Description
This panel is used as a virtual panel to analyse genome or exome data in the NHS Genomic Medicine Service; the panel will routinely be applied for clinical indication 'R32 Retinal disorders', ‘R33 Possible X-linked retinitis pigmentosa’, ‘R34 Sorsby retinal dystrophy’ and ‘R35 Doyne retinal dystrophy’ but can also be used as part of the analysis for a broader clinical presentation, where relevant.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R32 Retinal disorders', ‘R33 Possible X-linked retinitis pigmentosa’, R34 Sorsby retinal dystrophy’ and ‘R35 Doyne retinal dystrophy’.

The content of this panel is overseen by NHS Genomic Medicine Service governance. 

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

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

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,Alba Sanchis-Juan, Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust

19 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Tom Cullup (Great Ormond Street Hospital)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Simon Ramsden (NHS)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Andrew Webster (Moorfields Eye Hospital)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Robert Henderson (Great Ormond Street Hospital)

    Group: NHS Genomic Medicine Centre
    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

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

320 Entities

320 reviewed, 189 green

List Entity Reviews Mode of inheritance Details
320 Entitiess
Green Green List (high evidence)
ABCA4
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
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
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
  • Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa andCataract (PHARC)
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857
Tags
Green Green List (high evidence)
ACO2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Infantile cerebellar-retinal degeneration, 614559
Tags
Green Green List (high evidence)
ADAM9
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Eye Disorders
  • Cone-Rod Dystrophy, Recessive
  • Cone-rod dystrophy 9, 612775
Tags
Green Green List (high evidence)
ADAMTS18
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Genetic Retinal Degeneration Conditions
  • Microcornea, myopic chorioretinal atrophy, and telecanthus
Tags
Green Green List (high evidence)
ADGRV1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Usher syndrome, type 2C
  • Eye Disorders
Tags
Green Green List (high evidence)
AGBL5
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Retinitis pigmentosa
  • Retinitis pigmentosa 75 617023
Tags
Green Green List (high evidence)
AHI1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
  • Joubert syndrome 17
Tags
Green Green List (high evidence)
AIPL1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
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
Tags
Green Green List (high evidence)
ALMS1
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
  • Alstrom syndrome
Tags
Green Green List (high evidence)
ARHGEF18
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Retinitis pigmentosa 78 617433
Tags
Green Green List (high evidence)
ARL2BP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa with or without situs inversus, 615434
Tags
Green Green List (high evidence)
ARL6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
  • Bardet-Biedl syndrome 3, 209900
  • {Bardet-Biedl syndrome 1, modifier of}, 209900
  • Retinitis pigmentosa 55, 613575
  • Retinitis Pigmentosa, Recessive
Tags
Green Green List (high evidence)
ATF6
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Achromatopsia 7
Tags
Green Green List (high evidence)
ATOH7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
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
Tags
Green Green List (high evidence)
BBS1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
  • Retinitis pigmentosa
Tags
Green Green List (high evidence)
BBS10
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
  • Bardet-Biedl syndrome 10
Tags
Green Green List (high evidence)
BBS12
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
  • Bardet-Biedl syndrome 12
Tags
Green Green List (high evidence)
BBS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
  • Bardet-Biedl syndrome 2
  • Retinitis pigmentosa 74
Tags
Green Green List (high evidence)
BBS4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
  • Bardet-Biedl syndrome 4
Tags
Green Green List (high evidence)
BBS5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
  • Bardet-Biedl syndrome 5
Tags
Green Green List (high evidence)
BBS7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Green Green List (high evidence)
BBS9
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Green Green List (high evidence)
BEST1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
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
Tags
Green Green List (high evidence)
C1QTNF5
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
  • Retinal Degeneration
  • Retinitis pigmentosa
  • Retinal degeneration, late-onset, autosomal dominant, 605670
Tags
Green Green List (high evidence)
C21orf2
5 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Retinal dystrophy with macular staphyloma, 617547
Tags
  • new-gene-name
Green Green List (high evidence)
C2orf71
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
  • Retinitis pigmentosa 54, 613428
  • Retinitis pigmentosa
  • Retinitis Pigmentosa, Recessive
Tags
  • new-gene-name
Green Green List (high evidence)
C8orf37
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Eye Disorders
  • Retinitis pigmentosa 64, 614500Cone-rod dystrophy 16, 614500
  • Retinitis pigmentosa
  • Retinitis Pigmentosa, Recessive
Tags
Green Green List (high evidence)
CABP4
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
