy, recurrent, with pressure palsies, 162500 Charcot-Marie-Tooth disease, type 1E, 118300 Roussy-Levy syndrome, 180800 Neuropathy, inflammatory demyelinating, 139393 Tags
Red Red List (low evidence)	PNKD	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Paroxysmal nonkinesigenic dyskinesia, 118800 Tags
Red Red List (low evidence)	PNKP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Microcephaly, seizures, and developmental delay, 613402 Tags
Red Red List (low evidence)	PNPLA6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Spastic paraplegia 39, autosomal recessive, 612020 Boucher-Neuhauser syndrome, 215470 Tags
Red Red List (low evidence)	PNPO	1 review 1 green	Unknown	Sources BRIDGE Phenotypes Pyridoxamine 5'-phosphate oxidase deficiency, 610090 Tags
Red Red List (low evidence)	PNPT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Combined oxidative phosphorylation deficiency 13, 614932 Deafness, autosomal recessive 70, 614934 Tags
Red Red List (low evidence)	POC1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 Tags
Red Red List (low evidence)	POGZ	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Intellectual Disability Tags
Red Red List (low evidence)	POLG	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Progressive external ophthalmoplegia, autosomal recessive, 258450 Progressive external ophthalmoplegia, autosomal dominant, 157640 Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662 Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 Tags
Red Red List (low evidence)	POLR3A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 Tags
Red Red List (low evidence)	POLR3B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 Tags
Red Red List (low evidence)	POMGNT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157 Tags
Red Red List (low evidence)	POMGNT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830 Tags
Red Red List (low evidence)	POMT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308 Tags
Red Red List (low evidence)	POMT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158 Tags
Red Red List (low evidence)	PORCN	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 BRIDGE Phenotypes Focal dermal hypoplasia, 305600 Tags
Red Red List (low evidence)	POU1F1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Pituitary hormone deficiency, combined, 1, 613038 Tags
Red Red List (low evidence)	PPP2R1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Intellectual Disability Tags
Red Red List (low evidence)	PPP2R2B	1 review 1 green	Other - please specify in evaluation comments	Sources BRIDGE Phenotypes Spinocerebellar ataxia 12, 604326 Tags
Red Red List (low evidence)	PPP2R5D	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Intellectual disability Tags
Red Red List (low evidence)	PPT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Ceroid lipofuscinosis, neuronal, 1, 256730 Tags
Red Red List (low evidence)	PQBP1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Renpenning syndrome, 309500 Tags
Red Red List (low evidence)	PRICKLE1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Epilepsy, progressive myoclonic 1B, 612437 Tags
Red Red List (low evidence)	PRICKLE2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Epilepsy, progressive myoclonic 5, 613832 Tags
Red Red List (low evidence)	PRKAR1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Carney complex, type 1, 160980 Myxoma, intracardiac, 255960 Thyroid carcinoma, papillary, somatic, 188550 Pigmented nodular adrenocortical disease, primary, 1, 610489 Adrenocortical tumor, somatic, Acrodysostosis 1, with or without hormone resistance, 101800 Tags
Red Red List (low evidence)	PRKCG	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Spinocerebellar ataxia 14, 605361 Tags
Red Red List (low evidence)	PRKN	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Parkinson disease, juvenile, type 2, 600116 Adenocarcinoma of lung, somatic, 211980 Adenocarcinoma, ovarian, somatic, 167000 {Leprosy, susceptibility to}, 607572 Tags
Red Red List (low evidence)	PRKRA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Dystonia 16, 612067 Tags
Red Red List (low evidence)	PROP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Pituitary hormone deficiency, combined, 2, 262600 Tags
Red Red List (low evidence)	PRPS1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Gout, PRPS-related, 300661 Phosphoribosylpyrophosphate synthetase superactivity, 300661 Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070 Arts syndrome, 301835 Deafness, X-linked 1, 304500 Tags
Red Red List (low evidence)	PRRT2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Episodic kinesigenic dyskinesia 1, 128200 Seizures, benign familial infantile, 2, 605751 Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066 Tags
Red Red List (low evidence)	PRSS12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Mental retardation, autosomal recessive 1, 249500 Tags
Red Red List (low evidence)	PRX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Dejerine-Sottas disease, 145900 Charcot-Marie-Tooth disease, type 4F, 614895 Tags
Red Red List (low evidence)	PSAP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Metachromatic leukodystrophy due to SAP-b deficiency, 249900 Gaucher disease, atypical, 610539 Combined SAP deficiency, 611721 Krabbe disease, atypical, 611722 Tags
Red Red List (low evidence)	PSEN1	1 review 1 green	Other - please specify in evaluation comments	Sources BRIDGE Phenotypes Alzheimer disease, type 3, 607822 Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822 Dementia, frontotemporal, 600274 Pick disease, 172700 Cardiomyopathy, dilated, 1U, 613694 Acne inversa, familial, 3, 613737 Tags
