PanelApp
  1. Panels
  2. Retinal Disorders Superpanel
Description
This is a superpanel of the retinal disorder panels, and includes genes associated with isolated retinal disorders and optic atrophy, as well as genes where retinal disease/optic atrophy occur as part of a complex or multi-system disorder.

Consider using this panel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.

543 Entities

479 reviewed, 417 green

List Entity Reviews Mode of inheritance Details
543 Entitiess
Green Green List (high evidence)
ABCA4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Macular Degeneration (Dominant)
  • Stargardt disease 1, 248200
  • Macular degeneration, age-related, 2, 153800
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Retinal dystrophy, early-onset severe, 248200
  • Stargardt Disease, Recessive
  • Retinitis pigmentosa 19, 601718
  • Cone-rod dystrophy 3, 604116
  • Macular Dystrophy/Degeneration/Stargardt Disease
  • Fundus flavimaculatus, 248200
Tags
  • deep intronic
Green Green List (high evidence)
ABCA4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Cone-rod dystrophy 3, 604116
Tags
Green Green List (high evidence)
ABCA4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 19, 601718
  • Fundus flavimaculatus, 248200
  • Retinal dystrophy, early-onset severe, 248200
  • Macular degeneration, age-related, 2, 153800
  • Cone-rod dystrophy 3, 604116
  • Stargardt disease 1, 248200
Tags
  • deep intronic
Green Green List (high evidence)
ABCC6
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • RetNet
Phenotypes
  • Pseudoxanthoma elasticum, MIM#264800
Tags
  • SV/CNV
Green Green List (high evidence)
ABHD12
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • RetNet
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa andCataract (PHARC)
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857
Tags
Green Green List (high evidence)
ABHD12
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • nonsyndromic retinitis pigmentosa
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857
Tags
Green Green List (high evidence)
ABHD12
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857
  • Usher syndrome type 3
Tags
Green Green List (high evidence)
ACBD5
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • RetNet
  • Expert list
Phenotypes
  • Retinal dystrophy with leukodystrophy (MIM#618863)
Tags
Green Green List (high evidence)
ACO2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • RetNet
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Infantile cerebellar-retinal degeneration, 614559
Tags
Green Green List (high evidence)
ACO2
2 reviews
2 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Optic atrophy 9, MIM# 616289
  • Infantile cerebellar-retinal degeneration, MIM# 614559
Tags
Green Green List (high evidence)
ADAM9
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cone-rod dystrophy 9, 612775
Tags
Green Green List (high evidence)
ADAMTS18
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • RetNet
Phenotypes
  • microcornea-myopic chorioretinal atrophy (MONDO:0014195)
Tags
Green Green List (high evidence)
ADGRV1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Usher syndrome, type 2C, MIM# 605472
Tags
Green Green List (high evidence)
AFG3L2
3 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Optic atrophy 12, MIM# 618977
Tags
Green Green List (high evidence)
AFG3L2
2 reviews
2 green 		Unknown
Sources
  • Expert Review Green
  • Expert list
  • RetNet
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
AGBL5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 75 617023
Tags
Green Green List (high evidence)
AHI1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • nonsyndromic retinitis pigmentosa
  • Joubert syndrome 17
Tags
Green Green List (high evidence)
AHI1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • RetNet
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 17
Tags
Green Green List (high evidence)
AIPL1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • AIPL1-related retinopathy (MONDO:0100438)
Tags
Green Green List (high evidence)
AIPL1
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Leber congenital amaurosis 4, 604393
  • Cone-rod dystrophy, 604393
  • Retinitis pigmentosa, juvenile, 604393
Tags
Green Green List (high evidence)
AIRE
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300
Tags
Green Green List (high evidence)
ALMS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Alstrom syndrome, MIM# 203800
Tags
Green Green List (high evidence)
ALMS1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • RetNet
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Alstrom syndrome
Tags
Green Green List (high evidence)
ALPK1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache (ROSAH) syndrome, MIM#614979
Tags
Green Green List (high evidence)
AMACR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Alpha-methylacyl-CoA racemase deficiency, MIM# 614307
Tags
Green Green List (high evidence)
ANTXR1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • GAPO syndrome, MIM# 230740
Tags
Green Green List (high evidence)
AP3B2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Early-onset epileptic encephalopathy with optic atrophy, MIM#617276
Tags
Green Green List (high evidence)
AP5M1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hereditary macular dystrophy MONDO:0020242, AP-5 complex-related
Tags
Green Green List (high evidence)
AP5Z1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hereditary macular dystrophy MONDO:0020242
Tags
Green Green List (high evidence)
ARHGEF18
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 78 617433
Tags
Green Green List (high evidence)
ARL13B
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 8 MIM#612291
Tags
Green Green List (high evidence)
ARL2BP
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa with or without situs inversus, 615434
Tags
Green Green List (high evidence)
ARL2BP
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Retinitis pigmentosa 82 with or without situs inversus, MIM# 615434
Tags
Green Green List (high evidence)
ARL3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Joubert syndrome 35 MIM#618161
Tags
Green Green List (high evidence)
ARL6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 3, MIM# 600151
Tags
Green Green List (high evidence)
ARSG
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Usher syndrome, type IV, 618144
Tags
Green Green List (high evidence)
ATAD3A
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Harel-Yoon syndrome, MIM#617183
Tags
Green Green List (high evidence)
ATF6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Achromatopsia 7 MIM#616517
Tags
Green Green List (high evidence)
ATG7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spinocerebellar ataxia, SCAR31, MIM#619422
Tags
Green Green List (high evidence)
ATOH7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Persistent hyperplastic primary vitreous, autosomal recessive, MIM# 221900
  • microphthalmia
  • cataract
  • glaucoma
  • congenital retinal nonattachment
Tags
Green Green List (high evidence)
ATXN7_SCA7_CAG
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spinocerebellar ataxia 7 MIM#164500
Tags
Green Green List (high evidence)
BBIP1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Bardet-Biedl syndrome 18, MIM#615995
Tags
Green Green List (high evidence)
BBS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 1, MIM# 209900
Tags
Green Green List (high evidence)
BBS1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa
Tags
Green Green List (high evidence)
BBS10
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 10, MIM# 615987
Tags
Green Green List (high evidence)
BBS12
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 12, MIM# 615989
Tags
Green Green List (high evidence)
BBS2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Bardet-Biedl syndrome 2
  • Retinitis pigmentosa 74
Tags
Green Green List (high evidence)
BBS2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 2, MIM# 615981
Tags
Green Green List (high evidence)
BBS4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 4, MIM#615982
  • MONDO:0014433
Tags
Green Green List (high evidence)
BBS5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 5, MIM#615983
  • MONDO:0014434
Tags
Green Green List (high evidence)
BBS7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 7, MIM# 615984
  • MONDO:0014435
Tags
Green Green List (high evidence)
BBS9
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 9, MIM#615986
  • MONDO:0014437
Tags
Green Green List (high evidence)
BEST1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 1
  • Maculopathy, bull's-eye
  • Best Vitelliform Macular Dystrophy
  • Best macular dystrophy, 153700
  • Vitreoretinochoroidopathy, 193220
  • Retinitis pigmentosa
  • Retinitis Pigmentosa, Recessive
  • Bestrophinopathy, 611809
  • Vitelliform macular dystrophy, adult-onset, 608161
Tags
Green Green List (high evidence)
BEST1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 1
  • Maculopathy, bull's-eye
  • Best Vitelliform Macular Dystrophy
  • Best macular dystrophy, 153700
  • Vitreoretinochoroidopathy, 193220
  • Retinitis pigmentosa
  • Retinitis Pigmentosa, Recessive
  • Bestrophinopathy, 611809
  • Vitelliform macular dystrophy, adult-onset, 608161
Tags
Green Green List (high evidence)
BEST1
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Best macular dystrophy, 153700
  • Vitelliform macular dystrophy, adult-onset, 608161
  • Vitreoretinochoroidopathy, 193220
  • Bestrophinopathy, 611809
  • Maculopathy, bull's-eye
  • Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 1
Tags
Green Green List (high evidence)
BEST1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Vitreoretinochoroidopathy, MIM# 193220
Tags
Green Green List (high evidence)
BLOC1S1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder (MONDO:0700092), BLOC1S1-related
Tags
Green Green List (high evidence)
BORCS5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lysosomal storage disease, MONDO:0002561, BORCS5-related
Tags
Green Green List (high evidence)
BORCS8
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, MIM# 620987
Tags
Green Green List (high evidence)
C12orf65
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 7
  • Spastic paraplegia 55, autosomal recessive
Tags
  • new gene name
Green Green List (high evidence)
C19orf12
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • ?Spastic paraplegia 43, autosomal recessive 61504
  • Neurodegeneration with brain iron accumulation 4 614298
Tags
Green Green List (high evidence)
C19orf44