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
Tags
Green Green List (high evidence)
CACNA1F
3 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
  • NHS GMS
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
Tags
Green Green List (high evidence)
CACNA2D4
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Retinal cone dystrophy 4, 610478
  • Congenital Stationary Night Blindness
  • Achromatopsia, Cone, and Cone-rod Dystrophy
Tags
Green Green List (high evidence)
CAPN5
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Genetic Retinal Degeneration Conditions
Tags
Green Green List (high evidence)
CC2D2A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • COACH syndrome
  • Joubert syndrome 9
  • Meckel syndrome 6
  • Eye Disorders
Tags
Green Green List (high evidence)
CDH23
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Green Green List (high evidence)
CDH3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
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
Tags
Green Green List (high evidence)
CDHR1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Eye Disorders
  • Cone-Rod Dystrophy, Recessive
  • Cone-rod dystrophy 15, 613660
Tags
Green Green List (high evidence)
CEP164
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Genetic Retinal Degeneration Conditions
Tags
Green Green List (high evidence)
CEP290
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
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
Tags
Green Green List (high evidence)
CEP78
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Cone-Rod Dystrophy and Hearing Loss
  • CRDHL
  • OMIM: 617236
Tags
Green Green List (high evidence)
CERKL
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 26, RP26 (AR)
  • Eye Disorders
  • Retinitis pigmentosa
  • Retinitis Pigmentosa, Recessive
  • Retinitis pigmentosa 26, 608380
Tags
Green Green List (high evidence)
CFH
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • {Macular degeneration, age-related, 4} 610698
  • Basal laminar drusen, 126700
Tags
Green Green List (high evidence)
CHM
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
  • NHS GMS
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
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Green Green List (high evidence)
CLN3
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
  • Retinitis pigmentosa
Tags
Green Green List (high evidence)
CLRN1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
  • ?Usher syndrome, type 3A, 276902Retinitis pigmentosa 61, 614180
  • Retinitis Pigmentosa, Dominant
  • Retinitis pigmentosa
Tags
Green Green List (high evidence)
CNGA1
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 49, RP49 (AR)
  • Eye Disorders
  • Retinitis pigmentosa
  • Retinitis Pigmentosa, Recessive
  • Retinitis pigmentosa 49, 613756
Tags
Green Green List (high evidence)
CNGA3
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Achromatopsia
  • Achromatopsia-2
  • Eye Disorders
  • Achromatopsia, Cone, and Cone-rod Dystrophy
Tags
Green Green List (high evidence)
CNGB1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 45, RP45 (AR)
  • Eye Disorders
  • Retinitis pigmentosa
  • Retinitis Pigmentosa, Recessive
  • Retinitis pigmentosa 45, 613767
Tags
Green Green List (high evidence)
CNGB3
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
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
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Eye Disorders
  • Jalili syndrome
Tags
Green Green List (high evidence)
COL4A1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Green Green List (high evidence)
CRB1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
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
Tags
Green Green List (high evidence)
CRX
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
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
Tags
Green Green List (high evidence)
CSPP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Genetic Retinal Degeneration Conditions
  • Joubert syndrome 21
Tags
Green Green List (high evidence)
CTNNB1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Exudative vitreoretinopathy 7 617572
Tags
Green Green List (high evidence)
CWC27
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa with or without skeletal anomalies, 250410
Tags
Green Green List (high evidence)
CYP4V2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Bietti crystalline corneoretinal dystrophy, 210370
  • Eye Disorders
  • Retinitis pigmentosa
Tags
Green Green List (high evidence)
DHDDS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
  • Retinitis pigmentosa
  • Retinitis Pigmentosa, Recessive
  • Retinitis pigmentosa 59, 613861
Tags
Green Green List (high evidence)
EFEMP1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Macular Dystrophy/Degeneration/Stargardt Disease
  • Inherited macular dystrophy (Doyne/dominant drusen)
Tags
Green Green List (high evidence)
ELOVL4
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
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
Tags
Green Green List (high evidence)
ERCC6
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cockayne syndrome, type B 133540
Tags
Green Green List (high evidence)
ERCC8
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cockayne syndrome, type A 216400
Tags
Green Green List (high evidence)
EYS
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 25
  • Eye Disorders
  • Retinitis pigmentosa
  • Retinitis Pigmentosa, Recessive
  • Retinitis pigmentosa 25, 602772
Tags
Green Green List (high evidence)
FAM161A
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
  • Retinitis pigmentosa 28, 606068
  • Retinitis pigmentosa
  • Retinitis Pigmentosa, Recessive
Tags
Green Green List (high evidence)
FLVCR1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
  • Posterior Column Ataxia with Retinitis Pigmentosa
  • Ataxia, posterior column, with retinitis pigmentosa, 609033
