Description
This is a combined panel for posterior segment abnormalities. 

This includes the disorders: 
- Cone Dysfunction Syndrome 
- Developmental macular and foveal dystrophy 
- Inherited macular dystrophy
- Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy 
- Rod Dysfunction Syndrome 
- Rod-cone dystrophy
- Familial exudative retinopathy

See individual eligibility statements for these disorders, available here: https://www.genomicsengland.co.uk/information-for-gmc-staff/rare-disease-documents/

This panel includes BRIDGE consortium Tier 1 genes from NIHR BioResource - Rare Diseases Study (NIHRBR-RD) sent by Karyn Megy, WGS Clinical Feedback Lead which incorporates pertinent genes
from the Specialist Pathology: Evaluating Exomes in Diagnostics (SPEED_RETIN) project and covers retinal dystrophy.

The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel :
Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge
Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust

16 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Simon Ramsden (NHS)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Andrew Webster (Moorfields Eye Hospital)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Richard Scott (Genomics England Curator)

    Group: Other
    Workplace: Genomics England

  • Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

    Group: Other
    Workplace: Research lab

  • Ellen Thomas (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Kirsty McCaffrey (Manchester Centre for Genomic Medicine)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Stephanie Barton (Manchester Centre for Genomic Medicine)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Mervyn Thomas (University of Leicester)

    Group: GeCIP domain
    Workplace: Research lab

  • Panagiotis Sergouniotis (Academic Clinic Fellow)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Gabrielle Wheway (University of the West of England)

    Group: GeCIP domain
    Workplace: Research lab

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • BRIDGE consortium (NIHRBR-RD)

    Group: Other
    Workplace: Other

  • Chris Campbell (GEL)