Red Red List (low evidence)	PSMB8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Autoinflammation, lipodystrophy, and dermatosis syndrome, 256040 Tags
Red Red List (low evidence)	PSPH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Phosphoserine phosphatase deficiency, 614023 Tags
Red Red List (low evidence)	PTCH1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Basal cell nevus syndrome, 109400 Basal cell carcinoma, somatic, 605462 Holoprosencephaly-7, 610828 Tags
Red Red List (low evidence)	PTCHD1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Autism/ID Tags
Red Red List (low evidence)	PTDSS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Lenz-Majewski hyperostotic dwarfism, 151050 Tags
Red Red List (low evidence)	PTEN	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Cowden syndrome 1, 158350 Lhermitte-Duclos syndrome, 158350 Bannayan-Riley-Ruvalcaba syndrome, 153480 {Meningioma}, 607174 {Glioma susceptibility 2}, 613028 Macrocephaly/autism syndrome, 605309 PTEN hamartoma tumor syndrome VATER association with macrocephaly and ventriculomegaly, 276950 {Prostate cancer, somatic}, 176807 Thyroid carcinoma, follicular, somatic, 188470 Malignant melanoma, somatic, 155600 Endometrial carcinoma, somatic, 608089 Squamous cell carcinoma, head and neck, somatic, 275355 Tags
Red Red List (low evidence)	PTF1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Pancreatic and cerebellar agenesis, 609069 Pancreatic agenesis 2, 615935 Tags
Red Red List (low evidence)	PTH1R	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Metaphyseal chondrodysplasia, Murk Jansen type, 156400 Chondrodysplasia, Blomstrand type, 215045 Eiken syndrome, 600002 Failure of tooth eruption, primary, 125350 Tags
Red Red List (low evidence)	PTPN11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Noonan syndrome 1, 163950 LEOPARD syndrome 1, 151100 Leukemia, juvenile myelomonocytic, 607785 Metachondromatosis, 156250 Tags
Red Red List (low evidence)	PTS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Hyperphenylalaninemia, BH4-deficient, A, 261640 Tags
Red Red List (low evidence)	PURA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Mental retardation, autosomal dominant 31, 616158 Tags
Red Red List (low evidence)	PYCR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Cutis laxa, autosomal recessive, type IIB, 612940 Cutis laxa, autosomal recessive, type IIIB, 614438 Tags
Red Red List (low evidence)	QARS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760 Tags new-gene-name
Red Red List (low evidence)	QDPR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Hyperphenylalaninemia, BH4-deficient, C, 261630 Tags
Red Red List (low evidence)	RAB18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Warburg micro syndrome 3, 614222 Tags
Red Red List (low evidence)	RAB23	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Carpenter syndrome, 201000 Tags
Red Red List (low evidence)	RAB39B	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Mental retardation, X-linked 72, 300271 ?Waisman syndrome, 311510 Tags
Red Red List (low evidence)	RAB3GAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Warburg micro syndrome 1, 600118 Tags
Red Red List (low evidence)	RAB3GAP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Martsolf syndrome, 212720 Warburg micro syndrome 2, 614225 Tags
Red Red List (low evidence)	RAD21	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Cornelia de Lange syndrome 4, 614701 Tags
Red Red List (low evidence)	RAF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Noonan syndrome 5, 611553 LEOPARD syndrome 2, 611554 Cardiomyopathy, dilated, 1NN, 615916 Tags
Red Red List (low evidence)	RAI1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Smith-Magenis syndrome, 182290 Tags
Red Red List (low evidence)	RAPSN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, 608931 Myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency, 608931 Fetal akinesia deformation sequence, 208150 Tags
Red Red List (low evidence)	RARB	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Microphthalmia, syndromic 12, 615524 Tags
Red Red List (low evidence)	RARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Pontocerebellar hypoplasia, type 6, 611523 Tags
Red Red List (low evidence)	RAX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Microphthalmia, isolated 3, 611038 Tags
Red Red List (low evidence)	RBM8A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Thrombocytopenia-absent radius syndrome, 274000 Tags
Red Red List (low evidence)	RECQL4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Rothmund-Thomson syndrome, 268400 RAPADILINO syndrome, 266280 Baller-Gerold syndrome, 218600 Tags
Red Red List (low evidence)	REEP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Spastic paraplegia 31, autosomal dominant, 610250 ?Neuronopathy, distal hereditary motor, type VB, 614751 Tags
Red Red List (low evidence)	REEP2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes ?Spastic paraplegia 72, autosomal recessive, 615625 ?Spastic paraplegia 72, autosomal dominant, 615625 Tags
Red Red List (low evidence)	RELN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Lissencephaly 2 (Norman-Roberts type), 257320 Tags
Red Red List (low evidence)	RET	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Multiple endocrine neoplasia IIA, 171400 Medullary thyroid carcinoma, 155240 Multiple endocrine neoplasia IIB, 162300 Central hypoventilation syndrome, congenital, 209880 Pheochromocytoma, 171300 Renal agenesis, 191830 {Hirschsprung disease, susceptibility to, 1}, 142623 Tags