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Late onset retinal dystrophy, MONDO:0019118
Tags
Green Green List (high evidence)
C1QTNF5
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinal degeneration, late-onset, autosomal dominant MIM#605670
Tags
Green Green List (high evidence)
C1QTNF5
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Retinal degeneration, late-onset, autosomal dominant, 605670
  • Retinitis pigmentosa
Tags
Green Green List (high evidence)
C21orf2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinal dystrophy with macular staphyloma, 617547
Tags
  • new gene name
Green Green List (high evidence)
C2orf71
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 54
Tags
  • new gene name
Green Green List (high evidence)
C8orf37
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Retinitis pigmentosa 64, 614500
Tags
Green Green List (high evidence)
C8orf37
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cone-rod dystrophy 16, 614500
  • Retinitis pigmentosa 64, 614500
Tags
Green Green List (high evidence)
CABP4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Night blindness, congenital stationary (incomplete), 2B, autosomal recessive, 610427
Tags
Green Green List (high evidence)
CACNA1F
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • X-linked retinitis pigmentosa
Tags
Green Green List (high evidence)
CACNA1F
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cone-rod dystropy, X-linked, 3, 300476
  • Aland Island eye disease, 300600
  • Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071
Tags
Green Green List (high evidence)
CACNA1F
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cone-rod dystropy, X-linked, 3, 300476
Tags
Green Green List (high evidence)
CACNA2D4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinal cone dystrophy 4, 610478
  • Congenital Stationary Night Blindness
Tags
Green Green List (high evidence)
CACNA2D4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinal cone dystrophy 4, 610478
Tags
Green Green List (high evidence)
CAPN5
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Vitreoretinopathy, neovascular inflammatory, MIM# 193235
Tags
Green Green List (high evidence)
CC2D2A
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • RetNet
Phenotypes
  • COACH syndrome, MIM#216360
  • Joubert syndrome 9, MIM#612285
  • Meckel syndrome 6, MIM#612284
  • Retinitis pigmentosa 93, MIM# 619845
Tags
Green Green List (high evidence)
CDH23
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Usher syndrome, type 1D 601067
  • Usher syndrome, type 1D/F digenic 601067
Tags
Green Green List (high evidence)
CDH3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280
  • Hypotrichosis, congenital, with juvenile macular dystrophy, 601553
Tags
Green Green List (high evidence)
CDHR1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Genetic macular dystrophy MONDO:0020242
Tags
Green Green List (high evidence)
CDHR1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Cone-Rod Dystrophy, Recessive
  • Retinitis pigmentosa 65
  • Cone-rod dystrophy 15, 613660
Tags
Green Green List (high evidence)
CDHR1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cone-rod dystrophy 15, 613660
Tags
Green Green List (high evidence)
CDK9
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome MONDO:0015160
  • CHARGE-like syndrome with retinal dystrophy
Tags
Green Green List (high evidence)
CEP164
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • RetNet
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CEP164
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Bardet-Biedl syndrome
Tags
Green Green List (high evidence)
CEP250
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Usher-like disease
  • Cone-rod dystrophy and hearing loss 2, 618358
Tags
Green Green List (high evidence)
CEP290
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Senior-Loken syndrome 6, 610189
  • Meckel syndrome 4, 611134
  • Leber congenital amaurosis 10, 611755
  • Joubert syndrome 5, 610188
  • Bardet-Biedl syndrome 14, 209900
Tags
Green Green List (high evidence)
CEP290
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • RetNet
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Meckel syndrome 4, 611134
  • Senior-Loken syndrome 6, 610189
  • Bardet-Biedl syndrome 14, 209900
  • Leber congenital amaurosis 10, 611755
  • Joubert syndrome 5, 610188
Tags
Green Green List (high evidence)
CEP290
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 14, MIM# 615991
Tags
Green Green List (high evidence)
CEP76
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • complex neurodevelopmental disorder MONDO:0100038
  • Joubert syndrome
  • Bardet-Biedl syndrome
  • retinitis pigmentosa
Tags
Green Green List (high evidence)
CEP78
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert list
Phenotypes
  • Cone-Rod Dystrophy and Hearing Loss, 617236
Tags
Green Green List (high evidence)
CEP83
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Nephronophthisis 18, MIM# 615862
  • MONDO:0014374
  • Retinal dystrophy
  • ID
Tags
Green Green List (high evidence)
CERKL
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cone-rod dystrophy
Tags
Green Green List (high evidence)
CERKL
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Retinitis pigmentosa 26, 608380
Tags
Green Green List (high evidence)
CERKL
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 26, MIM# 608380
Tags
Green Green List (high evidence)
CFAP20
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Retinitis pigmentosa (MONDO:0019200), CFAP20-related
Tags
Green Green List (high evidence)
CFH
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Basal laminar drusen, 126700
Tags
Green Green List (high evidence)
CHM
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Choroideremia (degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye)
Tags
Green Green List (high evidence)
CHM
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa
  • Choroideremia (degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye)
Tags
Green Green List (high evidence)
CISD2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Wolfram syndrome 2, MIM#604928
Tags
Green Green List (high evidence)
CLCN2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukoencephalopathy with ataxia MIM# 615651
Tags
Green Green List (high evidence)
CLEC3B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Macular dystrophy, retinal, 4, OMIM #619977
Tags
  • founder
Green Green List (high evidence)
CLN3
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • RetNet
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Juvenile neuronal ceroid lipofuscinosis
  • Retinitis pigmentosa
Tags
Green Green List (high evidence)
CLN3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa
  • Juvenile neuronal ceroid lipofuscinosis
Tags
Green Green List (high evidence)
CLN5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 5 OMIM #256731
Tags
Green Green List (high evidence)
CLN6
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert Review
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 6 OMIM #601780
Tags
Green Green List (high evidence)
CLN8
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert Review
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 8 OMIM #600143
Tags
Green Green List (high evidence)
CLRN1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Usher syndrome, type 3A, 276902
  • Retinitis pigmentosa 61, 614180
Tags
Green Green List (high evidence)
CLRN1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 61, 614180
Tags
Green Green List (high evidence)
CNGA1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 49, 613756
Tags
Green Green List (high evidence)
CNGA3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Achromatopsia 2 MIM#216900
Tags
Green Green List (high evidence)
CNGA3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Achromatopsia 2MIM#216900
Tags
Green Green List (high evidence)
CNGB1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 45, MIM#613767
Tags
Green Green List (high evidence)
CNGB3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Achromatopsia-3, 262300
Tags
Green Green List (high evidence)
CNGB3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Macular degeneration, juvenile, 248200 -3
  • Achromatopsia-3, 262300
  • Stargardt Disease, Recessive
Tags
Green Green List (high evidence)
CNGB3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Achromatopsia 3 MIM#262300
Tags
Green Green List (high evidence)
CNNM4
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Jalili syndrome MIM#217080
Tags
Green Green List (high evidence)
COL11A1
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Stickler syndrome, type II, MIM# 604841, MONDO:0011493
Tags
Green Green List (high evidence)
COL11A1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • RetNet
  • Expert Review Green
Phenotypes
  • Stickler syndrome, type II, MIM#604841
Tags
Green Green List (high evidence)
COL11A2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Stickler syndrome type 3
Tags
Green Green List (high evidence)
COL18A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Knobloch syndrome, type 1, MIM# 267750
Tags
Green Green List (high evidence)
COL2A1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Stickler syndrome, type I, MIM# 108300
Tags
Green Green List (high evidence)
COL2A1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • RetNet
  • Expert Review Green
Phenotypes
  • Stickler syndrome, type I
Tags
Green Green List (high evidence)
COL9A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Stickler syndrome, type IV, MIM# 614134
Tags
Green Green List (high evidence)
COL9A2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Stickler syndrome, type V, MIM# 614284
Tags
Green Green List (high evidence)
COL9A3
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Other
Phenotypes
  • Stickler syndrome, type VI, MIM# 620022
  • Deafness, AD
  • Peripheral vitreoretinal degeneration and retinal detachment, AD
Tags
Green Green List (high evidence)
COQ8B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Retinitis pigmentosa MONDO:0019200
Tags
Green Green List (high evidence)
CRB1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Pigmented paravenous chorioretinal atrophy, 172870
  • Leber congenital amaurosis 8, 613835
  • Retinitis pigmentosa-12, autosomal recessive, 600105
Tags
Green Green List (high evidence)
CRB1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Pigmented paravenous chorioretinal atrophy, 172870
  • Leber congenital amaurosis 8, 613835
  • Retinitis pigmentosa-12, autosomal recessive, 600105