    Group: Other
    Workplace: Other

313 genes

234 reviewed, 177 green

List Gene Reviews Mode of inheritance Details
313 genes
Green Green List (high evidence)
WHRN
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
Green Green List (high evidence)
ABCA4
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Macular Dystrophy/Degeneration/Stargardt Disease
  • Stargardt disease 1, 248200
  • Macular Degeneration (Dominant)
  • Stargardt Disease, Recessive
  • Retinitis pigmentosa 19, 601718
  • Cone-rod dystrophy 3, 604116
  • Macular degeneration, age-related, 2, 153800
  • Fundus flavimaculatus, 248200
  • Retinal dystrophy, early-onset severe, 248200
  • Retinitis pigmentosa
  • Retinitis Pigmentosa, Recessive
  • Stargardt disease 1, 248200Retinitis pigmentosa 19, 601718Cone-rod dystrophy 3, 604116Macular degeneration, age-related, 2, 153800Fundus flavimaculatus, 248200Retinal dystrophy, early-onset severe, 248200
  • Eye Disorders
  • Retinitis pigmentosa 19, 601718
  • Cone-rod dystrophy 3, 604116
  • Macular degeneration, age-related, 2, 153800
  • Fundus flavimaculatus, 248200
  • Retinal dystrophy, early-onset severe, 248200
  • Macular Degeneration
  • Stargardt Disease 1
  • STGD1
Tags
  • watchlist
Green Green List (high evidence)
ABHD12
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
  • Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa andCataract (PHARC)
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857
Green Green List (high evidence)
ACO2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Infantile cerebellar-retinal degeneration, 614559
Green Green List (high evidence)
ADAM9
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Eye Disorders
  • Cone-Rod Dystrophy, Recessive
  • Cone-rod dystrophy 9, 612775
Green Green List (high evidence)
ADAMTS18
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Genetic Retinal Degeneration Conditions
  • Microcornea, myopic chorioretinal atrophy, and telecanthus
Green Green List (high evidence)
ADGRV1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Usher syndrome, type 2C
  • Eye Disorders
Green Green List (high evidence)
AGBL5
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
  • Expert Review Green
Phenotypes
  • Retinitis pigmentosa
  • Retinitis pigmentosa 75 617023
Green Green List (high evidence)
AHI1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
  • Joubert syndrome 17
Green Green List (high evidence)
AIPL1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Cone-rod dystrophy (AD)
  • Leber congenital amaurosis 4 (AR)
  • Retinitis pigmentosa, juvenile (AD)
  • Leber Congenital Amaurosis
  • Leber congenital amaurosis
  • Leber congenital amaurosis 4, 604393
  • Retinitis pigmentosa, juvenile, 604393
  • Cone-rod dystrophy, 604393
  • Eye Disorders
  • Retinitis Pigmentosa, Dominant
  • Retinitis Pigmentosa, Recessive
  • Retinitis pigmentosa
Green Green List (high evidence)
ALMS1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
  • Alstrom syndrome
Green Green List (high evidence)
ARHGEF18
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Retinitis pigmentosa 78 617433
Green Green List (high evidence)
ARL2BP
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Retinitis pigmentosa with or without situs inversus, 615434
Green Green List (high evidence)
ARL6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
  • Bardet-Biedl syndrome 3, 209900
  • {Bardet-Biedl syndrome 1, modifier of}, 209900
  • Retinitis pigmentosa 55, 613575
  • Retinitis Pigmentosa, Recessive
Green Green List (high evidence)
ATF6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Achromatopsia 7
Green Green List (high evidence)
ATOH7
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Persistent hyperplastic primary vitreous, autosomal recessive
  • multiple ocular developmental defects, including severe vitreoretinal dysplasia, optic nerve hypoplasia, persistent fetal vasculature, microphthalmia, congenital cataracts, microcornea, corneal opacity and nystagmus
Green Green List (high evidence)
BBS1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
  • Retinitis pigmentosa
Green Green List (high evidence)
BBS10
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
  • Bardet-Biedl syndrome 10
Green Green List (high evidence)
BBS12
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
  • Bardet-Biedl syndrome 12
Green Green List (high evidence)
BBS2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
  • Bardet-Biedl syndrome 2
  • Retinitis pigmentosa 74
Green Green List (high evidence)
BBS4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
  • Bardet-Biedl syndrome 4
Green Green List (high evidence)
BBS5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
  • Bardet-Biedl syndrome 5
Green Green List (high evidence)
BBS7
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
Green Green List (high evidence)
BBS9
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
Green Green List (high evidence)
BEST1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Best macular atrophy (AD)
  • Bestrophinopathy (AR)
  • Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma (AD)
  • Retinitis pigmentosa, concentric (AD)
  • Retinitis pigmentosa-50 (AD)
  • Vitelliform macular dystrophy, adult-onset (AD)
  • Vitreoretinochoroidopathy (AD)
  • Best macular dystrophy, 153700
  • Maculopathy, bull's-eye
  • Vitelliform macular dystrophy, adult-onset, 608161
  • Bestrophinopathy, 611809
  • Vitreoretinochoroidopathy, 193220
  • Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 1
  • Best Vitelliform Macular Dystrophy
  • Eye Disorders
  • Retinitis pigmentosa
  • Retinitis Pigmentosa, Recessive
  • Best macular dystrophy, 153700
  • Macular Dystrophy/Degeneration/Stargardt Disease
  • Macular Dystrophy, Vitelliform
  • VMD
  • Macular Dystrophy, Vitelliform, Adult-Onset
  • Best macular dystrophy
Green Green List (high evidence)
C1QTNF5
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
  • Retinal Degeneration
  • Retinitis pigmentosa
  • Retinal degeneration, late-onset, autosomal dominant, 605670
Green Green List (high evidence)
C21orf2
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Retinal dystrophy with macular staphyloma, 617547
Green Green List (high evidence)
C2orf71
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
  • Retinitis pigmentosa 54, 613428
  • Retinitis pigmentosa
  • Retinitis Pigmentosa, Recessive
Tags
  • new-gene-name
Green Green List (high evidence)
C8orf37
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Eye Disorders
  • Retinitis pigmentosa 64, 614500Cone-rod dystrophy 16, 614500
  • Retinitis pigmentosa
  • Retinitis Pigmentosa, Recessive
Green Green List (high evidence)
CA4
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
  • Retinitis Pigmentosa, Dominant
  • Retinitis pigmentosa
  • Retinitis pigmentosa 17, 600852
Green Green List (high evidence)
CABP4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Cone-rod synaptic disorder, congenital nonprogressive
  • Congenital Stationary Night Blindness
  • Night blindness, congenital stationary (incomplete), 2B, autosomal recessive, 610427
Green Green List (high evidence)
CACNA1F
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Congenital Stationary Night Blindness
  • Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071Cone-rod dystropy, X-linked, 3, 300476Aland Island eye disease, 300600
