Description
This panel is used for clinical indication 'R36 Structural eye disease' in the NHS Genomic Medicine Service.

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 'R36 Structural eye disease'.

The content of this panel is overseen by NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects of the assay(s) available.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

This gene list was originally created using genes and their overall ratings from the following gene panels:
- Ocular coloboma (v1.19, code 294) 

- Anophthalmia or microphthalmia (v1.15, code 34) 

- Glaucoma (developmental) (v1.4, code 249) 
- 
Aniridia (v0.12, code 510)

6 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Anna de Burca (Genomics England Curator)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Mariya Moosajee (Moorfields Eye Hospital)

    Group: Other NHS organisation
    Workplace: NHS clinical service

  • Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

    Group: GeCIP domain
    Workplace: NHS clinical service

457 Entities

456 reviewed, 104 green

List Entity Reviews Mode of inheritance Details
457 Entitiess
Green Green List (high evidence)
ABCB6
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Microphthalmia, isolated, with coloboma 7, 614497
  • [Blood group, Langereis system], 111600
  • Dyschromatosis universalis hereditaria 3, 615402
Tags
Green Green List (high evidence)
ACTB
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Baraitser-Winter syndrome 1, 243310
Tags
Green Green List (high evidence)
ACTG1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Baraitser-Winter syndrome 2, 614583
Tags
Green Green List (high evidence)
ADAMTS10
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Weill-Marchesani syndrome 1, recessive
Tags
Green Green List (high evidence)
ADAMTS17
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Weill-Marchesani-like syndrome- lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature, but no brachydactyly (AR)
Tags
Green Green List (high evidence)
ADAMTS18
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458
Tags
Green Green List (high evidence)
ADAMTSL4
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ectopia lentis et pupillae, 225200
  • Ectopia lentis, isolated, autosomal recessive, 225100
Tags
Green Green List (high evidence)
ALDH1A3
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Microphthalmia, isolated 8 615113
Tags
Green Green List (high evidence)
ATOH7
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • AR Persistent hyperplasia of primary vitreous - optic nerve dysplasia, retinal detachment
  • Persistent hyperplastic primary vitreous, autosomal recessive (can include microphthalmia), 221900
Tags
Green Green List (high evidence)
B3GLCT
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Peters-plus syndrome 261540
  • Eye Disorders
Tags
Green Green List (high evidence)
BCOR
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
  • NHS GMS
Phenotypes
  • Microphthalmia, syndromic 2, 300166
Tags
Green Green List (high evidence)
BEST1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa, concentric, 613194
  • Vitelliform Macular degeneration 2, 153700
  • Microcornea, rod-cone dystrophy, cataract, and posterior
  • Eye Disorders
  • Bestrophinopathy, autosomal recessive, 611809
  • staphyloma
  • 193220
Tags
Green Green List (high evidence)
BMP4
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Orofacial cleft 11, 600625
  • Microphthalmia, syndromic 6, 607932
  • BMP4-Related Syndromic Microphthalmia
Tags
Green Green List (high evidence)
C12orf57
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Temtamy syndrome, 218340
Tags
Green Green List (high evidence)
CBS
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Homocystinuria, B6-responsive and nonresponsive types (includes ectopia lentis), 236200
Tags
Green Green List (high evidence)
CC2D2A
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • COACH syndrome, 216360
Tags
Green Green List (high evidence)
CEP290
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Senior-Loken syndrome 6, 610189
  • Leber congenital amaurosis 10, 611755
  • Joubert syndrome 5, 610188
  • Meckel syndrome 4, 611134
  • ?Bardet-Biedl syndrome 14, 615991
Tags
Green Green List (high evidence)
CHD7
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • CHARGE syndrome, 214800
Tags
Green Green List (high evidence)
CHRDL1
2 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Megalocornea 1, X-linked, 309300
Tags
Green Green List (high evidence)
CLDN19
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hypomagnesemia 5, renal, with ocular involvement, 248190
Tags
Green Green List (high evidence)
COL18A1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Knobloch syndrome, type 1, 267750