Tags
Green Green List (high evidence)
CRB1
1 review
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Pigmented paravenous chorioretinal atrophy, 172870
  • Leber congenital amaurosis 8, 613835
  • Retinitis pigmentosa-12, autosomal recessive, 600105
Tags
Green Green List (high evidence)
CRX
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cone-rod retinal dystrophy-2, 120970
  • Leber congenital amaurosis 7, 613829
Tags
Green Green List (high evidence)
CRX
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cone-rod retinal dystrophy-2, 120970
Tags
Green Green List (high evidence)
CSPP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • RetNet
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Genetic Retinal Degeneration Conditions
  • Joubert syndrome 21
Tags
Green Green List (high evidence)
CTC1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Cerebroretinal microangiopathy with calcifications and cysts MIM#612199
Tags
Green Green List (high evidence)
CTNNA1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Macular dystrophy, butterfly-shaped pigmentary, 2, MIM#608970
Tags
Green Green List (high evidence)
CTNNA1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Familial exudative vitreoretinopathy
Tags
Green Green List (high evidence)
CTNNB1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Exudative vitreoretinopathy 7, MIM# 617572
  • Neurodevelopmental disorder with spastic diplegia and visual defects, MIM# 615075
Tags
Green Green List (high evidence)
CTNNB1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Neurodevelopmental disorder with spastic diplegia and visual defects, MIM# 615075
Tags
Green Green List (high evidence)
CTSD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 10, OMIM #610127
Tags
Green Green List (high evidence)
CTSF
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert Review
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM #615362
Tags
Green Green List (high evidence)
CWC27
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa with or without skeletal anomalies, 250410
Tags
Green Green List (high evidence)
CYP2U1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Spastic paraplegia 56, autosomal recessive, OMIM:615030
Tags
Green Green List (high evidence)
CYP4V2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa
  • Bietti crystalline corneoretinal dystrophy, 210370
Tags
Green Green List (high evidence)
DHDDS
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Congenital disorder of glycosylation, type 1bb, MIM# 613861
Tags
Green Green List (high evidence)
DNAJC30
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Leber Hereditary Optic Neuropathy, MIM#619382
Tags
Green Green List (high evidence)
DNM1L
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Optic atrophy 5 (MIM#610708)
Tags
Green Green List (high evidence)
DRAM2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Cone-rod dystrophy 21, MIM#616502
Tags
Green Green List (high evidence)
DYNC2H1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • non-syndromic retinitis pigmentosa
Tags
Green Green List (high evidence)
EFEMP1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Doyne honeycomb retinal dystrophy MONDO:0007471
Tags
Green Green List (high evidence)
ELOVL4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110
  • Stargardt disease 3, 600110
  • Ichthyosis, spastic quadriplegia, and mental retardation, 614457
Tags
Green Green List (high evidence)
ERCC6
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cockayne syndrome, type B MIM#133540
Tags
Green Green List (high evidence)
ERCC8
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Cockayne syndrome, type A MIM#216400
Tags
Green Green List (high evidence)
EYS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 25, 602772
Tags
Green Green List (high evidence)
FAM161A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 28, 606068
  • Retinitis pigmentosa 28 MONDO:0011630
Tags
Green Green List (high evidence)
FAM57B
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cone-rod dystrophy 22, MIM# 619531
  • Maculopathy
Tags
  • new gene name
Green Green List (high evidence)
FAM57B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Cone-rod dystrophy 22, MIM# 619531
  • Maculopathy
Tags
  • new gene name
Green Green List (high evidence)
FDXR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Auditory neuropathy and optic atrophy, MIM#617717
Tags
Green Green List (high evidence)
FLVCR1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • RetNet
  • Expert Review Green
Phenotypes
  • Ataxia, posterior column, with retinitis pigmentosa, 609033
Tags
Green Green List (high evidence)
FLVCR1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • neurodevelopmental disorder MONDO:0700092, FLVCR1-related
Tags
Green Green List (high evidence)
FLVCR1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Ataxia, posterior column, with retinitis pigmentosa, 609033
Tags
Green Green List (high evidence)
FZD4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Exudative vitreoretinopathy 1, MIM# 133780
Tags
Green Green List (high evidence)
GNAT1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Night blindness, congenital stationary, autosomal dominant 3, 610444
Tags
Green Green List (high evidence)
GNAT2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Achromatopsia 4 MIM#613856
Tags
Green Green List (high evidence)
GNB3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Night blindness, congenital stationary, type 1H, MIM# 617024
Tags
Green Green List (high evidence)
GNPTG
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • RetNet
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mucolipidosis III gamma
  • Genetic Retinal Degeneration Conditions
Tags
Green Green List (high evidence)
GPATCH11
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, GPATCH11-related
  • Leber congenital amaurosis and developmental delay
Tags
Green Green List (high evidence)
GPR179
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565
Tags
Green Green List (high evidence)
GRK1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Oguchi disease-2, 613411
Tags
Green Green List (high evidence)
GRM6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270
Tags
Green Green List (high evidence)
GRN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 11, OMIM #614706
Tags
Green Green List (high evidence)
GUCA1A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cone dystrophy-3, MIM# 602093
  • Cone-rod dystrophy 14, MIM# 602093
Tags
Green Green List (high evidence)
GUCY2D
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Cone-rod dystrophy 6 (AD)
  • Leber congenital amaurosis 1, 204000
  • Retinitis pigmentosa
Tags
Green Green List (high evidence)
GUCY2D
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cone-rod dystrophy 6 MIM#601777
Tags
Green Green List (high evidence)
GZF1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Joint laxity, short stature, and myopia, MIM# 617662
Tags
Green Green List (high evidence)
HCCS
1 review
1 green 		Other
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Linear skin defects with multiple congenital anomalies 1, MIM# 309801
Tags
Green Green List (high evidence)
HGSNAT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 73
Tags
Green Green List (high evidence)
HGSNAT
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • RetNet
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Retinitis pigmentosa 73
Tags
Green Green List (high evidence)
HIKESHI
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leukodystrophy, hypomyelinating, 13, MIM# 616881
Tags
Green Green List (high evidence)
HK1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 79, MIM# 617460
Tags
Green Green List (high evidence)
HMX1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • RetNet
Phenotypes
  • Oculoauricular syndrome, MIM#612109
Tags
Green Green List (high evidence)
IDH3A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa, MIM#619007
  • Leber congenital amaurosis
Tags
Green Green List (high evidence)
IDH3B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Retinitis pigmentosa 46, 612572
Tags
Green Green List (high evidence)
IDH3G
2 reviews
2 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Retinitis pigmentosa 99, MIM# 301148
Tags
Green Green List (high evidence)
IFT140
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 80, MIM# 617781
Tags
Green Green List (high evidence)
IFT140
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • RetNet
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Retinitis pigmentosa 80
Tags
Green Green List (high evidence)
IFT172
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 20, MIM# 619471
Tags
Green Green List (high evidence)
IFT172
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 71, MIM#616394
Tags
Green Green List (high evidence)
IFT27
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Bardet-Biedl syndrome 19, MIM#615996
Tags
Green Green List (high evidence)
IFT74
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Bardet-Biedl syndrome 20, MIM# 617119
Tags
Green Green List (high evidence)
IKBKG
1 review
1 green 		Other
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Incontinentia pigmenti, MIM# 308300
Tags
Green Green List (high evidence)
IMPDH1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 10, 180105
  • Leber Congenital Amaurosis
  • Leber congenital amaurosis 11
Tags
Green Green List (high evidence)
IMPG1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Macular dystrophy, vitelliform, 4, OMIM:616151
  • Retinitis pigmentosa, MONDO:0019200
Tags
Green Green List (high evidence)
IMPG1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Retinitis pigmentosa, MONDO:0019200
Tags
Green Green List (high evidence)
IMPG2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 56, 613581
  • Maculopathy, IMPG2 - related
  • Retinitis pigmentosa
Tags
Green Green List (high evidence)
IMPG2
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Retinitis pigmentosa 56
  • Maculopathy, IMPG2 - related
Tags
Green Green List (high evidence)
INPP5E
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • RetNet
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
INTS11
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, MIM# 620428
Tags
Green Green List (high evidence)
IQCB1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • RetNet
Phenotypes
  • Leber congenital amaurosis
  • Senior-Loken syndrome 5, MIM# 609254
  • MONDO:0012225
Tags
Green Green List (high evidence)
JAG1
2 reviews
1 green 		Unknown
Sources
  • Expert Review Green
  • Literature
  • RetNet