  • Retinitis pigmentosa
Tags
Green Green List (high evidence)
FZD4
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Green Green List (high evidence)
GNAT1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Congenital Stationary Night Blindness
  • Night blindness, congenital stationary, autosomal dominant 3, 610444
Tags
Green Green List (high evidence)
GNAT2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Achromatopsia
  • Achromatopsia-4
  • Eye Disorders
  • Achromatopsia, Cone, and Cone-rod Dystrophy
Tags
Green Green List (high evidence)
GNPTG
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Genetic Retinal Degeneration Conditions
  • Mucolipidosis III gamma
Tags
Green Green List (high evidence)
GPR143
5 reviews
4 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
  • NHS GMS
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
Tags
Green Green List (high evidence)
GPR179
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Congenital Stationary Night Blindness
  • Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565
Tags
Green Green List (high evidence)
GRK1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Oguchi disease-2, 613411
Tags
Green Green List (high evidence)
GRM6
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Congenital Stationary Night Blindness
  • Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270
Tags
Green Green List (high evidence)
GUCA1A
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cone dystrophy-3, 602093
  • Eye Disorders
  • Achromatopsia, Cone, and Cone-rod Dystrophy
Tags
Green Green List (high evidence)
GUCA1B
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Macular Dystrophy/Degeneration/Stargardt Disease
  • Eye Disorders
  • Retinitis Pigmentosa, Dominant
  • Retinitis pigmentosa
  • Retinitis pigmentosa 48, 613827
Tags
Green Green List (high evidence)
GUCY2D
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
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
Tags
Green Green List (high evidence)
HARS
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
  • Usher syndrome type 3B
  • Usher syndrome
Tags
  • new-gene-name
Green Green List (high evidence)
HGSNAT
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Retinitis pigmentosa 73
Tags
Green Green List (high evidence)
HMX1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Tags
Green Green List (high evidence)
IDH3A
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Retinitis Pigmentosa
  • Pseudocoloboma
Tags
Green Green List (high evidence)
IDH3B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
  • Retinitis pigmentosa 46, 612572
  • Retinitis pigmentosa
  • Retinitis Pigmentosa, Recessive
Tags
Green Green List (high evidence)
IFT140
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Genetic Retinal Degeneration Conditions
Tags
Green Green List (high evidence)
IMPDH1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
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
Tags
Green Green List (high evidence)
IMPG1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Macular dystrophy, vitelliform, 4
Tags
Green Green List (high evidence)
IMPG2
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Maculopathy, IMPG2 - related
  • Retinitis pigmentosa 56
  • Eye Disorders
  • Retinitis pigmentosa
  • Retinitis pigmentosa 56, 613581
  • Retinitis Pigmentosa, Recessive
Tags
Green Green List (high evidence)
INPP5E
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Genetic Retinal Degeneration Conditions
Tags
Green Green List (high evidence)
IQCB1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Senior-Loken syndrome 5 (nephronophthisis and Leber congenital amaurosis)
  • Leber congenital amaurosis
  • Eye Disorders
Tags
Green Green List (high evidence)
KCNJ13
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Leber congenital amaurosis 16, 614186
  • Leber Congenital Amaurosis
  • Eye Disorders
  • Snowflake vitreoretinal degeneration, 193230
Tags
Green Green List (high evidence)
KCNV2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Retinal Cone Dystrophy
  • Eye Disorders
  • Achromatopsia, Cone, and Cone-rod Dystrophy
Tags
Green Green List (high evidence)
KIAA1549
4 reviews
1 green 1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Green Green List (high evidence)
KIF11
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Genetic Retinal Degeneration Conditions
Tags
Green Green List (high evidence)
KLHL7
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 42
  • Eye Disorders
  • Retinitis Pigmentosa, Dominant
  • Retinitis pigmentosa
  • Retinitis pigmentosa 42, 612943
Tags
Green Green List (high evidence)
LCA5
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Leber congenital amaurosis 5
  • Leber Congenital Amaurosis
  • Leber congenital amaurosis 5, 604537
  • Eye Disorders
  • Leber congenital amaurosis 5
Tags
Green Green List (high evidence)
LRAT
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
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
Tags
Green Green List (high evidence)
LRIT3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Congenital Stationary Night Blindness
  • Congenital Stationary Night Blindness, Recessive
  • Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058
Tags
Green Green List (high evidence)
LRP2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE consortium (NIHRBR-RD)
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Donnai-Barrow syndrome 222448
Tags
Green Green List (high evidence)
LRP5
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
  • Exudative vitreoretinopathy 4
Tags
Green Green List (high evidence)
LZTFL1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
  • Bardet-Biedl syndrome 17
Tags
Green Green List (high evidence)
MAK
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
  • Retinitis pigmentosa 62, 614181
  • Retinitis pigmentosa
  • Retinitis Pigmentosa, Recessive