Red Red List (low evidence)	RETREG1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Neuropathy, hereditary sensory and autonomic, type IIB, 613115 Tags
Red Red List (low evidence)	RFX6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Mitchell-Riley syndrome, 615710 Tags
Red Red List (low evidence)	RNASEH2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Aicardi-Goutieres syndrome 4, 610333 Tags
Red Red List (low evidence)	RNASEH2B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Aicardi-Goutieres syndrome 2, 610181 Tags
Red Red List (low evidence)	RNASEH2C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Aicardi-Goutieres syndrome 3, 610329 Tags
Red Red List (low evidence)	RNASET2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Leukoencephalopathy, cystic, without megalencephaly, 612951 Tags
Red Red List (low evidence)	RNF216	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 Tags
Red Red List (low evidence)	RNU4ATAC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Microcephalic osteodysplastic primordial dwarfism, type I, 210710 Tags
Red Red List (low evidence)	ROGDI	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Kohlschutter-Tonz syndrome, 226750 Tags
Red Red List (low evidence)	ROR2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Brachydactyly, type B1, 113000 Robinow syndrome, autosomal recessive, 268310 Tags
Red Red List (low evidence)	RPGRIP1L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Joubert syndrome 7, 611560 Meckel syndrome 5, 611561 COACH syndrome, 216360 Tags
Red Red List (low evidence)	RPS6KA3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Coffin-Lowry syndrome, 303600 Mental retardation, X-linked 19, 300844 Tags
Red Red List (low evidence)	RTEL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Dyskeratosis congenita, autosomal recessive 5, 615190 Dyskeratosis congenita, autosomal dominant 4, 615190 Tags
Red Red List (low evidence)	RTN2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Spastic paraplegia 12, autosomal dominant, 604805 Tags
Red Red List (low evidence)	RTTN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Polymicrogyria with seizures, 614833 Microcephaly, evere growth failure, brain malformations and dermatitis Tags
Red Red List (low evidence)	RYR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes {Malignant hyperthermia susceptibility 1}, 145600 Central core disease, 117000 Minicore myopathy with external ophthalmoplegia, 255320 Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 King-Denborough syndrome, 145600 Tags
Red Red List (low evidence)	SACS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Spastic ataxia, Charlevoix-Saguenay type, 270550 Tags
Red Red List (low evidence)	SALL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Townes-Brocks syndrome, 107480 Townes-Brocks branchiootorenal-like syndrome, 107480 Tags
Red Red List (low evidence)	SAMHD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Aicardi-Goutieres syndrome 5, 612952 Chilblain lupus 2, 614415 Tags
Red Red List (low evidence)	SATB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Glass syndrome, 612313 Tags
Red Red List (low evidence)	SBDS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Shwachman-Bodian-Diamond syndrome, 260400 Tags
Red Red List (low evidence)	SBF2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Charcot-Marie-Tooth disease, type 4B2, 604563 Tags
Red Red List (low evidence)	SC5D	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Lathosterolosis, 607330 Tags
Red Red List (low evidence)	SCARB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 Tags
Red Red List (low evidence)	SCN11A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Neuropathy, hereditary sensory and autonomic, type VII, 615548 Episodic pain syndrome, familial, 3, 615552 Tags
Red Red List (low evidence)	SCN1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Epilepsy, generalized, with febrile seizures plus, type 2, 604403 Dravet syndrome, 607208 Migraine, familial hemiplegic, 3, 609634 Febrile seizures, familial, 3A, 604403 Tags
Red Red List (low evidence)	SCN1B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Epilepsy, generalized, with febrile seizures plus, type 1, 604233 Brugada syndrome 5, 612838 Cardiac conduction defect, nonspecific, 612838 Atrial fibrillation, familial, 13, 615377 Tags
Red Red List (low evidence)	SCN2A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Seizures, benign familial infantile, 3, 607745 Epileptic encephalopathy, early infantile, 11, 613721 Tags
Red Red List (low evidence)	SCN4A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Hyperkalemic periodic paralysis, type 2, 170500 Paramyotonia congenita, 168300 Myotonia congenita, atypical, acetazolamide-responsive, 608390 Myasthenic syndrome, acetazolamide-responsive, 614198 Hypokalemic periodic paralysis, type 2, 613345 Tags
Red Red List (low evidence)	SCN8A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Cognitive impairment with or without cerebellar ataxia, 614306 Epileptic encephalopathy, early infantile, 13, 614558 Tags
Red Red List (low evidence)	SCN9A	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Erythermalgia, primary, 133020 Paroxysmal extreme pain disorder, 167400, Insensitivity to pain, congenital, 243000 Febrile seizures, familial, 3B, 613863 Epilepsy, generalized, with febrile seizures plus, type 7, 613863 Small fiber neuropathy, 133020 {Dravet syndrome, modifier of}, 607208 HSAN2D, autosomal recessive, 243000 Tags
