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

3 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

981 Entities

981 reviewed, 0 green

List Entity Reviews Mode of inheritance Details
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE
Phenotypes
  • Mitochondrial complex IV deficiency
Tags
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
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BRIDGE
Phenotypes
  • Chondrodysplasia punctata, X-linked recessive, 302950
Tags
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE
Phenotypes
  • Combined oxidative phosphorylation deficiency 7, 613559
  • Spastic paraplegia 55, autosomal recessive, 615035
Tags
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
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • BRIDGE
Phenotypes
  • Intellectual Disability
Tags
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE
Phenotypes
  • Hypomyelination with brainstem and spinal cord involvement and
  • leg spasticity, 615281
Tags
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
1 review
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
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE
Phenotypes
  • ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641
  • Deafness, autosomal recessive 89, 613916
Tags
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE
Phenotypes
  • Goldberg-Shprintzen megacolon syndrome, 609460
Tags
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