Tags
Green Green List (high evidence)
MERTK
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
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
Tags
Green Green List (high evidence)
MFRP
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Green Green List (high evidence)
MFSD8
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 7, 610951
  • Macular dystrophy with central cone involvement, 616170
  • Eye Disorders
Tags
Green Green List (high evidence)
MKKS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Green Green List (high evidence)
MKS1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Green Green List (high evidence)
MYO7A
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Green Green List (high evidence)
NDP
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
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Green Green List (high evidence)
NMNAT1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Leber congenital amaurosis 9, 608553
Tags
Green Green List (high evidence)
NPHP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Green Green List (high evidence)
NPHP3
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Green Green List (high evidence)
NPHP4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Green Green List (high evidence)
NR2E3
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Enhanced S - cone syndrome (AR)
  • Retinitis pigmentosa 37 (AD and AR)
  • Eye Disorders
  • Retinitis pigmentosa
  • Retinitis Pigmentosa, Recessive
  • Enhanced S-cone syndrome, 268100
Tags
Green Green List (high evidence)
NRL
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Retinal degeneration, autosomal recessive, clumped pigment type (AR)
  • Retinitis pigmentosa 27 (AD)
  • Eye Disorders
  • Retinitis Pigmentosa, Dominant
  • Retinitis pigmentosa
  • Retinitis pigmentosa 27, 613750
Tags
Green Green List (high evidence)
NYX
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Congenital Stationary Night Blindness
  • Congenital Stationary Night Blindness, X-linked
  • Night blindness, congenital stationary (complete), 1A, X-linked, 310500
Tags
Green Green List (high evidence)
OAT
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Green Green List (high evidence)
OFD1
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Joubert syndrome 10
  • Eye Disorders
  • ?Retinitis pigmentosa 23, 300424Joubert syndrome 10, 300804Orofaciodigital syndrome I, 311200Simpson-Golabi-Behmel syndrome, type 2, 300209
  • Retinitis pigmentosa
Tags
Green Green List (high evidence)
OPN1LW
3 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Blue cone monochromacy, 303700
Tags
Green Green List (high evidence)
OPN1MW
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Blue cone monochromacy, 303700
Tags
Green Green List (high evidence)
OTX2
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Microphthalmia, syndromic 5, 610125
  • early onset retinal dystrophy
  • autosomal-dominant pattern dystrophy of the retinal pigment epithelium
  • Retinal Dystrophy
  • Eye Disorders
Tags
Green Green List (high evidence)
PANK2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • HARP syndrome
  • Neurodegeneration with brain iron accumulation 1
Tags
Green Green List (high evidence)
PCDH15
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Usher syndrome Type 1F
  • non-syndromic deafness
  • Usher syndrome, type 1D/F digenic
  • Eye Disorders
Tags
Green Green List (high evidence)
PCYT1A
5 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940
Tags
Green Green List (high evidence)
PDE6A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 43
  • Eye Disorders
  • Retinitis pigmentosa
  • Retinitis Pigmentosa, Recessive
  • Retinitis pigmentosa 43, 613810
Tags
Green Green List (high evidence)
PDE6B
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
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
Tags
Green Green List (high evidence)
PDE6C
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Achromatopsia
  • Cone dystrophy 4
  • Eye Disorders
  • Cone-Rod Dystrophy, Recessive
  • Achromatopsia, Cone, and Cone-rod Dystrophy
Tags
Green Green List (high evidence)
PDE6G
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
  • Retinitis pigmentosa
  • Retinitis Pigmentosa, Recessive
  • Retinitis pigmentosa 57, 613582
Tags
Green Green List (high evidence)
PEX1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Genetic Retinal Degeneration Conditions
Tags
Green Green List (high evidence)
PEX2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Genetic Retinal Degeneration Conditions
Tags
Green Green List (high evidence)
PEX7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
  • Refsum disease
Tags
Green Green List (high evidence)
PHYH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
  • Refsum disease
Tags
Green Green List (high evidence)
PLA2G5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Green Green List (high evidence)
POC1B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cone-rod dystrophy 20, 615973
Tags
Green Green List (high evidence)
PRCD
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
  • Retinitis pigmentosa
  • Retinitis Pigmentosa, Recessive
  • Retinitis pigmentosa 36, 610599
Tags
Green Green List (high evidence)
PROM1
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
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
Tags
Green Green List (high evidence)
PRPF3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 18
  • Eye Disorders
  • Retinitis Pigmentosa, Dominant
  • Retinitis pigmentosa
  • Retinitis pigmentosa 18
Tags
Green Green List (high evidence)
PRPF31
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 11
  • Eye Disorders
  • Retinitis Pigmentosa, Dominant
  • Retinitis pigmentosa
  • Retinitis pigmentosa 11, 600138
Tags
Green Green List (high evidence)
PRPF4
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 70
Tags