Red Red List (low evidence)	SCO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Hepatic failure, early onset, and neurologic disorder Mitochondrial complex IV deficiency Tags
Red Red List (low evidence)	SCO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 Myopia 6, 608908 Tags
Red Red List (low evidence)	SDHA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Leigh syndrome, 256000 Mitochondrial respiratory chain complex II deficiency, 252011 Cardiomyopathy, dilated, 1GG, 613642 Paragangliomas 5, 614165 Tags
Red Red List (low evidence)	SDHAF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Mitochondrial complex II deficiency, 252011 Tags
Red Red List (low evidence)	SETBP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Schinzel-Giedion midface retraction syndrome, 269150 Mental retardation, autosomal dominant 29, 616078 Tags
Red Red List (low evidence)	SETD5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Tags
Red Red List (low evidence)	SETX	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Ataxia-ocular apraxia-2, 606002 Amyotrophic lateral sclerosis 4, juvenile, 602433 Tags
Red Red List (low evidence)	SF3B4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Acrofacial dysostosis 1, Nager type, 154400 Tags
Red Red List (low evidence)	SGCE	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Dystonia-11, myoclonic, 159900 Tags
Red Red List (low evidence)	SGSH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Mucopolysaccharidisis type IIIA (Sanfilippo A), 252900 Tags
Red Red List (low evidence)	SH3TC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Charcot-Marie-Tooth disease, type 4C, 601596 Mononeuropathy of the median nerve, mild, 613353 Tags
Red Red List (low evidence)	SHANK3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Phelan-McDermid syndrome, 606232 {Schizophrenia 15}, 613950 Rett syndrome (RTT) Tags
Red Red List (low evidence)	SHH	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Holoprosencephaly-3, 142945 Single median maxillary central incisor, 147250 Microphthalmia with coloboma 5, 611638 Schizencephaly, 269160 Tags
Red Red List (low evidence)	SHOC2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Noonan-like syndrome with loose anagen hair, 607721 Tags
Red Red List (low evidence)	SIGMAR1	1 review 1 green	Other - please specify in evaluation comments	Sources BRIDGE Phenotypes Amyotrophic lateral sclerosis 16, juvenile, 614373 Tags
Red Red List (low evidence)	SIK1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Tags
Red Red List (low evidence)	SIL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Marinesco-Sjogren syndrome, 248800 Tags
Red Red List (low evidence)	SIX3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Holoprosencephaly-2, 157170 Schizencephaly, 269160 Tags
Red Red List (low evidence)	SKI	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Shprintzen-Goldberg syndrome, 182212 Tags
Red Red List (low evidence)	SLC12A6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Agenesis of the corpus callosum with peripheral neuropathy, 218000 Tags
Red Red List (low evidence)	SLC13A5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Epileptic encephalopathy, early infantile, 25, 615905 Tags
Red Red List (low evidence)	SLC16A2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Allan-Herndon-Dudley syndrome, 300523 Tags
Red Red List (low evidence)	SLC17A5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Salla disease, 604369 Sialic acid storage disorder, infantile, 269920 Tags
Red Red List (low evidence)	SLC19A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 Tags
Red Red List (low evidence)	SLC20A2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Basal ganglia calcification, idiopathic, 1, 213600 Tags
Red Red List (low evidence)	SLC22A5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Carnitine deficiency, systemic primary, 212140 Tags
Red Red List (low evidence)	SLC25A15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 Tags
Red Red List (low evidence)	SLC25A20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Carnitine-acylcarnitine translocase deficiency, 212138 Tags
Red Red List (low evidence)	SLC25A22	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Epileptic encephalopathy, early infantile, 3, 609304 Tags
Red Red List (low evidence)	SLC2A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes GLUT1 deficiency syndrome 1, 606777 GLUT1 deficiency syndrome 2, 612126 {Epilepsy, idiopathic generalized, suscpetibility to, 12}, 614847 Dystonia 9, 601042 Tags
Red Red List (low evidence)	SLC2A10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Arterial tortuosity syndrome, 208050 Tags
Red Red List (low evidence)	SLC2A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes {Diabetes mellitus, noninsulin-dependent}, 135853 Fanconi-Bickel syndrome, 227810 Tags
Red Red List (low evidence)	SLC33A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Spastic paraplegia 42, autosomal dominant, 612539 Congenital cataracts, hearing loss, and neurodegeneration, 614482 Tags
Red Red List (low evidence)	SLC35A2	1 review 1 green	Other - please specify in evaluation comments	Sources BRIDGE Phenotypes Congenital disorder of glycosylation, type IIm, 300896 Tags
Red Red List (low evidence)	SLC35C1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Congenital disorder of glycosylation, type IIc, 266265 Tags
Red Red List (low evidence)	SLC46A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Folate malabsorption, hereditary, 229050 Tags