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
KCNJ13
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leber congenital amaurosis 16 MIM#614186
Tags
Green Green List (high evidence)
KCNV2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinal cone dystrophy 3B MIM#610356
Tags
Green Green List (high evidence)
KIAA1549
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • retinitis pigmentosa 86 MONDO:0032834
Tags
Green Green List (high evidence)
KIF11
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • RetNet
Phenotypes
  • Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950
  • MONDO:0007918
Tags
Green Green List (high evidence)
KIF11
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, MIM# 152950
Tags
Green Green List (high evidence)
KIF5A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • myoclonus, intractable, neonatal MONDO:0014979
  • Leber hereditary optic neuropathy MONDO:0010788
Tags
Green Green List (high evidence)
KIZ
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 69, MIM# 615780
Tags
Green Green List (high evidence)
KLC2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spastic paraplegia, optic atrophy, and neuropathy MIM#609541
Tags
  • SV/CNV
Green Green List (high evidence)
KLHL7
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 42, 612943
Tags
Green Green List (high evidence)
LAMA1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • RetNet
Phenotypes
  • Poretti-Boltshauser syndrome, MIM# 615960
Tags
Green Green List (high evidence)
LCA5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Leber congenital amaurosis 5, 604537
Tags
Green Green List (high evidence)
LETM1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089
Tags
Green Green List (high evidence)
LOXL3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • Stickler syndrome, MONDO:0019354, LOXL3-related
Tags
Green Green List (high evidence)
LRAT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Leber Congenital Amaurosis
  • Leber congenital amaurosis 14
  • Retinitis pigmentosa, juvenile
  • Retinal dystrophy, early-onset severe, 613341
Tags
Green Green List (high evidence)
LRIT3
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058
Tags
Green Green List (high evidence)
LRP2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Donnai-Barrow syndrome MIM#222448
Tags
Green Green List (high evidence)
LRP5
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • RetNet
  • Expert Review Green
Phenotypes
  • Exudative vitreoretinopathy 4
Tags
Green Green List (high evidence)
LRP5
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Exudative vitreoretinopathy 4, MIM# 601813
Tags
Green Green List (high evidence)
LZTFL1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 17 (MIM#615994)
Tags
Green Green List (high evidence)
MAK
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 62, 614181
Tags
Green Green List (high evidence)
MAN2B1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mannosidosis, alpha-, types I and II, MIM# 248500
Tags
Green Green List (high evidence)
MCOLN1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mucolipidosis IV, MIM# 252650
  • MONDO:0009653
Tags
Green Green List (high evidence)
MECR
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Optic atrophy 16, MIM# 620629
Tags
Green Green List (high evidence)
MED12
3 reviews
3 green 		Other
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hardikar syndrome, MIM# 301068
Tags
Green Green List (high evidence)
MERTK
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 38, MIM# 613862
Tags
Green Green List (high evidence)
MFF
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Encephalopathy due to defective mitochondrial and peroxisomal fission 2
Tags
Green Green List (high evidence)
MFN2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2A2A, MIM# 609260
  • Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 61708, Hereditary motor and sensory neuropathy VIA, MIM# 601152
Tags
Green Green List (high evidence)
MFRP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen
Tags
Green Green List (high evidence)
MFSD8
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 7, 610951
  • Macular dystrophy with central cone involvement, 616170
Tags
Green Green List (high evidence)
MFSD8
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 7 OMIM #610951
Tags
Green Green List (high evidence)
MKKS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 6 (MIM#605231)
Tags
Green Green List (high evidence)
MKS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 13, MIM# 615990
  • MONDO:0014441
Tags
Green Green List (high evidence)
MKS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • RetNet
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
MMACHC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblC type MIM#277400
Tags
  • treatable
Green Green List (high evidence)
MORC2
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090
Tags
Green Green List (high evidence)
MSTO1
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Myopathy, mitochondrial, and ataxia MIM#617675
Tags
Green Green List (high evidence)
MTTP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • RetNet
Phenotypes
  • Abetalipoproteinemia, MIM# 200100
Tags
  • treatable
Green Green List (high evidence)
MYO7A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Usher syndrome, type 1B, 276900
Tags
Green Green List (high evidence)
NBAS
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Short stature, optic nerve atrophy, and Pelger-Huet anomaly
Tags
Green Green List (high evidence)
NDP
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Exudative vitreoretinopathy 2, X-linked, MIM# 305390
  • Norrie disease, MIM# 310600
Tags
Green Green List (high evidence)
NDUFA12
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • isolated optic atrophy
  • MONDO:0003608
Tags
Green Green List (high evidence)
NDUFS2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228
  • Leber hereditary optic neuropathy, autosomal recessive 2, MIM# 620569
Tags
Green Green List (high evidence)
NEUROD1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa
  • Retinopathy
  • Permanent neonatal diabetes
Tags
Green Green List (high evidence)
NMNAT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leber congenital amaurosis 9 MIM#608553
Tags
Green Green List (high evidence)
NPHP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • RetNet
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
NPHP3
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • RetNet
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
NPHP4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • RetNet
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
NR2E3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • retinitis pigmentosa MONDO:0019200
Tags
Green Green List (high evidence)
NR2E3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Enhanced S-cone syndrome, MIM# 268100
Tags
Green Green List (high evidence)
NR2E3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • retinitis pigmentosa 37 MONDO:0012625
Tags
Green Green List (high evidence)
NR2F1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722
Tags
Green Green List (high evidence)
NRL
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 27, MIM#613750
  • retinitis pigmentosa 27 MONDO:0013402
Tags
Green Green List (high evidence)
NRL
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Enhanced S-cone syndrome 2, MIM# 621371
Tags
Green Green List (high evidence)
NYX
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Night blindness, congenital stationary (complete), 1A, X-linked, 310500
Tags
Green Green List (high evidence)
OAT
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Gyrate atrophy of choroid and retina
Tags
Green Green List (high evidence)
OFD1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 23, 300424
  • Joubert syndrome 10, 300804
  • Orofaciodigital syndrome I, 311200Simpson-Golabi-Behmel syndrome, type 2, 300209
Tags
Green Green List (high evidence)
OFD1
2 reviews
2 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert Review Green
  • RetNet
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Retinitis pigmentosa 23, 300424
  • Orofaciodigital syndrome I, 311200Simpson-Golabi-Behmel syndrome, type 2, 300209
  • Joubert syndrome 10, 300804
Tags
Green Green List (high evidence)
OPA1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Optic atrophy 1 165500
  • Optic atrophy plus syndrome, MIM# 125250
  • Behr syndrome, MIM# 210000
Tags
Green Green List (high evidence)
OPA3
1 review
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • 3-methylglutaconic aciduria, type III (MGA3) (MIM#258501), AR
  • Optic atrophy 3 with cataract (MIM#165300), AD
Tags
Green Green List (high evidence)
OPA3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • RetNet
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Autosomal Dominant Optic Atrophy
Tags
Green Green List (high evidence)
OPN1SW
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Colorblindness, tritan MIM#190900
Tags
Green Green List (high evidence)
OTX2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • autosomal-dominant pattern dystrophy of the retinal pigment epithelium
  • early onset retinal dystrophy
  • Microphthalmia, syndromic 5, 610125
Tags
Green Green List (high evidence)
P3H2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Myopia, high, with cataract and vitreoretinal degeneration MIM#614292
Tags
Green Green List (high evidence)
PANK2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • RetNet
Phenotypes
  • pantothenate kinase-associated neurodegeneration MONDO:0009319
Tags
Green Green List (high evidence)
PAX2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • RetNet
Phenotypes
  • Papillorenal syndrome, MIM# 120330
Tags
Green Green List (high evidence)
PAX6
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Foveal hypoplasia 1 MIM#136520
Tags
Green Green List (high evidence)
PCDH15
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Usher syndrome Type 1F
  • Usher syndrome, type 1D/F digenic
Tags
Green Green List (high evidence)
PCYT1A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • RetNet
Phenotypes
  • Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940
Tags
Green Green List (high evidence)
PDE6A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 43, 613810
Tags
Green Green List (high evidence)
PDE6B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Night blindness, congenital stationary, autosomal dominant 2, 163500
  • Retinitis pigmentosa
Tags
Green Green List (high evidence)