Green Green List (high evidence)
PRPF6
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 60
  • Eye Disorders
  • Retinitis Pigmentosa, Dominant
  • Retinitis pigmentosa
  • Retinitis pigmentosa 60, 613983
Tags
Green Green List (high evidence)
PRPF8
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 13
  • Eye Disorders
  • Retinitis Pigmentosa, Dominant
  • Retinitis pigmentosa
  • Retinitis pigmentosa 13, 600059
Tags
Green Green List (high evidence)
PRPH2
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
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
  • Literature
  • NHS GMS
Phenotypes
  • retinal dystrophy
Tags
Green Green List (high evidence)
RAB28
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cone-rod dystrophy 18, 615374
Tags
Green Green List (high evidence)
RAX2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Macular Degeneration
  • Eye Disorders
  • Cone-Rod Dystrophy, Dominant
  • Cone-rod dystrophy 11
Tags
Green Green List (high evidence)
RBP3
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
  • Retinitis Pigmentosa, Recessive
  • Retinitis pigmentosa
  • ?Retinitis pigmentosa 66, 615233
Tags
Green Green List (high evidence)
RBP4
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Macular Dystrophy/Degeneration/Stargardt Disease
  • Congenital Stationary Night Blindness
  • Retinitis pigmentosa
Tags
Green Green List (high evidence)
RCBTB1
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • familial exudative vitreoretinopathy
  • Coats disease
  • Retinal dystrophy with or without extraocular anomalies, 617175
Tags
Green Green List (high evidence)
RD3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Leber Congenital Amaurosis
  • Leber congenital amaurosis 12, 610612
  • Eye Disorders
Tags
Green Green List (high evidence)
RDH12
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Leber congenital amaurosis 13
  • Macular Dystrophy/Degeneration/Stargardt Disease
  • Leber congenital amaurosis 13, 612712
  • Eye Disorders
  • Retinitis Pigmentosa, Recessive
  • Retinitis pigmentosa
Tags
Green Green List (high evidence)
RDH5
4 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Congenital Stationary Night Blindness
  • Fundus albipunctatus, 136880
  • Fundus albipunctatus
Tags
Green Green List (high evidence)
REEP6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • retinitis pigmentosa
  • Retinitis pigmentosa 77, 617304
Tags
Green Green List (high evidence)
RGS9
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Eye Disorders
Tags
Green Green List (high evidence)
RHO
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
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
Tags
Green Green List (high evidence)
RLBP1
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
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
Tags
Green Green List (high evidence)
RP1
5 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 1
  • Eye Disorders
  • Retinitis pigmentosa 1, 180100{Hypertriglyceridemia, susceptibility to}, 145750
  • Retinitis Pigmentosa, Dominant
  • Retinitis pigmentosa
  • rod-cone dystrophy
Tags
Green Green List (high evidence)
RP1L1
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Occult Macular Dystrophy
  • Occult macular dystrophy, 613587
Tags
Green Green List (high evidence)
RP2
3 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 2
  • RP2-related X-linked Retinitis Pigmentosa
  • Eye Disorders
  • Retinitis pigmentosa
  • Retinitis pigmentosa 2, 312600
  • Retinitis Pigmentosa, X-linked
Tags
Green Green List (high evidence)
RP9
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
  • Retinitis Pigmentosa, Dominant
  • Retinitis pigmentosa
  • Retinitis pigmentosa 9, 180104
Tags
Green Green List (high evidence)
RPE65
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
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
3 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
  • NHS GMS
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
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
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
Tags
Green Green List (high evidence)
RPGRIP1L
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • COACH syndrome
  • Joubert syndrome 7
  • Meckel syndrome 5
  • Eye Disorders
Tags
Green Green List (high evidence)
RS1
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
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Developmental macular and foveal dystrophy (males with foveal schisis)
  • Eye Disorders
Tags
Green Green List (high evidence)
SAG
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Oguchi disease - 1
  • Retinitis pigmentosa 47
  • Oguchi Disease
  • Congenital Stationary Night Blindness
  • Oguchi disease-1, 258100
  • Retinitis Pigmentosa, Recessive
  • Retinitis pigmentosa
Tags
Green Green List (high evidence)
SCAPER
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • More than one phenotype including syndromic cases for syndromic forms of Inherited retinal disease or albinism
  • Intellectual developmental disorder and retinitis pigmentosa, 618195
Tags
Green Green List (high evidence)
SDCCAG8
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Green Green List (high evidence)
SLC24A1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Congenital Stationary Night Blindness
  • Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830
Tags
Green Green List (high evidence)
SLC38A8
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218
Tags
Green Green List (high evidence)
SNRNP200
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
  • Retinitis Pigmentosa, Dominant
  • Retinitis pigmentosa
  • Retinitis pigmentosa 33, 610359
Tags
Green Green List (high evidence)
SPATA7
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
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
Tags
Green Green List (high evidence)
SRD5A3