Red Red List (low evidence)	SLC4A1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Ovalocytosis Spherocytosis, type 4, 612653 [Malaria, resistance to], 611162 Renal tubular acidosis, distal, AD, 179800 Renal tubular acidosis, distal, AR, 611590 [Blood group, Diego], 110500 [Blood group, Waldner], 112010 [Blood group, Wright], 112050 [Blood group, Froese], 601551 [Blood group, Swann], 601550 Tags
Red Red List (low evidence)	SLC4A4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Renal tubular acidosis, proximal, with ocular abnormalities, 604278 Tags
Red Red List (low evidence)	SLC52A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Brown-Vialetto-Van Laere syndrome 1, 211530 Fazio-Londe disease, 211500 Tags
Red Red List (low evidence)	SLC5A5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Thyroid dyshormonogenesis 1, 274400 Tags
Red Red List (low evidence)	SLC6A1	1 review 1 green	Unknown	Sources BRIDGE Tags
Red Red List (low evidence)	SLC6A17	1 review 1 green	Unknown	Sources BRIDGE Tags
Red Red List (low evidence)	SLC6A19	1 review 1 green	Unknown	Sources BRIDGE Phenotypes Hartnup disorder, 234500 Iminoglycinuria, digenic, 242600 Hyperglycinuria, 138500 Tags
Red Red List (low evidence)	SLC6A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes {Nicotine dependence, protection against}, 188890 Parkinsonism-dystonia, infantile, 613135 Tags
Red Red List (low evidence)	SLC6A5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Hyperekplexia 3, 614618 Tags
Red Red List (low evidence)	SLC6A8	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Cerebral creatine deficiency syndrome 1, 300352 Tags
Red Red List (low evidence)	SLC9A6	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Mental retardation, X-linked syndromic, Christianson type, 300243 Tags
Red Red List (low evidence)	SLX4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Fanconi anemia, complementation group P, 613951 Tags
Red Red List (low evidence)	SMARCA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Nicolaides-Baraitser syndrome, 601358 Tags
Red Red List (low evidence)	SMARCA4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes {Rhabdoid tumor predisposition syndrome 2}, 613325 Mental retardation, autosomal dominant 16, 614609 Tags
Red Red List (low evidence)	SMARCAL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Schimke immunoosseous dysplasia, 242900 Tags
Red Red List (low evidence)	SMARCB1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Rhabdoid tumors, somatic, 609322 {Rhabdoid predisposition syndrome 1}, 609322 Mental retardation, autosomal dominant 15, 614608 {Schwannomatosis-1, susceptibility to}, 162091 Tags
Red Red List (low evidence)	SMC1A	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 BRIDGE Phenotypes Cornelia de Lange syndrome 2, 300590 Tags
Red Red List (low evidence)	SMOC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Microphthalmia with limb anomalies, 206920 Tags
Red Red List (low evidence)	SMPD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Niemann-Pick disease, type A, 257200 Niemann-Pick disease, type B, 607616 Tags
Red Red List (low evidence)	SNCA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Parkinson disease 4, 605543 Dementia, Lewy body, 127750 Parkinson disease 1, 168601 Tags
Red Red List (low evidence)	SNRPB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Cerebro-costo-mandibular syndrome Tags
Red Red List (low evidence)	SNX14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Tags
Red Red List (low evidence)	SOS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Fibromatosis, gingival, 135300 Noonan syndrome 4, 610733 Tags
Red Red List (low evidence)	SOX10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Waardenburg syndrome, type 4C, 613266 Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584 PCWH syndrome, 609136 Tags
Red Red List (low evidence)	SOX2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Microphthalmia, syndromic 3, 206900 Optic nerve hypoplasia and abnormalities of the central nervous system, 206900 Tags
Red Red List (low evidence)	SOX3	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 BRIDGE Phenotypes Mental retardation, X-linked, with isolated growth hormone deficiency, 300123 Panhypopituitarism, X-linked, 312000 Tags
Red Red List (low evidence)	SPART	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Troyer syndrome, 275900 Tags
Red Red List (low evidence)	SPAST	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Spastic paraplegia 4, autosomal dominant, 182601 Tags
Red Red List (low evidence)	SPEG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Centronuclear myopathy 5 ( 615959) Tags
Red Red List (low evidence)	SPG11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Spastic paraplegia 11, autosomal recessive, 604360 Tags
Red Red List (low evidence)	SPG21	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Mast syndrome, 248900 Tags
Red Red List (low evidence)	SPG7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Spastic paraplegia 7, autosomal recessive, 607259 Tags
Red Red List (low evidence)	SPR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 Tags
Red Red List (low evidence)	SPRED1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Legius syndrome, 611431 Tags
Red Red List (low evidence)	SPTAN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Epileptic encephalopathy, early infantile, 5, 613477 Tags
Red Red List (low evidence)	SPTBN2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Spinocerebellar ataxia 5, 600224 Spinocerebellar ataxia, autosomal recessive 14, 615386 Tags