Green Green List (high evidence)
CAPN5
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Genetic Retinal Degeneration Conditions
Green Green List (high evidence)
CC2D2A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • COACH syndrome
  • Joubert syndrome 9
  • Meckel syndrome 6
  • Eye Disorders
Green Green List (high evidence)
CDH23
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
Green Green List (high evidence)
CDH3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • i Hypotrichosis, congenital, with juvenile macular dystrophy, 601553Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280
  • i Hypotrichosis, congenital, with juvenile macular dystrophy, 601553
  • Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280
  • Macular Dystrophy/Degeneration/Stargardt Disease
  • Eye Disorders
Green Green List (high evidence)
CDHR1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Eye Disorders
  • Cone-Rod Dystrophy, Recessive
  • Cone-rod dystrophy 15, 613660
Green Green List (high evidence)
CEP164
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Genetic Retinal Degeneration Conditions
Green Green List (high evidence)
CEP290
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Bardet-Biedl syndrome 14 (AR)
  • Joubert syndrome 5 (AR)
  • Leber congenital amaurosis 10 (AR)
  • Meckel syndrome type 4 (AR)
  • Senior-Loken syndrome 6 (AR)
  • Leber congenital amaurosis type 10
  • Joubert syndrome 5, 610188
  • Senior-Loken syndrome 6, 610189
  • Leber congenital amaurosis 10, 611755
  • Meckel syndrome 4, 611134
  • Bardet-Biedl syndrome 14, 209900
  • Leber Congenital Amaurosis
  • Eye Disorders
Green Green List (high evidence)
CEP78
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Cone-Rod Dystrophy and Hearing Loss
  • CRDHL
  • OMIM: 617236
Green Green List (high evidence)
CERKL
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Retinitis pigmentosa 26, RP26 (AR)
  • Eye Disorders
  • Retinitis pigmentosa
  • Retinitis Pigmentosa, Recessive
  • Retinitis pigmentosa 26, 608380
Green Green List (high evidence)
CHM
1 review
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Choroideremia
  • Eye Disorders
  • Retinitis pigmentosa
  • Choroideremia (degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye)
Tags
  • gene-therapy-trial
Green Green List (high evidence)
CIB2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
Green Green List (high evidence)
CLN3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
  • Retinitis pigmentosa
Green Green List (high evidence)
CLRN1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
  • ?Usher syndrome, type 3A, 276902Retinitis pigmentosa 61, 614180
  • Retinitis Pigmentosa, Dominant
  • Retinitis pigmentosa
Green Green List (high evidence)
CNGA1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Retinitis pigmentosa 49, RP49 (AR)
  • Eye Disorders
  • Retinitis pigmentosa
  • Retinitis Pigmentosa, Recessive
  • Retinitis pigmentosa 49, 613756
Green Green List (high evidence)
CNGA3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Achromatopsia
  • Achromatopsia-2
  • Eye Disorders
  • Achromatopsia, Cone, and Cone-rod Dystrophy
Green Green List (high evidence)
CNGB1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Retinitis pigmentosa 45, RP45 (AR)
  • Eye Disorders
  • Retinitis pigmentosa
  • Retinitis Pigmentosa, Recessive
  • Retinitis pigmentosa 45, 613767
Green Green List (high evidence)
CNGB3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Achromatopsia
  • Macular degeneration, juvenile
  • Achromatopsia-3, 262300
  • Macular degeneration, juvenile, 248200 -3
  • Stargardt Disease, Recessive
  • Macular Dystrophy/Degeneration/Stargardt Disease
  • Achromatopsia-3
  • Eye Disorders
  • Achromatopsia, Cone, and Cone-rod Dystrophy
Tags
  • gene-therapy-trial
Green Green List (high evidence)
CNNM4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Eye Disorders
  • Jalili syndrome
Green Green List (high evidence)
COL4A1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
Green Green List (high evidence)
CRB1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leber Congenital Amaurosis
  • Retinitis pigmentosa-12, autosomal recessive, 600105Leber congenital amaurosis 8, 613835Pigmented paravenous chorioretinal atrophy, 172870
  • Eye Disorders
  • Retinitis pigmentosa
  • Retinitis Pigmentosa, Recessive
  • Retinitis pigmentosa-12, autosomal recessive, 600105
Green Green List (high evidence)
CRX
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Cone-rod retinal dystrophy -2
  • Leber congenital amaurosis 7
  • Leber Congenital Amaurosis
  • Cone-rod retinal dystrophy-2, 120970
  • Leber congenital amaurosis 7, 613829
  • CRX-RELATED LEBER CONGENITAL AMAUROSIS LEBER CONGENITAL AMAUROSIS 7
  • Eye Disorders
  • Retinitis Pigmentosa, Dominant
  • Retinitis pigmentosa
Green Green List (high evidence)
CSPP1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Genetic Retinal Degeneration Conditions
  • Joubert syndrome 21
Green Green List (high evidence)
CTNNB1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Exudative vitreoretinopathy 7 617572
Green Green List (high evidence)
CYP4V2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Bietti crystalline corneoretinal dystrophy, 210370
  • Eye Disorders
  • Retinitis pigmentosa
Green Green List (high evidence)
DHDDS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
  • Retinitis pigmentosa
  • Retinitis Pigmentosa, Recessive
  • Retinitis pigmentosa 59, 613861
Green Green List (high evidence)
EFEMP1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
Phenotypes
  • Macular Dystrophy/Degeneration/Stargardt Disease
  • Inherited macular dystrophy (Doyne/dominant drusen)
Green Green List (high evidence)
ELOVL4
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Macular dystrophy, autosomal dominant, chromosome 6-linked
  • Stargardt disease 3
  • Stargardt disease 3, 600110Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110Ichthyosis, spastic quadriplegia, and mental retardation, 614457
  • Stargardt Disease, Dominant
  • Stargardt disease 3, 600110
  • Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110
  • Ichthyosis, spastic quadriplegia, and mental retardation, 614457
  • Macular Dystrophy/Degeneration/Stargardt Disease
  • Eye Disorders
Green Green List (high evidence)
ERCC6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cockayne syndrome, type B 133540
Green Green List (high evidence)
ERCC8
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cockayne syndrome, type A 216400
Green Green List (high evidence)
EYS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Retinitis pigmentosa 25
  • Eye Disorders
  • Retinitis pigmentosa
  • Retinitis Pigmentosa, Recessive
  • Retinitis pigmentosa 25, 602772
Green Green List (high evidence)
FAM161A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
  • Retinitis pigmentosa 28, 606068
  • Retinitis pigmentosa
  • Retinitis Pigmentosa, Recessive
Green Green List (high evidence)
FLVCR1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
  • Posterior Column Ataxia with Retinitis Pigmentosa
  • Ataxia, posterior column, with retinitis pigmentosa, 609033
  • Retinitis pigmentosa
Green Green List (high evidence)
FZD4
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
Green Green List (high evidence)