Tags
Green Green List (high evidence)
COL4A1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES 175780
Tags
Green Green List (high evidence)
CPAMD8
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Anterior segment dysgenesis 8, 617319
Tags
Green Green List (high evidence)
CRYAA
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cataract 9, multiple types (some patients also have microphthalmia and/or microcornea), 604219
Tags
Green Green List (high evidence)
CRYGC
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cataract 2, multiple types (often with microcornea), 604307
Tags
Green Green List (high evidence)
CYP1B1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Primary Congenital Glaucoma
  • Peters anomaly, 604229
  • Glaucoma 3, Primary Congenital, A
  • Glaucoma 3, Primary Congenital, A, GLC3A, 231300
  • Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset
  • GLC3A
  • primary congenital glaucoma
  • 231300
Tags
Green Green List (high evidence)
DDX58
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Atypical Singleton-Merton syndrome (AD) - glaucoma and skeletal abnormalities.
Tags
Green Green List (high evidence)
FAT1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Tags
Green Green List (high evidence)
FBN1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Marfan syndrome, 154700
  • Weill-Marchesani syndrome 2, dominant, 608328
  • MASS syndrome, 604308
  • Marfan lipodystrophy syndrome, 616914
  • Ectopia lentis, familial, 129600
Tags
Green Green List (high evidence)
FKRP
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 606612
Tags
Green Green List (high evidence)
FOXC1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Axenfeld-Rieger syndrome, type 3 602482
  • Anterior segment dysgenesis 3, multiple subtypes 601631
Tags
Green Green List (high evidence)
FOXD3
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Anterior segment dysgenesis
  • Peters anomaly
  • aniridia
Tags
Green Green List (high evidence)
FOXE3
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Anterior segment mesenchymal dysgenesis 107250
  • Anterior segment dysgenesis 2, multiple subtypes 610256
Tags
Green Green List (high evidence)
FRAS1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • FRASER SYNDROME 1 219000
Tags
Green Green List (high evidence)
FREM1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • MANITOBA OCULOTRICHOANAL SYNDROME 248450
Tags
Green Green List (high evidence)
FREM2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • FRASER SYNDROME 2 617666
  • Eye Disorders
Tags
Green Green List (high evidence)
GDF6
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Microphthalmia, isolated 4, 613094
  • KLIPPEL-FEIL SYNDROME 1(includes microphthalmia), 118100
  • Microphthalmia with coloboma 6, digenic (with GDF3), 613703
  • Klippel-Feil syndrome 1, autosomal dominant, 118100
Tags
Green Green List (high evidence)
GJA1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • open angle glaucoma (OAG) and microcornea
  • Oculodentodigital dysplasia
Tags
Green Green List (high evidence)
GJA8
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cataract 1, multiple types, 116200
Tags
Green Green List (high evidence)
GRIP1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • FRASER SYNDROME 3 617667
  • Eye Disorders
Tags
Green Green List (high evidence)
HCCS
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
  • NHS GMS
Phenotypes
  • Microphthalmia, syndromic 7, 309801
  • Linear skin defects with multiple congenital anomalies 1, 309801
Tags
Green Green List (high evidence)
HMX1
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Oculoauricular syndrome 612109
Tags
Green Green List (high evidence)
INPP5E
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Joubert syndrome
  • Joubert syndrome 1, 213300
  • Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156
Tags
Green Green List (high evidence)
22q11.21 recurrent (Cat eye syndrome) region (includes CECR2) Gain
ISCA-37393-Gain
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • 115470
  • PMID 22890013: variable phenotype including developmental delay, ocular coloboma, preauricular tags/pits, cleft palate, skeletal defects, heart defects, urogenital defect, anal defect, hearing loss, clinodactyly of fifth fingers, umbilical hernia, accessory spleen, strabismus, shortening of the fifth finger. PMID 22495764: Inter and intra individual variability of phenotype, mosaic. PMID 11693792: preauricular skin tags and pits, downslanting palpebral fissures, hypertelorism, ectopic anus, hypospadias, and hypoplastic left heart syndrome
Tags
Green Green List (high evidence)
15q24 recurrent region (A-D) (includes SIN3A) Loss
ISCA-37396-Loss
Region