Red Red List (low evidence)	SPTLC2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Neuropathy, hereditary sensory and autonomic, type IC, 613640 Tags
Red Red List (low evidence)	SRCAP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Floating-Harbor syndrome, 136140 Tags
Red Red List (low evidence)	SRD5A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Congenital disorder of glycosylation, type Iq, 612379 Kahrizi syndrome, 612713 Tags
Red Red List (low evidence)	ST3GAL3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Mental retardation, autosomal recessive 12, 611090 Epileptic encephalopathy, early infantile, 15, 615006 Tags
Red Red List (low evidence)	ST3GAL5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Amish infantile epilepsy syndrome, 609056 Tags
Red Red List (low evidence)	STAMBP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Microcephaly-capillary malformation syndrome, 614261 Tags
Red Red List (low evidence)	STIL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Microcephaly 7, primary, autosomal recessive, 612703 Tags
Red Red List (low evidence)	STRA6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Microphthalmia, syndromic 9, 601186 Microphthalmia, isolated, with coloboma 8, 601186 Tags
Red Red List (low evidence)	STRADA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 Tags
Red Red List (low evidence)	STS	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Ichthyosis, X-linked, 308100 Tags
Red Red List (low evidence)	STUB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Spinocerebellar ataxia, autosomal recessive 16, 615768 Tags
Red Red List (low evidence)	STX1B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Generalized epilepsy with febrile seizures plus, type 9, 616172 Tags
Red Red List (low evidence)	STXBP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Epileptic encephalopathy, early infantile, 4, 612164 Tags
Red Red List (low evidence)	SUCLG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 Tags
Red Red List (low evidence)	SUMF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Multiple sulfatase deficiency, 272200 Tags
Red Red List (low evidence)	SURF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Leigh syndrome, due to COX deficiency, 256000 Tags
Red Red List (low evidence)	SYNE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Spinocerebellar ataxia, autosomal recessive 8, 610743 Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 Tags
Red Red List (low evidence)	SYNGAP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Mental retardation, autosomal dominant 5, 612621 Tags
Red Red List (low evidence)	SYNJ1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Parkinson disease 20, early-onset, 615530 Tags
Red Red List (low evidence)	SYP	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Mental retardation, X-linked 96, 300802 Tags
Red Red List (low evidence)	TAF1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Dystonia-Parkinsonism, X-linked, 314250 Tags
Red Red List (low evidence)	TARDBP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Amyotrophic lateral sclerosis 10, with or without FTD, 612069 Frontotemporal lobar degeneration, TARDBP-related, 612069 Tags
Red Red List (low evidence)	TAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Tyrosinemia, type II, 276600 Tags
Red Red List (low evidence)	TAZ	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Barth syndrome, 302060 Tags
Red Red List (low evidence)	TBC1D24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Myoclonic epilepsy, infantile, familial, 605021 Epileptic encephalopathy, early infantile, 16, 615338 DOOR syndrome, 220500 Deafness , autosomal recessive 86, 614617 Deafness, autosomal dominant 65, 616044 Tags
Red Red List (low evidence)	TBCE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Kenny-Caffey syndrome-1, 244460 Hypoparathyroidism-retardation-dysmorphism syndrome, 241410 Tags
Red Red List (low evidence)	TBP	1 review 1 green	Other - please specify in evaluation comments	Sources BRIDGE Phenotypes Spinocerebellar ataxia 17, 607136 {Parkinson disease, susceptibility to}, 168600 Tags
Red Red List (low evidence)	TBX1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Conotruncal anomaly face syndrome, 217095 DiGeorge syndrome, 188400 Velocardiofacial syndrome, 192430 Tetralogy of Fallot, 187500 Tags
Red Red List (low evidence)	TBX3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Ulnar-mammary syndrome, 181450 Tags
Red Red List (low evidence)	TCF4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Pitt-Hopkins syndrome, 610954 Tags
Red Red List (low evidence)	TCOF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Treacher Collins syndrome 1, 154500 Tags
Red Red List (low evidence)	TECPR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Spastic paraplegia 49, autosomal recessive, 615031 Tags
Red Red List (low evidence)	TFAP2A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Branchiooculofacial syndrome, 113620 Tags
Red Red List (low evidence)	TFAP2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Char syndrome, 169100 Tags
Red Red List (low evidence)	TFG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Hereditary motor and sensory neuropathy, proximal type, 604484 ?Spastic paraplegia 57, autosomal recessive, 615658 Tags
Red Red List (low evidence)	TGFBR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Loeys-Dietz syndrome, type 1, 609192 {Multiple self-healing squamous epithelioma, susceptiblity to}, 132800 Tags
Red Red List (low evidence)	TGIF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Holoprosencephaly-4, 142946 Tags