GNAT1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital Stationary Night Blindness
  • Night blindness, congenital stationary, autosomal dominant 3, 610444
Green Green List (high evidence)
GNAT2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Achromatopsia
  • Achromatopsia-4
  • Eye Disorders
  • Achromatopsia, Cone, and Cone-rod Dystrophy
Green Green List (high evidence)
GNPTG
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Genetic Retinal Degeneration Conditions
  • Mucolipidosis III gamma
Green Green List (high evidence)
GPR143
4 reviews
3 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
Phenotypes
  • Developmental macular and foveal dystrophy (foveal hypoplasia in the context of albinism)
  • Eye Disorders
  • Ocular albinism, type I
  • Nystagmus
  • Nystagmus 6, congenital, X-linked, 300814
  • Ocular albinism, type I, Nettleship-Falls type, 300500
Green Green List (high evidence)
GPR179
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital Stationary Night Blindness
  • Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565
Green Green List (high evidence)
GRK1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Oguchi disease-2, 613411
Green Green List (high evidence)
GRM6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital Stationary Night Blindness
  • Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270
Green Green List (high evidence)
GUCA1A
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Cone dystrophy-3, 602093
  • Eye Disorders
  • Achromatopsia, Cone, and Cone-rod Dystrophy
Green Green List (high evidence)
GUCA1B
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Macular Dystrophy/Degeneration/Stargardt Disease
  • Eye Disorders
  • Retinitis Pigmentosa, Dominant
  • Retinitis pigmentosa
  • Retinitis pigmentosa 48, 613827
Green Green List (high evidence)
GUCY2D
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Cone-rod dystrophy 6 (AD)
  • Leber congenital amaurosis 1 (AR)
  • Leber congenital amaurosis 1, 204000
  • Eye Disorders
  • Retinitis pigmentosa
Green Green List (high evidence)
HARS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
  • Usher syndrome type 3B
  • Usher syndrome
Green Green List (high evidence)
HGSNAT
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
  • Expert Review Green
Phenotypes
  • Retinitis pigmentosa 73
Green Green List (high evidence)
HMX1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Green Green List (high evidence)
IDH3B
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
  • Retinitis pigmentosa 46, 612572
  • Retinitis pigmentosa
  • Retinitis Pigmentosa, Recessive
Green Green List (high evidence)
IFT140
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Genetic Retinal Degeneration Conditions
Green Green List (high evidence)
IMPDH1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Leber congenital amaurosis 11
  • Retinitis pigmentosa 10
  • Retinitis pigmentosa 10, 180105
  • Leber Congenital Amaurosis
  • Leber congenital amaurosis 11
  • Eye Disorders
  • Retinitis Pigmentosa, Dominant
  • Retinitis pigmentosa
Green Green List (high evidence)
IMPG1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Macular dystrophy, vitelliform, 4
Green Green List (high evidence)
IMPG2
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Maculopathy, IMPG2 - related
  • Retinitis pigmentosa 56
  • Eye Disorders
  • Retinitis pigmentosa
  • Retinitis pigmentosa 56, 613581
  • Retinitis Pigmentosa, Recessive
Green Green List (high evidence)
INPP5E
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Genetic Retinal Degeneration Conditions
Green Green List (high evidence)
IQCB1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Senior-Loken syndrome 5 (nephronophthisis and Leber congenital amaurosis)
  • Leber congenital amaurosis
  • Eye Disorders
Green Green List (high evidence)
KCNJ13
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leber congenital amaurosis 16, 614186
  • Leber Congenital Amaurosis
  • Eye Disorders
  • Snowflake vitreoretinal degeneration, 193230
Green Green List (high evidence)
KCNV2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Retinal Cone Dystrophy
  • Eye Disorders
  • Achromatopsia, Cone, and Cone-rod Dystrophy
Green Green List (high evidence)
KIF11
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Genetic Retinal Degeneration Conditions
Green Green List (high evidence)
KLHL7
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Retinitis pigmentosa 42
  • Eye Disorders
  • Retinitis Pigmentosa, Dominant
  • Retinitis pigmentosa
  • Retinitis pigmentosa 42, 612943
Green Green List (high evidence)
LCA5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leber congenital amaurosis 5
  • Leber Congenital Amaurosis
  • Leber congenital amaurosis 5, 604537
  • Eye Disorders
  • Leber congenital amaurosis 5
Green Green List (high evidence)
LRAT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leber congenital amaurosis 14
  • Retinal dystrophy, early - onset severe
  • Retinitis pigmentosa, juvenile
  • Leber Congenital Amaurosis
  • Retinal dystrophy, early-onset severe, 613341
  • Retinitis pigmentosa
  • Retinitis Pigmentosa, Recessive
  • Eye Disorders
Green Green List (high evidence)
LRIT3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital Stationary Night Blindness
  • Congenital Stationary Night Blindness, Recessive
  • Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058
Green Green List (high evidence)
LRP5
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
  • Exudative vitreoretinopathy 4
Green Green List (high evidence)
LZTFL1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
  • Bardet-Biedl syndrome 17
Green Green List (high evidence)
MAK
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
  • Retinitis pigmentosa 62, 614181
  • Retinitis pigmentosa
  • Retinitis Pigmentosa, Recessive
Green Green List (high evidence)
MERTK
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Retinitis pigmentosa 38
  • childhood onset rod-cone dystrophy with early macular atrophy
  • Leber congenital amaurosis
  • Retinitis pigmentosa 38
  • Eye Disorders
  • Retinitis pigmentosa
  • Retinitis Pigmentosa, Recessive
  • Retinitis pigmentosa 38, 613862
Green Green List (high evidence)
MFRP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
Green Green List (high evidence)
MKKS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
Green Green List (high evidence)
MKS1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
Green Green List (high evidence)
MYO7A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
Green Green List (high evidence)
NDP
1 review
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
Green Green List (high evidence)
NMNAT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leber congenital amaurosis 9, 608553
Green Green List (high evidence)
NPHP1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
Green Green List (high evidence)
NPHP3
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
Green Green List (high evidence)
NPHP4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
Green Green List (high evidence)
NR2E3
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Enhanced S - cone syndrome (AR)
  • Retinitis pigmentosa 37 (AD and AR)
  • Eye Disorders
  • Retinitis pigmentosa
  • Retinitis Pigmentosa, Recessive
  • Enhanced S-cone syndrome, 268100