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Chromosome 15q24 deletion syndrome, 613406
  • PMID: 22180641 intellectual disability, growth retardation, unusual facial morphology
  • developmental delay, severe speech problems
  • PMID:19557438 Developmental delay, short stature, hypotonia, digital abnormalities, joint laxity, genital abnormalities, characteristic facial features
  • PMID:614294 Developmental delay, loose connective tissue, digital and genital anomalies, distinct facial gestalt, congenital diaphragmatic hernia
Tags
Green Green List (high evidence)
ISPD
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643
Tags
  • new-gene-name
Green Green List (high evidence)
KIAA1109
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Alkuraya-Kucinskas syndrome
Tags
Green Green List (high evidence)
KMT2D
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Kabuki syndrome 1 (can include coloboma), 147920
Tags
Green Green List (high evidence)
LAMB2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199
  • Pierson syndrome, 609049
Tags
Green Green List (high evidence)
LRP2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Donnai-Barrow syndrome, 222448
Tags
Green Green List (high evidence)
LRP5
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Osteopetrosis, autosomal dominant 1, 607634
  • Osteoporosis-pseudoglioma syndrome, 259770
  • van Buchem disease, type 2
  • Exudative vitreoretinopathy 4, 601813
  • Eye Disorders
Tags
Green Green List (high evidence)
LTBP2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Glaucoma 3, primary congenital, D 613086
  • Primary Congenital Glaucoma
Tags
Green Green List (high evidence)
MAB21L2
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Microphthalmia, syndromic 14, 615877
Tags
Green Green List (high evidence)
MAF
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cataract 21, multiple types 610202
Tags
Green Green List (high evidence)
MFRP
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Isolated Microphthalmia
  • Microphthalmia, isolated 5, 611040
Tags
Green Green List (high evidence)
MITF
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • COMMAD syndrome, 617306
  • Waardenburg syndrome, type 2a, WS2A, 193510
Tags
Green Green List (high evidence)
MYOC
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Glaucoma 1A, primary open angle, 137750
Tags
Green Green List (high evidence)
NDP
2 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Norrie disease, 310600
  • Exudative vitreoretinopathy 2, X-linked, 305390
  • Eye Disorders
Tags
Green Green List (high evidence)
NHS
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
  • NHS GMS
Phenotypes
  • Nance-Horan syndrome, 302350
  • Cataract 40, X-linked, 302200
Tags
Green Green List (high evidence)
OTX2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • severe, bilateral cases
  • OTX2-Related Syndromic Microphthalmia
  • Microphthalmia, syndromic 5, 610125
Tags
Green Green List (high evidence)
PAX2
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Papillorenal syndrome 120330
Tags
Green Green List (high evidence)
PAX6
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Coloboma of optic nerve, 120430
  • Peters anomaly, 604229
  • Coloboma, ocular, 120200
  • Optic nerve hypoplasia, 165550
  • Aniridia 106210
  • Foveal hypoplasia 1, 136520
  • ?Morning glory disc anomaly, 120430
  • Keratitis, 148190
  • Anophthalmia
  • Cataract with late-onset corneal dystrohpy, 106210
  • Gillespie syndrome, 206700
Tags
Green Green List (high evidence)
PIGL
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • CHIME syndrome, 280000
  • Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,Mental Retardation, and Ear Anomalies Syndrome
Tags
Green Green List (high evidence)
PITX2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Axenfeld-Rieger syndrome, type 1 180500
  • Anterior segment dysgenesis 4 137600
Tags
Green Green List (high evidence)
PITX3
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Anterior segment mesenchymal dysgenesis, 107250
  • Cataract 11, multiple types, 610623
  • Eye Disorders
Tags
Green Green List (high evidence)
POMT1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670
Tags
Green Green List (high evidence)
PORCN
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
  • NHS GMS
Phenotypes
  • Focal dermal hypoplasia 305600
Tags
Green Green List (high evidence)
PRR12
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Tags
Green Green List (high evidence)
PRSS56
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Microphthalmia, isolated 6, 613517
Tags
Green Green List (high evidence)
PTCH1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Holoprosencephaly 7 (can include microphthalmia), 610828
  • Corneal opacification and other ocular anomalies, 269400