Red Red List (low evidence)	TGM6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Spinocerebellar ataxia 35, 613908 Tags
Red Red List (low evidence)	TH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Segawa syndrome, recessive, 605407 Tags
Red Red List (low evidence)	THAP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Dystonia 6, torsion, 602629 Tags
Red Red List (low evidence)	THRA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Hypothyroidism, congenital, nongoitrous, 6, 614450 Tags
Red Red List (low evidence)	TIMM8A	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Deafness, X-linked 1, progressive Mohr-Tranebjaerg syndrome, 304700 Jensen syndrome, 311150 Tags
Red Red List (low evidence)	TK2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 Tags
Red Red List (low evidence)	TMCO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 213980 Tags
Red Red List (low evidence)	TMEM165	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Congenital disorder of glycosylation, type IIk, 614727 Tags
Red Red List (low evidence)	TMEM237	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Joubert syndrome 14, 614424 Tags
Red Red List (low evidence)	TMEM240	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Spinocerebellar ataxia 21, 607454 Tags
Red Red List (low evidence)	TMEM5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, 615041 Tags new-gene-name
Red Red List (low evidence)	TMEM67	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Meckel syndrome 3, 607361 Joubert syndrome 6, 610688 {Bardet-Biedl syndrome 14, modifier of}, 209900 COACH syndrome, 216360 Nephronophthisis 11, 613550 Tags
Red Red List (low evidence)	TMEM70	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 Tags
Red Red List (low evidence)	TOR1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Dystonia-1, torsion, 128100 Dystonia, early-onset atypical, with myoclonic features {Dystonia-1, modifier of} Tags
Red Red List (low evidence)	TP63	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292 Split-hand/foot malformation 4, 605289 Hay-Wells syndrome, 106260 ADULT syndrome, 103285 Limb-mammary syndrome, 603543 Rapp-Hodgkin syndrome, 129400 Orofacial cleft 8, 129400 Tags
Red Red List (low evidence)	TPP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Ceroid lipofuscinosis, neuronal, 2, 204500 Spinocerebellar ataxia, autosomal recessive 7, 609270 Tags
Red Red List (low evidence)	TRAPPC9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Mental retardation, autosomal recessive 13, 613192 Tags
Red Red List (low evidence)	TREX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 Chilblain lupus, 610448 Vasculopathy, retinal, with cerebral leukodystrophy, 192315 {Systemic lupus erythematosus, susceptibility to}, 152700 Tags
Red Red List (low evidence)	TRIM32	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Muscular dystrophy, limb-girdle, type 2H, 254110 ?Bardet-Biedl syndrome 11, 615988 Tags
Red Red List (low evidence)	TRIM37	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Mulibrey nanism, 253250 Tags
Red Red List (low evidence)	TRMT10A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Microcephaly, short stature, and impaired glucose metabolism 1, 616033 Tags
Red Red List (low evidence)	TSC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Tuberous sclerosis-1, 191100 Lymphangioleiomyomatosis, 606690 Focal cortical dysplasia, Taylor balloon cell type, 607341 Tags
Red Red List (low evidence)	TSC2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Tuberous sclerosis-2, 613254 Lymphangioleiomyomatosis, somatic, 606690 Tags
Red Red List (low evidence)	TSEN54	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Pontocerebellar hypoplasia type 2A, 277470 Pontocerebellar hypoplasia type 4, 225753 Tags
Red Red List (low evidence)	TSHB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Hypothryoidism, congenital, nongoitrous 4, 275100 Tags
Red Red List (low evidence)	TSHR	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Hypothyroidism, congenital, nongoitrous, 1 275200 Thyroid adenoma, hyperfunctioning, somatic Hyperthyroidism, nonautoimmune, 609152 Thyroid carcinoma with thyrotoxicosis Hyperthyroidism, familial gestational, 603373 Tags
Red Red List (low evidence)	TSPAN7	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Mental retardation, X-linked 58, 300210 Tags
Red Red List (low evidence)	TTBK2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Spinocerebellar ataxia 11, 604432 Tags
Red Red List (low evidence)	TTC19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes ?Mitochondrial complex III deficiency, nuclear type 2, 615157 Tags
Red Red List (low evidence)	TTC8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Bardet-Biedl syndrome 8, 615985 ?Retinitis pigmentosa 51, 613464 Tags
Red Red List (low evidence)	TTPA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Ataxia with isolated vitamin E deficiency, 277460 Tags
Red Red List (low evidence)	TUBA1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Lissencephaly 3, 611603 Tags
Red Red List (low evidence)	TUBA8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Polymicrogyria with optic nerve hypoplasia, 613180 Tags
Red Red List (low evidence)	TUBB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Cortical dysplasia, complex, with other brain malformations 6, 615771 Tags
Red Red List (low evidence)	TUBB2A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Cortical dysplasia, complex, with other brain malformations 5, 615763 Tags