Green Green List (high evidence)
NRL
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Retinal degeneration, autosomal recessive, clumped pigment type (AR)
  • Retinitis pigmentosa 27 (AD)
  • Eye Disorders
  • Retinitis Pigmentosa, Dominant
  • Retinitis pigmentosa
  • Retinitis pigmentosa 27, 613750
Green Green List (high evidence)
NYX
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Congenital Stationary Night Blindness
  • Congenital Stationary Night Blindness, X-linked
  • Night blindness, congenital stationary (complete), 1A, X-linked, 310500
Green Green List (high evidence)
OAT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
Green Green List (high evidence)
OFD1
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 10
  • Eye Disorders
  • ?Retinitis pigmentosa 23, 300424Joubert syndrome 10, 300804Orofaciodigital syndrome I, 311200Simpson-Golabi-Behmel syndrome, type 2, 300209
  • Retinitis pigmentosa
Green Green List (high evidence)
OTX2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Microphthalmia, syndromic 5, 610125
  • early onset retinal dystrophy
  • autosomal-dominant pattern dystrophy of the retinal pigment epithelium
  • Retinal Dystrophy
  • Eye Disorders
Green Green List (high evidence)
PANK2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • HARP syndrome
  • Neurodegeneration with brain iron accumulation 1
Green Green List (high evidence)
PCDH15
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Usher syndrome Type 1F
  • non-syndromic deafness
  • Usher syndrome, type 1D/F digenic
  • Eye Disorders
Green Green List (high evidence)
PCYT1A
4 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940
Green Green List (high evidence)
PDE6A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Retinitis pigmentosa 43
  • Eye Disorders
  • Retinitis pigmentosa
  • Retinitis Pigmentosa, Recessive
  • Retinitis pigmentosa 43, 613810
Green Green List (high evidence)
PDE6B
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Night blindness, congenital stationary, autosomal dominant 2
  • Retinitis pigmentosa 40
  • Congenital Stationary Night Blindness, Dominant
  • Congenital Stationary Night Blindness
  • Night blindness, congenital stationary, autosomal dominant 2, 163500
  • Retinitis pigmentosa
  • Retinitis Pigmentosa, Recessive
Green Green List (high evidence)
PDE6C
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Achromatopsia
  • Cone dystrophy 4
  • Eye Disorders
  • Cone-Rod Dystrophy, Recessive
  • Achromatopsia, Cone, and Cone-rod Dystrophy
Green Green List (high evidence)
PDE6G
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
  • Retinitis pigmentosa
  • Retinitis Pigmentosa, Recessive
  • Retinitis pigmentosa 57, 613582
Green Green List (high evidence)
PEX1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Genetic Retinal Degeneration Conditions
Green Green List (high evidence)
PEX2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Genetic Retinal Degeneration Conditions
Green Green List (high evidence)
PEX7
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
  • Refsum disease
Green Green List (high evidence)
PHYH
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
  • Refsum disease
Green Green List (high evidence)
PLA2G5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
Green Green List (high evidence)
PRCD
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
  • Retinitis pigmentosa
  • Retinitis Pigmentosa, Recessive
  • Retinitis pigmentosa 36, 610599
Green Green List (high evidence)
PROM1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Cone - rod dystrophy 12
  • Macular dystrophy, retinal, 2
  • Retinitis pigmentosa 41
  • Stargardt disease 4
  • Retinal Macular Dystrophy
  • Retinitis pigmentosa 41, 612095
  • Cone-rod dystrophy 12, 612657
  • Stargardt disease 4, 603786
  • Macular dystrophy, retinal, 2, 608051
  • Stargardt Disease, Dominant
  • Macular Dystrophy/Degeneration/Stargardt Disease
  • Eye Disorders
  • Retinitis pigmentosa
  • Retinitis Pigmentosa, Recessive
  • Cone-Rod Dystrophy, Dominant
  • Retinitis pigmentosa 41, 612095
Green Green List (high evidence)
PRPF3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Retinitis pigmentosa 18
  • Eye Disorders
  • Retinitis Pigmentosa, Dominant
  • Retinitis pigmentosa
  • Retinitis pigmentosa 18
Green Green List (high evidence)
PRPF31
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Retinitis pigmentosa 11
  • Eye Disorders
  • Retinitis Pigmentosa, Dominant
  • Retinitis pigmentosa
  • Retinitis pigmentosa 11, 600138
Green Green List (high evidence)
PRPF4
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Retinitis pigmentosa 70
Green Green List (high evidence)
PRPF6
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Retinitis pigmentosa 60
  • Eye Disorders
  • Retinitis Pigmentosa, Dominant
  • Retinitis pigmentosa
  • Retinitis pigmentosa 60, 613983
Green Green List (high evidence)
PRPF8
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Retinitis pigmentosa 13
  • Eye Disorders
  • Retinitis Pigmentosa, Dominant
  • Retinitis pigmentosa
  • Retinitis pigmentosa 13, 600059
Green Green List (high evidence)
PRPH2
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
Green Green List (high evidence)
PRPS1
1 review
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • retinal dystrophy
Green Green List (high evidence)
RAB28
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cone-rod dystrophy 18, 615374
Green Green List (high evidence)
RAX2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Macular Degeneration
  • Eye Disorders
  • Cone-Rod Dystrophy, Dominant
  • Cone-rod dystrophy 11
Green Green List (high evidence)
RBP3
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
  • Retinitis Pigmentosa, Recessive
  • Retinitis pigmentosa
  • ?Retinitis pigmentosa 66, 615233
Green Green List (high evidence)
RBP4
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Macular Dystrophy/Degeneration/Stargardt Disease
  • Congenital Stationary Night Blindness
  • Retinitis pigmentosa
Green Green List (high evidence)
RD3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leber Congenital Amaurosis
  • Leber congenital amaurosis 12, 610612
  • Eye Disorders
Green Green List (high evidence)
RDH12
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leber congenital amaurosis 13
  • Macular Dystrophy/Degeneration/Stargardt Disease
  • Leber congenital amaurosis 13, 612712
  • Eye Disorders
  • Retinitis Pigmentosa, Recessive
  • Retinitis pigmentosa
Green Green List (high evidence)
RDH5
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Congenital Stationary Night Blindness
  • Fundus albipunctatus, 136880
  • Fundus albipunctatus
Green Green List (high evidence)
RGR
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
  • Retinitis Pigmentosa, Recessive
  • Retinitis pigmentosa
  • Retinitis pigmentosa 44, 613769
Green Green List (high evidence)
RGS9
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Eye Disorders
Green Green List (high evidence)
RHO
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Night blindness, congenital stationary autosomal dominant 1
  • Retinitis pigmentosa
  • Retinitis punctata albescens
  • Congenital Stationary Night Blindness
  • Retinitis pigmentosa 4, autosomal dominant or recessive, 613731
  • Retinitis Pigmentosa, Dominant/Recessive