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Congenital disorder of glycosylation, type Iq, 612379
  • Kahrizi syndrome, 612713
Tags
Green Green List (high evidence)
TIMP3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Sorsby fundus dystrophy
  • Eye Disorders
  • Macular Dystrophy/Degeneration/Stargardt Disease
Tags
Green Green List (high evidence)
TMEM237
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Green Green List (high evidence)
TOPORS
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 31
  • Eye Disorders
  • Retinitis pigmentosa 31, 609923
  • Retinitis Pigmentosa, Dominant
  • Retinitis pigmentosa
Tags
Green Green List (high evidence)
TRIM32
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Green Green List (high evidence)
TRPM1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Night blindness, congenital stationary (complete), 1C, autosomal recessive
  • Congenital Stationary Night Blindness
  • Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216
Tags
Green Green List (high evidence)
TSPAN12
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Green Green List (high evidence)
TTC8
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
  • Bardet-Biedl syndrome 8, 209900
  • Retinitis pigmentosa 51, 613464
  • Retinitis Pigmentosa, Recessive
  • Retinitis pigmentosa
  • ?Retinitis pigmentosa 51
Tags
Green Green List (high evidence)
TTLL5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cone-rod dystrophy 19,615860
Tags
Green Green List (high evidence)
TUB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Genetic Retinal Degeneration Conditions
Tags
  • watchlist
Green Green List (high evidence)
TULP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
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
Tags
Green Green List (high evidence)
USH1C
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Green Green List (high evidence)
USH1G
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Green Green List (high evidence)
USH2A
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa
  • Usher syndrome, type 2A
  • Eye Disorders
  • Usher syndrome, type 2A, 276901Retinitis pigmentosa 39, 613809
  • Retinitis Pigmentosa, Recessive
  • Retinitis pigmentosa
Tags
Green Green List (high evidence)
VCAN
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Wagner Syndrome
  • Eye Disorders
Tags
Green Green List (high evidence)
VPS13B
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Genetic Retinal Degeneration Conditions
Tags
Green Green List (high evidence)
WDPCP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Green Green List (high evidence)
WDR19
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Genetic Retinal Degeneration Conditions
Tags
Green Green List (high evidence)
WHRN
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Green Green List (high evidence)
ZNF408
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Familial exudative vitreoretinopathy (FEVR)
Tags
Green Green List (high evidence)
ZNF423
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Amber Amber List (moderate evidence)
CA4
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Eye Disorders
  • Retinitis Pigmentosa, Dominant
  • Retinitis pigmentosa
  • Retinitis pigmentosa 17, 600852
Tags
Amber Amber List (moderate evidence)
CYP2R1
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
Phenotypes
  • Vogt-Koyanagi-Harada disease
  • Rickets due to defect in vitamin D 25-hydroxylation 600081
Tags
Amber Amber List (moderate evidence)
DHX38
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 84, 618220
Tags
Amber Amber List (moderate evidence)
HK1
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
  • Other
Phenotypes
  • Retinitis pigmentosa 79 617460
Tags
  • founder-effect
Amber Amber List (moderate evidence)
PDE6H
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Retinal Cone Dystrophy 3, 610024
  • Achromatopsia 6, 610024
  • Eye Disorders
  • Achromatopsia, Cone, and Cone-rod Dystrophy
Tags
Amber Amber List (moderate evidence)
RGR
4 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Eye Disorders
  • Retinitis Pigmentosa, Recessive
  • Retinitis pigmentosa
  • Retinitis pigmentosa 44, 613769
Tags
Amber Amber List (moderate evidence)
SEMA4A
3 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Eye Disorders
  • Cone-rod dystrophy 10, 610283
  • Retinitis pigmentosa 35, 610282
  • Retinitis Pigmentosa, Recessive
  • Retinitis pigmentosa
Tags
Amber Amber List (moderate evidence)
SLC37A3
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa
  • No OMIM entry
Tags
Red Red List (low evidence)
ACBD5
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
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
Tags
Red Red List (low evidence)
ADGRA3
3 reviews
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Red Red List (low evidence)
AIRE
1 review
1 green
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
AMN
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Tags
Red Red List (low evidence)
ARL13B
2 reviews
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
ARMS2
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Macular Degeneration
Tags
Red Red List (low evidence)
ATP13A2
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
B3GLCT
3 reviews
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
BBIP1
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Genetic Retinal Degeneration Conditions
Tags
Red Red List (low evidence)
BCOR
1 review
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
BMP4
1 review
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
C2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Macular Degeneration
Tags
Red Red List (low evidence)
C3
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Macular Degeneration
Tags
Red Red List (low evidence)
C5orf42
2 reviews
1 green
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
  • new-gene-name
Red Red List (low evidence)
CCZ1B