PDE6B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • inherited retinal dystrophy MONDO:0019118
Tags
Green Green List (high evidence)
PDE6B
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Night blindness, congenital stationary, autosomal dominant 2, MIM#163500
Tags
Green Green List (high evidence)
PDE6C
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Achromatopsia-5
  • Cone dystrophy 4, MIM# 613093
Tags
Green Green List (high evidence)
PDE6C
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cone dystrophy 4 MIM#613093
Tags
Green Green List (high evidence)
PDE6H
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Achromatopsia 6 MIM#610024
Tags
Green Green List (high evidence)
PDXK
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Axonal polyneuropathy
  • optic atrophy
Tags
Green Green List (high evidence)
PEX1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • RetNet
  • Expert Review Green
Phenotypes
  • Heimler syndrome 1, 234580
Tags
Green Green List (high evidence)
PEX1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Heimler syndrome 1, 234580
Tags
Green Green List (high evidence)
PEX2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • RetNet
  • Expert Review Green
Tags
Green Green List (high evidence)
PEX26
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Heimler syndrome
Tags
Green Green List (high evidence)
PEX6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Heimler syndrome 2, 616617
Tags
Green Green List (high evidence)
PEX7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • RetNet
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Refsum disease
Tags
Green Green List (high evidence)
PHYH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • RetNet
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Refsum disease
Tags
Green Green List (high evidence)
PLA2G5
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • [Fleck retina, familial benign], MIM# 228980
Tags
Green Green List (high evidence)
PLK4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • RetNet
Phenotypes
  • Microcephaly and chorioretinopathy, autosomal recessive, 2, MIM# 616171
Tags
Green Green List (high evidence)
PLOD3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lysyl hydroxylase 3 deficiency, MIM#612394
  • Stickler-like phenotype with high myopia, midface hypoplasia, microretrognathia
Tags
Green Green List (high evidence)
PNPLA6
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • RetNet
  • Expert list
Phenotypes
  • Retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome MONDO:0100155
Tags
Green Green List (high evidence)
POC1B
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • RetNet
  • Expert Review Green
Phenotypes
  • Cone-rod dystrophy 20, 615973
Tags
Green Green List (high evidence)
POC1B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cone-rod dystrophy 20, 615973
Tags
Green Green List (high evidence)
POC5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ciliopathy, MONDO:0005308, POC5-related
Tags
Green Green List (high evidence)
POLA2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Telomere biology syndrome MONDO:0100137
Tags
Green Green List (high evidence)
POMGNT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 76, MIM#617123
Tags
Green Green List (high evidence)
PPP2R3C
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy, OMIM # 618419
Tags
Green Green List (high evidence)
PPT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 1, MIM#256730
Tags
Green Green List (high evidence)
PQLC2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Retinitis pigmentosa, MONDO:0019200, PQLC2-related
Tags
  • new gene name
Green Green List (high evidence)
PRCD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 36, MIM# 610599
Tags
Green Green List (high evidence)
PRDM13
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Macular dystrophy, North Carolina type, MIM#136550
  • Retinal dystrophy
  • Chorioretinal atrophy, progressive bifocal, MIM# 600790
Tags
  • 5'UTR
  • SV/CNV
Green Green List (high evidence)
PROM1
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Retinitis pigmentosa 41, 612095
  • Cone-rod dystrophy 12, 612657
  • Stargardt disease 4, 603786
  • Macular dystrophy, retinal, 2, 608051
Tags
Green Green List (high evidence)
PROM1
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cone-rod dystrophy 12, 612657
Tags
Green Green List (high evidence)
PROM1
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Stargardt disease 4, 603786
  • Macular dystrophy, retinal, 2, 608051
  • Retinitis pigmentosa 41, 612095
  • Cone-rod dystrophy 12, 612657
Tags
Green Green List (high evidence)
PRPF3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 18, MIM# 601414
Tags
Green Green List (high evidence)
PRPF31
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 11, 600138
Tags
  • SV/CNV
Green Green List (high evidence)
PRPF4
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 70, MIM# 615922
Tags
Green Green List (high evidence)
PRPF8
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 13, MIM#600059
  • PRPF8-related retinopathy MONDO:0700234
Tags
Green Green List (high evidence)
PRPH2
1 review
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • PRPH2-related retinopathy MONDO:1040055
Tags
Green Green List (high evidence)
PRPH2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • PRPH2-related retinopathy MONDO:1040055
Tags
Green Green List (high evidence)
PRPH2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Choroidal dystrophy, central areolar 2 MIM#613105
Tags
Green Green List (high evidence)
PRPH2
1 review
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • PRPH2-related retinopathy MONDO:1040055
Tags
Green Green List (high evidence)
PRPS1
2 reviews
2 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Expert Review
  • Expert Review Green
  • RetNet
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PTCD3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Combined oxidative phosphorylation deficiency-51, MIM#619057
  • Intellectual disability
  • optic atrophy
  • Leigh-like syndrome
Tags
Green Green List (high evidence)
RAB28
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cone-rod dystrophy 18, 615374
Tags
Green Green List (high evidence)
RAX2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cone-rod dystrophy 11, MIM# 610381
Tags
Green Green List (high evidence)
RAX2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Retinitis pigmentosa-95 (RP95), MIM#620102
Tags
Green Green List (high evidence)
RBP3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 66, 615233
Tags
Green Green List (high evidence)
RBP4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Retinal dystrophy, iris coloboma, and comedogenic acne syndrome MIM#615147
Tags
Green Green List (high evidence)
RCBTB1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Retinal dystrophy with or without extraocular anomalies MIM#617175
Tags
Green Green List (high evidence)
RD3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Leber congenital amaurosis 12, 610612
Tags
Green Green List (high evidence)
RDH12
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Leber congenital amaurosis 13, 612712
Tags
Green Green List (high evidence)
RDH12
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Leber congenital amaurosis 13, 612712
  • Retinitis Pigmentosa
Tags
Green Green List (high evidence)
RDH12
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Leber congenital amaurosis 13, 612712
  • RDH12-related recessive retinopathy MONDO:0800099
Tags
Green Green List (high evidence)
RDH5
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Fundus albipunctatus (MIM#136880)
  • Congenital Stationary Night Blindness
Tags
Green Green List (high evidence)
REEP6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 77
Tags
Green Green List (high evidence)
RGS9
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Bradyopsia MIM#608415
Tags
Green Green List (high evidence)
RGS9BP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Bradyopsia MIM#608415
Tags
Green Green List (high evidence)
RHO
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 4, autosomal dominant or recessive, 613731
  • Congenital Stationary Night Blindness
Tags
Green Green List (high evidence)
RHO
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis punctata albescens
  • Retinitis pigmentosa
  • Night blindness, congenital stationary autosomal dominant 1
Tags
Green Green List (high evidence)
RHO
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 4, autosomal dominant or recessive, 613731
  • inherited retinal dystrophy MONDO:0019118
Tags
Green Green List (high evidence)
RIMS2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Literature
Phenotypes
  • Cone-rod synaptic disorder syndrome, congenital nonprogressive, MIM# 618970
Tags
Green Green List (high evidence)
RIMS2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • nystagmus
  • retinal dysfunction
  • autism
  • night blindness
  • Cone-rod synaptic disorder syndrome, congenital nonprogressive , MIM#618970
Tags
Green Green List (high evidence)
RLBP1
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis punctata albescens
  • Newfoundland rod - cone dystrophy
  • Fundus albipunctatus, 136880
  • Fundus albipunctatus
  • Bothnia retinal dystrophy
Tags
Green Green List (high evidence)
RLBP1
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Fundus albipunctatus
  • Newfoundland rod - cone dystrophy
  • Fundus albipunctatus, 136880
  • Bothnia retinal dystrophy
  • Retinitis punctata albescens
Tags
Green Green List (high evidence)
RNU4ATAC
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Roifman syndrome, MIM# 616651
  • Lowry-Wood syndrome, MIM# 226960
Tags
  • non-coding gene
Green Green List (high evidence)
ROM1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 7, digenic, 608133
Tags
Green Green List (high evidence)
RP1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 1, 180100
Tags
Green Green List (high evidence)
RP1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 1, 180100
Tags
Green Green List (high evidence)
RP1L1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Occult macular dystrophy, 613587
Tags
Green Green List (high evidence)
RP1L1
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • retinitis pigmentosa
  • Occult macular dystrophy, 613587
Tags
Green Green List (high evidence)
RP2
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis Pigmentosa, X-linked
  • Retinitis pigmentosa 2, 312600
Tags
Green Green List (high evidence)
RPE65
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 20
  • Leber congenital amaurosis 2, 204100