Red Red List (low evidence)	TUBB2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Polymicrogyria, symmetric or asymmetric, 610031 Tags
Red Red List (low evidence)	TUBB4A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Dystonia 4, torsion, autosomal dominant, 128101 Leukodystrophy, hypomyelinating, 6, 612438 Tags
Red Red List (low evidence)	TUBGCP6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 Tags
Red Red List (low evidence)	TUSC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Mental retardation, autosomal recessive 7, 611093 Tags
Red Red List (low evidence)	TWIST1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Saethre-Chotzen syndrome, 101400 Saethre-Chotzen syndrome with eyelid anomalies, 101400 Craniosynostosis, type 1, 123100 Robinow-Sorauf syndrome, 180750 Tags
Red Red List (low evidence)	TYR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Albinism, oculocutaneous, type IA, 203100 Waardenburg syndrome/albinism, digenic, 103470 Albinism, oculocutaneous, type IB, 606952 [Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800 {Melanoma, cutaneous malignant, susceptibility to, 8}, 601800 [Skin/hair/eye pigmentation 3, blue/green eyes], 601800 Tags
Red Red List (low evidence)	UBE2A	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Mental retardation, X-linked syndromic, Nascimento-type, 300860 Tags
Red Red List (low evidence)	UBE3A	1 review 1 green	Other - please specify in evaluation comments	Sources BRIDGE Phenotypes Angelman syndrome, 105830 Tags
Red Red List (low evidence)	UBE3B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Blepharophimosis-ptosis-intellectual disability syndrome, 615057 Tags
Red Red List (low evidence)	UBR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Johanson-Blizzard syndrome, 243800 Tags
Red Red List (low evidence)	UMPS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Orotic aciduria, 258900 Tags
Red Red List (low evidence)	UPF3B	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Mental retardation, X-linked, syndromic 14, 300676 Tags
Red Red List (low evidence)	UROC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Urocanase deficiency, 276880 Tags
Red Red List (low evidence)	VAMP1	1 review 1 green	Other - please specify in evaluation comments	Sources BRIDGE Phenotypes Spastic ataxia 1, autosomal dominant, 108600 Tags
Red Red List (low evidence)	VDR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Rickets, vitamin D-resistant, type IIA, 277440 ?Osteoporosis, involutional, 166710 Tags
Red Red List (low evidence)	VIPAS39	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 Tags
Red Red List (low evidence)	VLDLR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 Tags
Red Red List (low evidence)	VPS13B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Cohen syndrome, 216550 Tags
Red Red List (low evidence)	VPS35	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Parkinson disease 17, 614203 Tags
Red Red List (low evidence)	WASHC5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Spastic paraplegia 8, autosomal dominant, 603563 Ritscher-Schinzel syndrome, 220210 Tags
Red Red List (low evidence)	WDPCP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes ?Bardet-Biedl syndrome 15, 615992 ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 Tags
Red Red List (low evidence)	WDR45	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 BRIDGE Phenotypes Neurodegeneration with brain iron accululation 5, 300894 Tags
Red Red List (low evidence)	WDR60	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 Tags new-gene-name
Red Red List (low evidence)	WDR62	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 Tags
Red Red List (low evidence)	WNT5A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Robinow syndrome, autosomal dominant, 180700 Tags
Red Red List (low evidence)	WWOX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Esophageal squamous cell carcinoma, somatic, 133239 Spinocrebellar ataxia, autosomal recessive 12, 614322 Epileptic encephalopathy, early infantile, 616211 Tags
Red Red List (low evidence)	XPA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Xeroderma pigmentosum, group A, 278700 Tags
Red Red List (low evidence)	XRCC4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Tags
Red Red List (low evidence)	ZBTB20	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Primrose syndrome, 259050 Tags
Red Red List (low evidence)	ZC4H2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Wieacker-Wolff syndrome, 314580 Tags
Red Red List (low evidence)	ZDHHC9	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Mental retardation, X-linked syndromic, Raymond type, 300799 Tags
Red Red List (low evidence)	ZEB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Mowat-Wilson syndrome, 235730 Tags
Red Red List (low evidence)	ZFP57	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Diabetes mellitus, transient neonatal, 1, 601410 Tags
Red Red List (low evidence)	ZFYVE26	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Spastic paraplegia 15, autosomal recessive, 270700 Tags
Red Red List (low evidence)	ZIC2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE Phenotypes Holoprosencephaly-5, 609637 Tags
Red Red List (low evidence)	ZMPSTE24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE Phenotypes Mandibuloacral dysplasia with type B lipodystrophy, 608612 Restrictive dermopathy, lethal, 275210 Tags
Red Red List (low evidence)	ZNF711	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE Phenotypes Mental retardation, X-linked 97, 300803 Tags

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