2 reviews
2 red
Not set
Sources
  • Literature
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa
Tags
Red Red List (low evidence)
CEP41
1 review
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
CFB
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Macular Degeneration
Tags
Red Red List (low evidence)
CLN5
1 review
1 green
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
CLN6
1 review
1 green
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
CLN8
1 review
1 green
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
COL11A1
2 reviews
1 green 1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
COL11A2
2 reviews
1 green
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
COL18A1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE consortium (NIHRBR-RD)
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Knobloch Syndrome Type I
Tags
Red Red List (low evidence)
COL2A1
3 reviews
2 green 1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
COL9A1
2 reviews
1 green 1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
COL9A2
2 reviews
1 green 1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
CROCC
2 reviews
2 red
Not set
Sources
  • Literature
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa
Tags
Red Red List (low evidence)
CTSD
1 review
1 green
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
CUBN
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Megaloblastic anemia-1, Finnish type
Tags
Red Red List (low evidence)
CYP1B1
1 review
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
CYP27A1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
DTHD1
3 reviews
2 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • No OMIM disease ID
Tags
Red Red List (low evidence)
EMC1
3 reviews
2 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • No OMIM disease ID
Tags
Red Red List (low evidence)
FAM57B
2 reviews
2 red
Not set
Sources
  • Literature
  • NHS GMS
Phenotypes
  • Cone-rod dystrophy
Tags
  • new-gene-name
Red Red List (low evidence)
FAM71A
2 reviews
2 red
Not set
Sources
  • Literature
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa
Tags
Red Red List (low evidence)
FBLN5
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Macular Degeneration
Tags
Red Red List (low evidence)
FOXC1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
FOXE3
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
FOXI2
2 reviews
2 red
Not set
Sources
  • Literature
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa
Tags
Red Red List (low evidence)
FRAS1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
FREM1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
FREM2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
FSCN2
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Macular Dystrophy/Degeneration/Stargardt Disease
  • Eye Disorders
  • Retinitis pigmentosa
  • Retinitis pigmentosa 30, 607921
Tags
Red Red List (low evidence)
FUT5
2 reviews
2 red
Not set
Sources
  • Literature
  • NHS GMS
Phenotypes
  • Retinal dystrophy
Tags
Red Red List (low evidence)
GDF6
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Klippel-Feil syndrome 1, autosomal dominant, 118100
  • Leber congenital amaurosis 17
  • Microphthalmia with coloboma 6, digenic
  • Microphthalmia, isolated 4
Tags
Red Red List (low evidence)
GNPTAB
1 review
1 green
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
GP1BA
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Bernard-Soulier syndrome, type A1 (recessive), 231200
Tags
Red Red List (low evidence)
GRIP1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
GRN
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
HCCS
1 review
1 green
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
HMCN1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Macular Degeneration
Tags
Red Red List (low evidence)
HTRA1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Macular Degeneration
Tags
Red Red List (low evidence)
IKBKG
1 review
1 green
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
INVS
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
  • Nephronophthisis 2, infantile
Tags
Red Red List (low evidence)
IRX5
2 reviews
1 red
Not set
Sources
  • Literature
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa
Tags
Red Red List (low evidence)
ITIH2
2 reviews
2 red
Not set
Sources
  • Literature
  • NHS GMS
Phenotypes
  • Stargardt disease
Tags
Red Red List (low evidence)
ITM2B
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Red
  • NHS GMS
Phenotypes
  • ?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities (OMIM)
Tags
Red Red List (low evidence)
KCTD7
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
KIF7
1 review
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
KIZ
1 review
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 69
Tags
Red Red List (low evidence)
LRMDA
3 reviews
1 green 1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
MFN2
1 review
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Optic Atrophy
  • Eye Disorders
Tags
Red Red List (low evidence)
MT-ATP6
1 review
MITOCHONDRIAL
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa
Tags
Red Red List (low evidence)
MT-ND1
1 review
MITOCHONDRIAL
Sources
  • Expert Review Red
  • NHS GMS
Tags
Red Red List (low evidence)
MT-ND4
1 review
MITOCHONDRIAL
Sources
  • Expert Review Red
  • NHS GMS
Tags
Red Red List (low evidence)
MT-ND6
2 reviews
MITOCHONDRIAL
Sources
  • Expert Review Red
  • NHS GMS
Tags
  • watchlist
Red Red List (low evidence)
MT-TL1
1 review
MITOCHONDRIAL
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa
Tags
Red Red List (low evidence)
MTTP
1 review
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
MVK
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Hyper-IgD syndrome
  • Mevalonic aciduria
Tags
Red Red List (low evidence)
MYOC
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
NAALADL1
2 reviews
2 red
Not set