Tags
Green Green List (high evidence)
RPE65
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 20
  • Leber congenital amaurosis 2, 204100
  • Leber Congenital Amaurosis
  • Leber congenital amaurosis 2
Tags
Green Green List (high evidence)
RPE65
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 20
  • Leber congenital amaurosis 2, 204100
Tags
Green Green List (high evidence)
RPGR
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Retinitis pigmentosa 3, 300029
  • Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455
  • Macular degeneration, X-linked atrophic, 300834
  • Cone-rod dystrophy, X-linked, 1, 304020
Tags
Green Green List (high evidence)
RPGR
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cone-rod dystrophy, X-linked, 1, 304020
  • Macular degeneration, X-linked atrophic, 300834
  • Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455
  • Retinitis pigmentosa 3, 300029
Tags
Green Green List (high evidence)
RPGR
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cone-rod dystrophy, X-linked, 1, 304020
Tags
Green Green List (high evidence)
RPGRIP1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Leber congenital amaurosis 6, 613826
  • Cone-rod dystrophy 13, 608194
Tags
Green Green List (high evidence)
RPGRIP1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Leber congenital amaurosis 6, 613826
  • Cone-rod dystrophy 13, 608194
Tags
Green Green List (high evidence)
RPGRIP1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cone-rod dystrophy 13, 608194
Tags
Green Green List (high evidence)
RPGRIP1L
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • RetNet
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Meckel syndrome 5
  • Joubert syndrome 7
  • COACH syndrome
Tags
Green Green List (high evidence)
RS1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Retinoschisis MONDO:0004579
Tags
Green Green List (high evidence)
RS1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinoschisis, MIM#312700
  • Developmental macular and foveal dystrophy (males with foveal schisis)
Tags
Green Green List (high evidence)
RTN4IP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Optic atrophy 10 with or without ataxia, mental retardation, and seizures
Tags
Green Green List (high evidence)
SAG
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Oguchi disease-1, MIM# 258100
Tags
Green Green List (high evidence)
SAMD7
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Macular dystrophy with or without cone dysfunction, MIM# 620762
Tags
Green Green List (high evidence)
SCAPER
3 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review Green
  • Expert list
  • Expert Review
  • Expert Review Green
  • Expert list
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder and retinitis pigmentosa MIM#618195
Tags
Green Green List (high evidence)
SCAPER
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder and retinitis pigmentosa, OMIM #618195
  • Bardet-Biedl syndrome
Tags
Green Green List (high evidence)
SCLT1
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Expert list
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet Biedl syndrome
  • Senior-Loken syndrome
Tags
Green Green List (high evidence)
SDCCAG8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • RetNet
Phenotypes
  • Bardet-Biedl syndrome 16, MIM# 615993
  • MONDO:0014444
  • Senior-Loken syndrome 7, MIM# 613615
  • MONDO:0013326
Tags
Green Green List (high evidence)
SDCCAG8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 16, MIM# 615993
  • MONDO:0014444
Tags
Green Green List (high evidence)
SLC24A1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830
Tags
Green Green List (high evidence)
SLC25A46
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • RetNet
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SLC25A46
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neuropathy, hereditary motor and sensory, type VIB (MIM#616505)
  • Pontocerebellar hypoplasia, type 1E, MIM# 619303
Tags
Green Green List (high evidence)
SLC37A3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Retinitis pigmentosa, MONDO:0019200, SLC37A3-related
Tags
Green Green List (high evidence)
SLC38A8
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis OMIM:609218
  • foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216
Tags
Green Green List (high evidence)
SLC44A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Childhood onset degeneration
  • progressive ataxia
  • tremor
  • cognitive decline
  • dysphagia
  • optic atrophy
  • dysarthria
Tags
Green Green List (high evidence)
SLC52A2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Brown-Vialetto-Van Laere syndrome 2
Tags
Green Green List (high evidence)
SNRNP200
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 33, MIM#610359
  • SNRNP200-related dominant retinopathy MONDO:0800098
Tags
Green Green List (high evidence)
SPATA7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Leber Congenital Amaurosis
  • Retinitis pigmentosa, juvenile, autosomal recessive, 604232
  • Leber congenital amaurosis 3
Tags
Green Green List (high evidence)
SPG7
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • autosomal dominant optical atrophy
Tags
Green Green List (high evidence)
SRD5A3
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Iq MIM#612379
Tags
Green Green List (high evidence)
SSBP1
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Optic atrophy with or without extraocular phenotypes
  • Optic atrophy-13 with retinal and foveal abnormalities, MIM#165510
Tags
Green Green List (high evidence)
STN1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cerebroretinal microangiopathy with calcification and cysts 2, MIM#617341
Tags
Green Green List (high evidence)
STX3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Retinal dystrophy and microvillus inclusion disease, MIM#619446
Tags
Green Green List (high evidence)
TBC1D32
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Retinitis pigmentosa 100, MIM# 621280
Tags
Green Green List (high evidence)
TIMM8A
2 reviews
1 green 		Unknown
Sources
  • Expert Review Green
  • RetNet
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TIMP3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Sorsby fundus dystrophy, MIM# 136900
Tags
Green Green List (high evidence)
TINF2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Revesz syndrome, 268130
Tags
Green Green List (high evidence)
TMEM126A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Optic atrophy 7, MIM# 612989
  • MONDO:0013069
Tags
Green Green List (high evidence)
TMEM216
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Retinitis pigmentosa, MONDO:0019200, TMEM216-related
Tags
  • UTR
Green Green List (high evidence)
TMEM216
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • RetNet
Phenotypes
  • Joubert syndrome 2, MIM# 608091
Tags
Green Green List (high evidence)
TMEM218
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert syndrome 39, MIM#619562
  • retinal dystrophy
  • polycystic kidneys
  • occipital encephalocele
Tags
Green Green List (high evidence)
TMEM231
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 20 MIM#614970
Tags
Green Green List (high evidence)
TMEM237
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • RetNet
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TOPORS
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 31, MIM#609923
  • TOPORS-related retinopathy MONDO:0700233
Tags
Green Green List (high evidence)
TPP1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 2, OMIM #204500
Tags
Green Green List (high evidence)
TRAF3IP1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Senior-Loken syndrome 9, MIM# 616629
  • MONDO:0014712
Tags
Green Green List (high evidence)
TREX1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • RetNet
Phenotypes
  • Vasculopathy, retinal, with cerebral leukodystrophy, MIM# 192315
Tags
Green Green List (high evidence)
TRNT1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • RetNet
Phenotypes
  • Retinitis pigmentosa and erythrocytic microcytosis, MIM# 616959
  • Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084
Tags
Green Green List (high evidence)
TRNT1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa and erythrocytic microcytosis
Tags
Green Green List (high evidence)
TRPM1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216
Tags
Green Green List (high evidence)
TSPAN12
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Exudative vitreoretinopathy 5, MIM# 613310
Tags
Green Green List (high evidence)
TTC8
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 51, 613464
  • Bardet-Biedl syndrome 8, 209900
Tags
Green Green List (high evidence)
TTC8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 8, MIM# 615985
Tags
Green Green List (high evidence)
TTLL5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cone-rod dystrophy 19,615860
Tags
Green Green List (high evidence)
TTPA
2 reviews
2 green 		Unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
  • RetNet
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TUBB4B
4 reviews
4 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Leber congenital amaurosis with early-onset deafness MIM#617879
  • Primary ciliary dyskinesia, MONDO:0016575, TUBB4B-related
Tags
Green Green List (high evidence)
TUBGCP4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • RetNet
Phenotypes
  • Microcephaly and chorioretinopathy, autosomal recessive, 3, MIM# 616335
Tags
Green Green List (high evidence)
TUBGCP6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • RetNet
Phenotypes
  • Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM# 251270
Tags
Green Green List (high evidence)
TULP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Leber congenital amaurosis 15, 613843
  • Retinitis pigmentosa 14, 600132
Tags
Green Green List (high evidence)
UBAP1L
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cone-rod dystrophy (MONDO:0015993), UBAP1L-related
Tags
Green Green List (high evidence)
UCHL1
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spastic paraplegia 79, autosomal recessive (MIM#615491)
Tags
Green Green List (high evidence)
UFM1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukodystrophy, hypomyelinating, 14, MIM# 617899
Tags
Green Green List (high evidence)
USH1C
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Usher syndrome, type 1C, 276904
Tags
Green Green List (high evidence)
USH1G
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Usher syndrome, type 1G, 606943
Tags
Green Green List (high evidence)
USH2A
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Usher syndrome, type 2A, 276901