  • Retinitis pigmentosa
Green Green List (high evidence)
RLBP1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Bothnia retinal dystrophy
  • Fundus albipunctatus
  • Newfoundland rod - cone dystrophy
  • Retinitis punctata albescens
  • Fundus albipunctatus, 136880
  • Fundus Albipunctatus
  • Eye Disorders
  • Retinitis Pigmentosa, Recessive
  • Retinitis pigmentosa
Green Green List (high evidence)
RP1
4 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Retinitis pigmentosa 1
  • Eye Disorders
  • Retinitis pigmentosa 1, 180100{Hypertriglyceridemia, susceptibility to}, 145750
  • Retinitis Pigmentosa, Dominant
  • Retinitis pigmentosa
  • rod-cone dystrophy
Green Green List (high evidence)
RP1L1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Occult Macular Dystrophy
  • Occult macular dystrophy, 613587
Green Green List (high evidence)
RP2
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Retinitis pigmentosa 2
  • RP2-related X-linked Retinitis Pigmentosa
  • Eye Disorders
  • Retinitis pigmentosa
  • Retinitis pigmentosa 2, 312600
  • Retinitis Pigmentosa, X-linked
Green Green List (high evidence)
RP9
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
  • Retinitis Pigmentosa, Dominant
  • Retinitis pigmentosa
  • Retinitis pigmentosa 9, 180104
Green Green List (high evidence)
RPE65
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leber congenital amaurosis 2
  • Retinitis pigmentosa 20
  • Leber Congenital Amaurosis
  • Leber congenital amaurosis 2, 204100
  • Eye Disorders
  • Retinitis Pigmentosa, Recessive
  • Retinitis pigmentosa
Tags
  • gene-therapy-trial
Green Green List (high evidence)
RPGR
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Cone - rod dystrophy - 1
  • Macular degeneration, X - linked atrophic
  • Retinitis pigmentosa 3
  • Retinitis pigmentosa, X -linked, and sinorespiratory infections, with or without deafness
  • Retinitis pigmentosa 3, 300029Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455Macular degeneration, X-linked atrophic, 300834Cone-rod dystrophy, X-linked, 1, 304020
  • 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
  • Macular Dystrophy/Degeneration/Stargardt Disease
  • RPGR-related X-linked Retinitis Pigmentosa
  • Eye Disorders
  • Retinitis pigmentosa
Tags
  • gene-therapy-trial
Green Green List (high evidence)
RPGRIP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Cone - rod dystrophy 13
  • Leber congenital amaurosis 6
  • Macular Dystrophy/Degeneration/Stargardt Disease
  • Leber Congenital Amaurosis
  • Leber congenital amaurosis 6, 613826
  • Eye Disorders
  • Retinitis pigmentosa
  • Cone-Rod Dystrophy, Recessive
  • Leber congenital amaurosis 6, 613826Cone-rod dystrophy 13, 608194
Green Green List (high evidence)
RPGRIP1L
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • COACH syndrome
  • Joubert syndrome 7
  • Meckel syndrome 5
  • Eye Disorders
Green Green List (high evidence)
RS1
1 review
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
  • Eligibility statement prior genetic testing
Phenotypes
  • Developmental macular and foveal dystrophy (males with foveal schisis)
  • Eye Disorders
Green Green List (high evidence)
SAG
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Oguchi disease - 1
  • Retinitis pigmentosa 47
  • Oguchi Disease
  • Congenital Stationary Night Blindness
  • Oguchi disease-1, 258100
  • Retinitis Pigmentosa, Recessive
  • Retinitis pigmentosa
Green Green List (high evidence)
SDCCAG8
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
Green Green List (high evidence)
SEMA4A
2 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Eye Disorders
  • Cone-rod dystrophy 10, 610283Retinitis pigmentosa 35, 610282
  • Retinitis Pigmentosa, Recessive
  • Retinitis pigmentosa
Green Green List (high evidence)
SLC24A1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital Stationary Night Blindness
  • Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830
Green Green List (high evidence)
SLC38A8
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218
Green Green List (high evidence)
SNRNP200
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
  • Retinitis Pigmentosa, Dominant
  • Retinitis pigmentosa
  • Retinitis pigmentosa 33, 610359
Green Green List (high evidence)
SPATA7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leber congenital amaurosis 3
  • Retinitis pigmentosa, juvenile, autosomal recessive
  • Leber Congenital Amaurosis
  • Leber congenital amaurosis 3, 604232
  • Retinitis pigmentosa, juvenile, autosomal recessive
  • Eye Disorders
  • Leber congenital amaurosis 3, 604232Retinitis pigmentosa, juvenile, autosomal recessive, 604232
  • Retinitis Pigmentosa, Recessive
  • Retinitis pigmentosa
Green Green List (high evidence)
TIMP3
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Sorsby fundus dystrophy
  • Eye Disorders
  • Macular Dystrophy/Degeneration/Stargardt Disease
Green Green List (high evidence)
TMEM237
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
Green Green List (high evidence)
TOPORS
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Retinitis pigmentosa 31
  • Eye Disorders
  • Retinitis pigmentosa 31, 609923
  • Retinitis Pigmentosa, Dominant
  • Retinitis pigmentosa
Green Green List (high evidence)
TRIM32
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
Green Green List (high evidence)
TRPM1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Night blindness, congenital stationary (complete), 1C, autosomal recessive
  • Congenital Stationary Night Blindness
  • Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216
Green Green List (high evidence)
TSPAN12
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
Green Green List (high evidence)
TTC8
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
  • Bardet-Biedl syndrome 8, 209900
  • Retinitis pigmentosa 51, 613464
  • Retinitis Pigmentosa, Recessive
  • Retinitis pigmentosa
  • ?Retinitis pigmentosa 51
Green Green List (high evidence)
TUB
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Genetic Retinal Degeneration Conditions
Tags
  • watchlist
Green Green List (high evidence)
TULP1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leber congenital amaurosis 15
  • Retinitis pigmentosa 14
  • Leber Congenital Amaurosis
  • Retinitis pigmentosa 14, 600132
  • Eye Disorders
  • Retinitis pigmentosa 14, 600132Leber congenital amaurosis 15, 613843
  • Retinitis Pigmentosa, Recessive
  • Retinitis pigmentosa
Green Green List (high evidence)
USH1C
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
Green Green List (high evidence)
USH1G
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
Green Green List (high evidence)
USH2A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Retinitis pigmentosa
  • Usher syndrome, type 2A
  • Eye Disorders
  • Usher syndrome, type 2A, 276901Retinitis pigmentosa 39, 613809
  • Retinitis Pigmentosa, Recessive
  • Retinitis pigmentosa
Green Green List (high evidence)
VCAN
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Wagner Syndrome
  • Eye Disorders
Green Green List (high evidence)
VPS13B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Genetic Retinal Degeneration Conditions
Green Green List (high evidence)
WDPCP
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
Green Green List (high evidence)
WDR19
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Genetic Retinal Degeneration Conditions