Sources
  • Literature
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa
Tags
Red Red List (low evidence)
NEK2
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • ?Retinitis pigmentosa 67, 615565
Tags
Red Red List (low evidence)
NR2F1
2 reviews
1 green 1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Bosch-Boonstra-Schaaf optic atrophy syndrome, 615722
Tags
Red Red List (low evidence)
NUMB
2 reviews
2 red
Not set
Sources
  • Literature
  • NHS GMS
Phenotypes
  • Cone-rod dystrophy
Tags
Red Red List (low evidence)
OCA2
3 reviews
2 green 1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
OPA1
3 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
OPA3
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Autosomal Dominant Optic Atrophy
  • Eye Disorders
Tags
Red Red List (low evidence)
OR2M7
2 reviews
2 red
Not set
Sources
  • Literature
  • NHS GMS
Phenotypes
  • Other (any phenotype with frequency of fewer than eight individuals)
Tags
Red Red List (low evidence)
P3H2
1 review
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Myopia, high, with cataract and vitreoretinal degeneration, 614292 -3
Tags
Red Red List (low evidence)
PAX6
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Foveal Hypoplasia and Presenile Cataract Syndrome
  • Developmental macular and foveal dystrophy (foveal hypoplasia in the context of aniridia)
Tags
Red Red List (low evidence)
PDAP1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Retinitis Pigmentosa
Tags
Red Red List (low evidence)
PDZD7
1 review
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
PITPNM3
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Eye Disorders
  • Cone-Rod Dystrophy, Dominant
  • Cone-rod dystrophy 5, 600977
Tags
Red Red List (low evidence)
PITX2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
PITX3
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
PLD4
2 reviews
2 red
Not set
Sources
  • Literature
  • NHS GMS
Phenotypes
  • Usher syndrome
Tags
Red Red List (low evidence)
PODNL1
2 reviews
2 red
Not set
Sources
  • Literature
  • NHS GMS
Phenotypes
  • Retinal dystrophy
Tags
Red Red List (low evidence)
POMZP3
2 reviews
2 red
Not set
Sources
  • Literature
  • NHS GMS
Phenotypes
  • Cone dystrophy
Tags
Red Red List (low evidence)
PPT1
1 review
1 green
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
PRTFDC1
2 reviews
2 red
Not set
Sources
  • Literature
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa
Tags
Red Red List (low evidence)
RB1
1 review
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Retinoblastoma
Tags
Red Red List (low evidence)
RGS9BP
1 review
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Eye Disorders
Tags
Red Red List (low evidence)
RIMS1
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Eye Disorders
  • Cone-Rod Dystrophy, Dominant
  • Cone-rod dystrophy 7, 603649
Tags
Red Red List (low evidence)
ROM1
3 reviews
1 red
Other - please specifiy in evaluation comments
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 7, digenic
  • Eye Disorders
  • Retinitis Pigmentosa, Dominant
  • Retinitis pigmentosa
  • Retinitis pigmentosa 7, digenic, 608133
Tags
Red Red List (low evidence)
SLC24A5
2 reviews
1 green 1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
SLC45A2
2 reviews
1 green 1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
SLC7A14
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 68, 615725 (3)
Tags
Red Red List (low evidence)
SMOC1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
SOX2
1 review
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
  • Retinitis pigmentosa 33, 610359
Tags
Red Red List (low evidence)
SPG7
1 review
Not set
Sources
  • Expert Review Red
  • NHS GMS
Tags
Red Red List (low evidence)
STRA6
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
TCTN1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
TCTN2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
TCTN3
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
TEAD1
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
Tags
Red Red List (low evidence)
TEX28
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Red Red List (low evidence)
TIMM8A
1 review
1 green
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
TMEM126A
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Optic Atrophy, Recessive
  • Eye Disorders
Tags
Red Red List (low evidence)
TMEM216
1 review
1 green
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
TMEM67
1 review
1 green
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
TPP1
1 review
1 green
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
TTC21B
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
TYR
2 reviews
1 green 1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
TYRP1
2 reviews
1 green 1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
UBAP1L
2 reviews
2 red
Not set
Sources
  • Literature
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa
Tags
Red Red List (low evidence)
UNC119
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Eye Disorders
  • Cone-Rod Dystrophy, Dominant
  • CD4 lymphopenia, idiopathic (Gorska (2012) Blood 119, 1399)
Tags
Red Red List (low evidence)
VAX1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
VSX2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
WASF3
2 reviews
2 red
Not set
Sources
  • Literature
  • NHS GMS
Phenotypes
  • Cone-rod dystrophy
Tags
Red Red List (low evidence)
WFS1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
WT1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
ZNF513
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
  • Retinitis Pigmentosa, Dominant
  • Retinitis pigmentosa
  • Retinitis pigmentosa 58, 613617
Tags
No list No list
EVR3
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Removed
Phenotypes
  • Exudative vitreoretinopathy 3
Tags
  • locus-type-phenotype-only

Major version comments

Downloads

Download lists

Download Version