  • Retinitis pigmentosa 39, 613809
Tags
Green Green List (high evidence)
USH2A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 39, 613809
  • Usher syndrome, type 2A, 276901
Tags
Green Green List (high evidence)
USP45
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Lebers congenital amaurosis
Tags
Green Green List (high evidence)
VCAN
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • RetNet
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Wagner Syndrome
Tags
Green Green List (high evidence)
VCAN
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Wagner syndrome 1, MIM# 143200
Tags
  • SV/CNV
Green Green List (high evidence)
VPS13B
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Expert Review
  • Victorian Clinical Genetics Services
Phenotypes
  • Cohen syndrome MIM#216550
Tags
Green Green List (high evidence)
VWA8
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Retinitis pigmentosa 97, MIM#620422
Tags
Green Green List (high evidence)
WDPCP
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • RetNet
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
WDR19
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • RetNet
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
WFS1
2 reviews
2 green 		Unknown
Sources
  • RetNet
  • Expert Review Green
Tags
Green Green List (high evidence)
WFS1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Wolfram syndrome 1, autosomal recessive, MIM# 222300
  • Wolfram-like syndrome, autosomal dominant, MIM#614296
Tags
Green Green List (high evidence)
WHRN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Usher syndrome, type 2D, 611383
Tags
Green Green List (high evidence)
ZFYVE26
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 15, autosomal recessive MIM#270700
Tags
Green Green List (high evidence)
ZNF408
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Exudative vitreoretinopathy 6, MIM# 616468
Tags
Green Green List (high evidence)
ZNF408
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 72, MIM# 616469
Tags
Green Green List (high evidence)
ZNHIT3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • PEHO syndrome, MIM# 260565
Tags
  • founder
Amber Amber List (moderate evidence)
ACTG1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Retinitis pigmentosa MONDO:0019200, ACTG1-related
Tags
Amber Amber List (moderate evidence)
ADIPOR1
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • syndromic retinitis pigmentosa
  • non-syndromic autosomal dominant retinitis pigmentosa
Tags
Amber Amber List (moderate evidence)
ADIPOR1
2 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • syndromic retinitis pigmentosa
  • non-syndromic autosomal dominant retinitis pigmentosa
Tags
Amber Amber List (moderate evidence)
ADIPOR1
3 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review Amber
  • RetNet
  • Royal Melbourne Hospital
Phenotypes
  • syndromic retinitis pigmentosa
  • non-syndromic autosomal dominant retinitis pigmentosa
Tags
Amber Amber List (moderate evidence)
AGPAT3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder (MONDO#0700092), AGPAT3-related
Tags
Amber Amber List (moderate evidence)
AHR
3 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • ?Retinitis pigmentosa 85
Tags
Amber Amber List (moderate evidence)
AP5B1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hereditary macular dystrophy MONDO:0020242, AP-5 complex-related
Tags
Amber Amber List (moderate evidence)
ARL3
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 83
  • Joubert syndrome 35
Tags
Amber Amber List (moderate evidence)
ARL6
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 55, 613575
  • Bardet-Biedl syndrome 3, 209900
Tags
Amber Amber List (moderate evidence)
ARMC9
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 30 MIM#617622
Tags
Amber Amber List (moderate evidence)
AUH
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • 3-methylglutaconic aciduria, type I, MIM# 250950
Tags
Amber Amber List (moderate evidence)
C8orf37
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Bardet-Biedl syndrome 21, MIM#617406
Tags
Amber Amber List (moderate evidence)
CCDC88A
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • PEHO syndrome-like, MIM#617507
Tags
Amber Amber List (moderate evidence)
CEP162
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Retinitis pigmentosa MONDO:0019200, CEP162-related
Tags
Amber Amber List (moderate evidence)
CLCC1
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 32, MIM# 609913
Tags
Amber Amber List (moderate evidence)
COL9A3
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Peripheral vitreoretinal degeneration and retinal detachment, AD
Tags
Amber Amber List (moderate evidence)
CRB2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Retinitis pigmentosa
Tags
Amber Amber List (moderate evidence)
CREB3
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Retinal degeneration, MONDO:0004580, CREB3-related
Tags
  • founder
Amber Amber List (moderate evidence)
CREB3
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Retinal degeneration, MONDO:0004580, CREB3-related
Tags
  • founder
Amber Amber List (moderate evidence)
DHX38
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 84, MIM#618220
Tags
Amber Amber List (moderate evidence)
EMC1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Amber
Phenotypes
  • ?Retinitis pigmentosa
  • Cerebellar atrophy, visual impairment, and psychomotor retardation
Tags
Amber Amber List (moderate evidence)
EXOSC2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
  • RetNet
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Short stature, hearing loss, retinitis pigmentosa, and distinctive facies, MIM# 617763
Tags
Amber Amber List (moderate evidence)
GDF6
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Leber congenital amaurosis 17 MIM#615360
Tags
Amber Amber List (moderate evidence)
GUCA1B
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 48, MIM#613827
Tags
  • founder
Amber Amber List (moderate evidence)
GUCA1B
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 48, MIM#613827
Tags
  • founder
Amber Amber List (moderate evidence)
HACE1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Amber
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Spastic paraplegia and psychomotor retardation with or without seizures MIM#616756
Tags
Amber Amber List (moderate evidence)
HBS1L
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Retinal disorder MONDO:0005283
Tags
Amber Amber List (moderate evidence)
IFT57
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Bardet-Bield syndrome
  • ciliopathy - MONDO:0005308
Tags
Amber Amber List (moderate evidence)
IFT57
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Bardet-Bield syndrome
  • ciliopathy - MONDO:0005308
Tags
Amber Amber List (moderate evidence)
IFT81
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • RetNet
Phenotypes
  • Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895
Tags
Amber Amber List (moderate evidence)
IMPG1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Retinitis pigmentosa, MONDO:0019200
  • Retinitis pigmentosa 91, MIM# 153870
Tags
Amber Amber List (moderate evidence)
INVS
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • RetNet
Phenotypes
  • Nephronophthisis 2, infantile, MIM#602088
Tags
Amber Amber List (moderate evidence)
IRX5
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • cone dystrophy, MONDO:0000455
Tags
  • SV/CNV
Amber Amber List (moderate evidence)
IRX6
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • cone dystrophy, MONDO:0000455
Tags
  • SV/CNV
Amber Amber List (moderate evidence)
JAG1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Familial exudative vitreoretinopathy
Tags
Amber Amber List (moderate evidence)
KCNJ13
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Snowflake vitreoretinal degeneration, MIM# 193230
Tags
Amber Amber List (moderate evidence)
LRP6
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Exudative vitreoretinopathy 8, MIM# 621268
Tags
Amber Amber List (moderate evidence)
LRRC32
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cleft palate, proliferative retinopathy, and developmental delay (CPPRDD) syndrome, MIM# 619074
Tags
Amber Amber List (moderate evidence)
MCAT
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Optic atrophy 15, MIM# 620583
Tags
Amber Amber List (moderate evidence)
MFN2
2 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • RetNet
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2A2A, MIM# 609260
  • Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 617087
Tags
Amber Amber List (moderate evidence)
MIR204
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Retinal dystrophy and iris coloboma with or without cataract (MIM#616722)
Tags
  • non-coding gene
Amber Amber List (moderate evidence)
MIR204
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Retinal dystrophy and iris coloboma with or without cataract (MIM#616722)
Tags
  • non-coding gene
Amber Amber List (moderate evidence)
MPDZ
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • hydrocephalus, congenital, 2, with or without brain or eye anomalies MIM:615219
Tags
Amber Amber List (moderate evidence)
MVK
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Mevalonic aciduria
  • Hyper-IgD syndrome
Tags
Amber Amber List (moderate evidence)
NDUFS1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 5, 618226
Tags
Amber Amber List (moderate evidence)
NDUFS3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230
Tags
Amber Amber List (moderate evidence)
NEK2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Amber
Phenotypes
  • ?Retinitis pigmentosa 67, 615565
Tags
Amber Amber List (moderate evidence)
OPN1LW
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Blue cone monochromacy MIM#303700
  • Colourblindness, protan MIM#303900
Tags
  • SV/CNV
Amber Amber List (moderate evidence)
OPN1MW
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Blue cone monochromacy MIM#303700
  • Colourblindness, deutan MIM#303800
Tags
  • SV/CNV
Amber Amber List (moderate evidence)
PDE6G
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 57, MIM#613582
Tags
Amber Amber List (moderate evidence)
PDSS1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Coenzyme Q10 deficiency, primary, 2, MIM# 614651
Tags
Amber Amber List (moderate evidence)
PDZD7
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472
Tags
Amber Amber List (moderate evidence)
PEX26
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872
  • Peroxisome biogenesis disorder 7B MIM#614873
Tags
Amber Amber List (moderate evidence)