Green Green List (high evidence)
ZNF408
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Familial exudative vitreoretinopathy (FEVR)
Green Green List (high evidence)
ZNF423
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Eye Disorders
Amber Amber List (moderate evidence)
CYP2R1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Vogt-Koyanagi-Harada disease
  • Rickets due to defect in vitamin D 25-hydroxylation 600081
Amber Amber List (moderate evidence)
HK1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Retinitis pigmentosa 79 617460
Tags
  • founder-effect
Red Red List (low evidence)
ACBD5
1 review
1 red
Not set
Sources
  • Expert Review Red
Phenotypes
  • No OMIM disease ID
  • novel variant reported in PMID: 23105016 in family with cone-rod dystrophyand psychomotor delay associated with significant white matter involvement
Red Red List (low evidence)
ADGRA3
2 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
Red Red List (low evidence)
AMN
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Red Red List (low evidence)
ARL13B
1 review
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
ARMS2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Macular Degeneration
Red Red List (low evidence)
ATP13A2
1 review
1 red
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
B3GLCT
2 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
BBIP1
1 review
1 red
Not set
Sources
  • Expert Review Red
Phenotypes
  • Genetic Retinal Degeneration Conditions
Red Red List (low evidence)
BCOR
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
BMP4
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
C2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Macular Degeneration
Red Red List (low evidence)
C3
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Macular Degeneration
Red Red List (low evidence)
C5orf42
1 review
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Tags
  • new-gene-name
Red Red List (low evidence)
CACNA2D4
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Retinal cone dystrophy 4, 610478
  • Congenital Stationary Night Blindness
  • Achromatopsia, Cone, and Cone-rod Dystrophy
Red Red List (low evidence)
CCZ1B
1 review
1 red
Not set
Sources
  • Literature
Phenotypes
  • Retinitis pigmentosa
Red Red List (low evidence)
CEP41
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
CFB
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Macular Degeneration
Red Red List (low evidence)
CFH
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Macular Degeneration
Red Red List (low evidence)
CLN5
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
CLN6
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
CLN8
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
COL11A1
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
COL11A2
1 review
1 green
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
COL18A1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Knobloch Syndrome Type I
Red Red List (low evidence)
COL2A1
1 review
1 green
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
COL9A1
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
COL9A2
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
CROCC
1 review
1 red
Not set
Sources
  • Literature
Phenotypes
  • Retinitis pigmentosa
Red Red List (low evidence)
CTSD
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
CUBN
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Megaloblastic anemia-1, Finnish type
Red Red List (low evidence)
CYP1B1
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
CYP27A1
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
DHX38
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • No OMIM disease ID
Red Red List (low evidence)
DTHD1
2 reviews
1 red
Not set
Sources
  • Expert Review Red
Phenotypes
  • No OMIM disease ID
Red Red List (low evidence)
EMC1
2 reviews
1 red
Not set
Sources
  • Expert Review Red
Phenotypes
  • No OMIM disease ID
Red Red List (low evidence)
FAM57B
1 review
1 red
Not set
Sources
  • Literature
Phenotypes
  • Cone-rod dystrophy
Red Red List (low evidence)
FAM71A
1 review
1 red
Not set
Sources
  • Literature
Phenotypes
  • Retinitis pigmentosa
Red Red List (low evidence)
FBLN5
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Macular Degeneration
Red Red List (low evidence)
FOXC1
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
FOXE3
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
FOXI2
1 review
1 red
Not set
Sources
  • Literature
Phenotypes
  • Retinitis pigmentosa
Red Red List (low evidence)
FRAS1
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
FREM1
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
FREM2
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
FSCN2
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Macular Dystrophy/Degeneration/Stargardt Disease
  • Eye Disorders
  • Retinitis pigmentosa
  • Retinitis pigmentosa 30, 607921
Red Red List (low evidence)
FUT5
1 review
1 red
Not set
Sources
  • Literature
Phenotypes
  • Retinal dystrophy
Red Red List (low evidence)
GDF6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Klippel-Feil syndrome 1, autosomal dominant, 118100
  • Leber congenital amaurosis 17
  • Microphthalmia with coloboma 6, digenic
  • Microphthalmia, isolated 4
Red Red List (low evidence)
GP1BA
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Bernard-Soulier syndrome, type A1 (recessive), 231200
Red Red List (low evidence)
GRIP1
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
GRN
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
HCCS
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
HMCN1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Macular Degeneration
Red Red List (low evidence)
HTRA1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Macular Degeneration
Red Red List (low evidence)
INVS
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
  • Nephronophthisis 2, infantile
Red Red List (low evidence)
IRX5
1 review
1 red
Not set
Sources
  • Literature
Phenotypes
  • Retinitis pigmentosa
Red Red List (low evidence)
ITIH2
1 review
1 red
Not set
Sources
  • Literature
Phenotypes
  • Stargardt disease
Red Red List (low evidence)
ITM2B
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • ?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities (OMIM)
Red Red List (low evidence)
KCTD7
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
KIAA1549
2 reviews
1 red
Not set
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
Red Red List (low evidence)
KIF7
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
KIZ
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Retinitis pigmentosa 69
Red Red List (low evidence)
LRMDA
1 review
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
LRP2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Donnai-Barrow syndrome
Red Red List (low evidence)
MFN2
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Optic Atrophy
  • Eye Disorders
Red Red List (low evidence)
MFSD8
1 review
1 green
Not set
Sources
  • Expert Review Red
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 7, 610951
  • Macular dystrophy with central cone involvement, 616170
  • Eye Disorders
Red Red List (low evidence)
MT-ATP6
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Red
Phenotypes
  • Retinitis pigmentosa
Red Red List (low evidence)