PLAA
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies (MIM#617527)
Tags
Amber Amber List (moderate evidence)
POC5
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • RetNet
Phenotypes
  • retinitis pigmentosa
  • short stature
  • microcephaly
  • recurrent glomerulonephritis
Tags
Amber Amber List (moderate evidence)
POLG
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700
  • Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662
  • Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459
  • Progressive external ophthalmoplegia, autosomal recessive 1 258450
Tags
Amber Amber List (moderate evidence)
PPIB
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Optic atrophy (MONDO:0003608), PPIB-related
Tags
  • founder
Amber Amber List (moderate evidence)
PRPF6
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 60, MIM# 613983
Tags
Amber Amber List (moderate evidence)
RBP3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 66, 615233
Tags
Amber Amber List (moderate evidence)
RDH11
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • RetNet
Phenotypes
  • Retinal dystrophy, juvenile cataracts, and short stature syndrome, MIM# 616108
Tags
Amber Amber List (moderate evidence)
SAG
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 47, MIM# 613758
Tags
  • founder
Amber Amber List (moderate evidence)
SEMA4A
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Cone-rod dystrophy 10, 610283
Tags
Amber Amber List (moderate evidence)
SEMA4A
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Cone-rod dystrophy 10, 610283
  • Retinitis pigmentosa 35, 610282
Tags
Amber Amber List (moderate evidence)
SLC29A3
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Expert list
Phenotypes
  • Histiocytosis-lymphadenopathy plus syndrome - MIM#602782
Tags
Amber Amber List (moderate evidence)
SLC4A7
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Retinitis pigmentosa, MONDO:0019200, SLC4A7-related
Tags
Amber Amber List (moderate evidence)
SLC6A6
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Literature
Phenotypes
  • Hypotaurinaemic retinal degeneration and cardiomyopathy (HTRDC), MIM#145350
  • Cone-rod retinopathy
  • cardiomyopathy
Tags
Amber Amber List (moderate evidence)
SNF8
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder plus optic atrophy, MIM# 620784
Tags
Amber Amber List (moderate evidence)
TBCD
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
  • Victorian Clinical Genetics Services
Phenotypes
  • Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193
Tags
Amber Amber List (moderate evidence)
TEAD1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Sveinsson chorioretinal atrophy MIM#108985
Tags
Amber Amber List (moderate evidence)
TIMM50
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • 3-methylglutaconic aciduria, type IX (MIM#617698)
Tags
Amber Amber List (moderate evidence)
TIMM8A
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Mohr-Tranebjaerg syndrome (MIM#304700)
Tags
Amber Amber List (moderate evidence)
TMEM107
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
  • Expert Review Green
  • Expert Review
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 29 MIM#617562
  • Orofaciodigital syndrome XVI MIM#617563
Tags
Amber Amber List (moderate evidence)
TRIM49
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • retinitis pigmentosa MONDO:0019200
Tags
Amber Amber List (moderate evidence)
TUB
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • RetNet
Phenotypes
  • Retinal dystrophy and obesity, MIM# 616188
Tags
Amber Amber List (moderate evidence)
UNC119
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Cone-rod dystrophy 24, MIM# 620342
Tags
Amber Amber List (moderate evidence)
ZDHHC16
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder MONDO:0700092, ZDHHC16-related
Tags
Amber Amber List (moderate evidence)
ZNF513
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 58, 613617
Tags
Red Red List (low evidence)
ADGRA3
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa, MONDO:0019200, ADGRA3-related
Tags
Red Red List (low evidence)
BAIAP3
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Retinitis pigmentosa MONDO:0019200, BAIAP3-related
Tags
Red Red List (low evidence)
CA4
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 17, 600852
Tags
  • disputed
Red Red List (low evidence)
CCT2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Leber's congenital amaurosis
Tags
Red Red List (low evidence)
CEP19
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Bardet Biedl syndrome
Tags
Red Red List (low evidence)
CIB2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Usher syndrome, type IJ, 614869
Tags
  • refuted
Red Red List (low evidence)
DTHD1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Leber congenital amaurosis with muscle dystrophy
Tags
Red Red List (low evidence)
ELOVL4
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • RetNet
Phenotypes
  • Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110
  • Stargardt disease 3, 600110
  • Ichthyosis, spastic quadriplegia, and mental retardation, 614457
Tags
Red Red List (low evidence)
ESPN
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Usher syndrome, type 1M, MIM#618632
Tags
Red Red List (low evidence)
FSCN2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 30 MIM#607921
  • Macular degeneration
Tags
Red Red List (low evidence)
FSCN2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 30 MIM#607921
  • Macular degeneration
Tags
Red Red List (low evidence)
HARS
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Usher syndrome type 3B
Tags
Red Red List (low evidence)
HARS
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • RetNet
  • Victorian Clinical Genetics Services
Phenotypes
  • Usher syndrome type 3B
Tags
Red Red List (low evidence)
HKDC1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Retinitis pigmentosa 92, MIM# 619614
Tags
Red Red List (low evidence)
HMCN1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Macular Degeneration
Tags
Red Red List (low evidence)
ITM2B
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • ?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities MIM#616079
Tags
Red Red List (low evidence)
MIEF1
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Optic atrophy 14 (MIM#620550)
Tags
Red Red List (low evidence)
MTPAP
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Spastic ataxia 4, autosomal recessive 613672
Tags
Red Red List (low evidence)
NDUFA7
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Optic atrophy, MONDO:0003608, NDUFA7-related
Tags
Red Red List (low evidence)
PBX1
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
Tags
Red Red List (low evidence)
PDE6H
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Retinal Cone Dystrophy 3, 610024
Tags
Red Red List (low evidence)
PISD
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Liberfarb syndrome MIM#618889
Tags
Red Red List (low evidence)
PITPNM3
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Cone-rod dystrophy 5, 600977
Tags
Red Red List (low evidence)
PITPNM3
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Cone-rod dystrophy 5, 600977
Tags
Red Red List (low evidence)
PITPNM3
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
  • Royal Melbourne Hospital
Phenotypes
  • Cone-rod dystrophy 5, 600977
Tags
Red Red List (low evidence)
PMPCA
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 2
Tags
Red Red List (low evidence)
PRKCG
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Retinitis pigmentosa 11 MIM#600138
Tags
Red Red List (low evidence)
RDH8
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Stargardt disease 5, MIM# 621259
Tags
Red Red List (low evidence)
RGR
1 review
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 44, 613769
Tags
  • disputed
Red Red List (low evidence)
RIMS1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Cone-rod dystrophy 7, 603649
Tags
Red Red List (low evidence)
RP9
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 9, 180104
Tags
Red Red List (low evidence)
SAG
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 47, MIM# 613758
Tags
Red Red List (low evidence)
SAMD11
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Autosomal recessive retinitis pigmentosa
Tags
Red Red List (low evidence)
SCAPER
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Literature
Phenotypes
  • Intellectual developmental disorder and retinitis pigmentosa MIM#618195
Tags
Red Red List (low evidence)
SCLT1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Nonsyndromic retinitis pigmentosa
Tags
Red Red List (low evidence)
SEMA4A
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Cone-rod dystrophy 10, 610283
  • Retinitis pigmentosa 35, 610282
Tags
  • refuted
Red Red List (low evidence)
SLC24A1
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Night blindness, congenital stationary (complete), 1D, autosomal recessive
  • 613830
Tags
Red Red List (low evidence)
SLC27A3
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • Literature
Phenotypes
  • Inherited neurodegenerative disorder, MONDO:0024237, SLC27A3-related
Tags
Red Red List (low evidence)
SLC39A12
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Retinitis pigmentosa, MONDO:0019200, SLC39A12-related
Tags
Red Red List (low evidence)
SLC7A14
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 68, 615725 (3)
Tags
  • disputed
Red Red List (low evidence)
SPP2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Autosomal dominant retinitis pigmentosa
Tags
Red Red List (low evidence)
TRIM32
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 11, MIM# 615988
Tags
Red Red List (low evidence)
UBA5
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 44 (MIM#617132)
Tags
Red Red List (low evidence)
VSX2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • smooth irides
  • lens subluxation
  • cone-rod dysfunction
  • high myopia
Tags
Red Red List (low evidence)
WDPCP
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 15, MIM# 615992
Tags
Red Red List (low evidence)
WDR34
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Retinitis pigmentosa
Tags
Red Red List (low evidence)
YME1L1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Optic atrophy 11 MIM#617302
Tags
Red Red List (low evidence)
ZNF423
3 reviews
2 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • RetNet
  • Royal Melbourne Hospital
Phenotypes
  • Joubert syndrome 19 (MIM#614844)
Tags
No list No list
ATXN7
1 review
1 green 		Unknown
Sources
  • Expert Review Removed
  • Expert list
  • RetNet
Tags
  • STR

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