MT-ND1
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Red
Red Red List (low evidence)
MT-ND4
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Red
Red Red List (low evidence)
MT-ND6
1 review
MITOCHONDRIAL
Sources
  • Expert Review Red
Tags
  • watchlist
Red Red List (low evidence)
MT-TL1
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Red
Phenotypes
  • Retinitis pigmentosa
Red Red List (low evidence)
MTTP
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
MVK
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Hyper-IgD syndrome
  • Mevalonic aciduria
Red Red List (low evidence)
MYOC
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
NAALADL1
1 review
1 red
Not set
Sources
  • Literature
Phenotypes
  • Retinitis pigmentosa
Red Red List (low evidence)
NEK2
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • ?Retinitis pigmentosa 67, 615565
Red Red List (low evidence)
NR2F1
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Bosch-Boonstra-Schaaf optic atrophy syndrome, 615722
Red Red List (low evidence)
NUMB
1 review
1 red
Not set
Sources
  • Literature
Phenotypes
  • Cone-rod dystrophy
Red Red List (low evidence)
OCA2
1 review
1 green
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
OPA1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
OPA3
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Autosomal Dominant Optic Atrophy
  • Eye Disorders
Red Red List (low evidence)
OPN1LW
1 review
1 green
Not set
Sources
  • Expert Review Red
Red Red List (low evidence)
OPN1MW
0 reviews
Not set
Sources
  • Expert Review Red
Red Red List (low evidence)
OR2M7
1 review
1 red
Not set
Sources
  • Literature
Phenotypes
  • Other (any phenotype with frequency of fewer than eight individuals)
Red Red List (low evidence)
P3H2
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Myopia, high, with cataract and vitreoretinal degeneration, 614292 -3
Red Red List (low evidence)
PAX6
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Red
Phenotypes
  • Foveal Hypoplasia and Presenile Cataract Syndrome
  • Developmental macular and foveal dystrophy (foveal hypoplasia in the context of aniridia)
Red Red List (low evidence)
PDAP1
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Retinitis Pigmentosa
Red Red List (low evidence)
PDE6H
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Retinal Cone Dystrophy
  • Achromatopsia 6
  • Retinal cone dystrophy 3
  • Eye Disorders
  • Achromatopsia, Cone, and Cone-rod Dystrophy
Red Red List (low evidence)
PDZD7
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
PITPNM3
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Eye Disorders
  • Cone-Rod Dystrophy, Dominant
  • Cone-rod dystrophy 5, 600977
Red Red List (low evidence)
PITX2
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
PITX3
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
PLD4
1 review
1 red
Not set
Sources
  • Literature
Phenotypes
  • Usher syndrome
Red Red List (low evidence)
POC1B
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Cone-rod dystrophy 20, 615973
Red Red List (low evidence)
PODNL1
1 review
1 red
Not set
Sources
  • Literature
Phenotypes
  • Retinal dystrophy
Red Red List (low evidence)
POMZP3
1 review
1 red
Not set
Sources
  • Literature
Phenotypes
  • Cone dystrophy
Red Red List (low evidence)
PPT1
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
PRTFDC1
1 review
1 red
Not set
Sources
  • Literature
Phenotypes
  • Retinitis pigmentosa
Red Red List (low evidence)
RB1
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Retinoblastoma
Red Red List (low evidence)
RCBTB1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • familial exudative vitreoretinopathy
  • Coats disease
Red Red List (low evidence)
RGS9BP
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Eye Disorders
Red Red List (low evidence)
RIMS1
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Eye Disorders
  • Cone-Rod Dystrophy, Dominant
  • Cone-rod dystrophy 7, 603649
Red Red List (low evidence)
ROM1
2 reviews
Other - please specifiy in evaluation comments
Sources
  • Expert Review Red
Phenotypes
  • Retinitis pigmentosa 7, digenic
  • Eye Disorders
  • Retinitis Pigmentosa, Dominant
  • Retinitis pigmentosa
  • Retinitis pigmentosa 7, digenic, 608133
Red Red List (low evidence)
SCAPER
1 review
1 red
Not set
Sources
  • Literature
Phenotypes
  • More than one phenotype including syndromic cases for syndromic forms of Inherited retinal disease or albinism
Red Red List (low evidence)
SLC24A5
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
SLC37A3
1 review
1 red
Not set
Sources
  • Literature
Phenotypes
  • Retinitis pigmentosa
Red Red List (low evidence)
SLC45A2
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
SLC7A14
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Retinitis pigmentosa 68, 615725 (3)
Red Red List (low evidence)
SMOC1
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
SOX2
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
  • Retinitis pigmentosa 33, 610359
Red Red List (low evidence)
SPG7
0 reviews
Not set
Sources
  • Expert Review Red
Red Red List (low evidence)
STRA6
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
TCTN1
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
TCTN2
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
TCTN3
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
TEAD1
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Red Red List (low evidence)
TEX28
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
Red Red List (low evidence)
TIMM8A
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
TMEM126A
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Optic Atrophy, Recessive
  • Eye Disorders
Red Red List (low evidence)
TMEM216
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
TMEM67
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
TPP1
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
TTC21B
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
TTLL5
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Cone-rod dystrophy 19,615860
Red Red List (low evidence)
TYR
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
TYRP1
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
UBAP1L
1 review
1 red
Not set
Sources
  • Literature
Phenotypes
  • Retinitis pigmentosa
Red Red List (low evidence)
UNC119
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Eye Disorders
  • Cone-Rod Dystrophy, Dominant
  • CD4 lymphopenia, idiopathic (Gorska (2012) Blood 119, 1399)
Red Red List (low evidence)
VAX1
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
VSX2
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
WASF3
1 review
1 red
Not set
Sources
  • Literature
Phenotypes
  • Cone-rod dystrophy
Red Red List (low evidence)
WFS1
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
WT1
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red Red List (low evidence)
ZNF513
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Eye Disorders
  • Retinitis Pigmentosa, Dominant
  • Retinitis pigmentosa
  • Retinitis pigmentosa 58, 613617
No list No list
EVR3
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • Expert list
Phenotypes
  • Exudative vitreoretinopathy 3
Tags
  • locus-type-phenotype-only

0 STRs

0 reviewed, 0 green

List STR Reviews Mode of inheritance Details
0 STRss

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