Tags
Green Green List (high evidence)
PUF60
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Verheij syndrome, 615583
  • PUF60 syndrome
  • Chromosome 8q24.3 deletion syndrome
  • VRJS
  • ocular abnormalities
Tags
Green Green List (high evidence)
PXDN
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Corneal opacification and other ocular anomalies, 269400
Tags
Green Green List (high evidence)
RAB18
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Warburg Micro Syndrome
  • Warburg micro syndrome 3, 614222
Tags
Green Green List (high evidence)
RAB3GAP1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Warburg micro syndrome 1, 600118
  • Warburg Micro Syndrome
Tags
Green Green List (high evidence)
RAB3GAP2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Martsolf syndrome, 212720
  • Warburg micro syndrome 2, 614225
  • Martsolf syndrome, 212720Warburg micro syndrome 2, 614225
  • Warburg Micro Syndrome
Tags
Green Green List (high evidence)
RARB
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Microphthalmia, syndromic 12, 615524
Tags
Green Green List (high evidence)
RAX
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Anophthalmia/Microphthalmia
Tags
Green Green List (high evidence)
RBP4
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, 615147
Tags
Green Green List (high evidence)
RPGRIP1L
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • COACH syndrome, 216360
Tags
Green Green List (high evidence)
SALL1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Townes-Brocks branchiootorenal-like syndrome, 107480
Tags
Green Green List (high evidence)
SALL4
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Duane-radial ray syndrome, 607323
Tags
Green Green List (high evidence)
SBF2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Charcot-Marie-Tooth disease, type 4B2 604563
  • CMT with early onset glaucoma
Tags
Green Green List (high evidence)
SH3PXD2B
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Frank-ter Haar syndrome, 249420
Tags
Green Green List (high evidence)
SHH
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Holoprosencephaly-3, 142945
  • Schizencephaly, 269160
  • Single median maxillary central incisor, 147250
  • Microphthalmia with coloboma 5, 611638
Tags
Green Green List (high evidence)
SIX6
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Microphthalmia with cataract 2, 212550
  • Anophthalmia/Microphthalmia
  • Optic disc anomalies with retinal and/or macular dystrophy, 212550
Tags
Green Green List (high evidence)
SLC38A8
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218
Tags
Green Green List (high evidence)
SLC4A4
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Renal tubular acidosis, proximal, with ocular abnormalities, 604278
Tags
Green Green List (high evidence)
SMCHD1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • ARHINIA, CHOANAL ATRESIA, AND MICROPHTHALMIA, 603457
Tags
Green Green List (high evidence)
SMO
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Curry-Jones syndrome, somatic mosaic 601707
Tags
Green Green List (high evidence)
SMOC1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Microphthalmia with limb anomalies, 206920
Tags
Green Green List (high evidence)
SOX2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Microphthalmia, syndromic 3 206900
Tags
Green Green List (high evidence)
SRD5A3
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Kahrizi Syndrome (mental retardation, cataract, coloboma, kyphosis), 612713
Tags
Green Green List (high evidence)
STRA6
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Microphthalmia, syndromic 9, 601186
  • Microphthalmia, isolated, with coloboma 8, 601186
  • Syndromic Microphthalmia, Recessive
Tags
Green Green List (high evidence)
TBC1D20
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Warburg micro syndrome 4, 615663
Tags
Green Green List (high evidence)
TENM3
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Microphthalmia, isolated, with coloboma 9, 615145
Tags
Green Green List (high evidence)
TFAP2A
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Branchiooculofacial syndrome , 113620
  • Branchiooculofacial syndrome (includes ocular anomalies such as microphthalmia and lacrimal duct obstruction), 113620
Tags
Green Green List (high evidence)
TMEM216
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Joubert syndrome
  • Joubert syndrome 2, 608091
  • Meckel syndrome 2, 603194
  • Meckel-Gruber syndrome
Tags
Green Green List (high evidence)
TMEM237
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Joubert syndrome
  • Joubert syndrome 14, 614424
Tags
Green Green List (high evidence)
TMEM67
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • COACH syndrome, 216360
  • Joubert syndrome 6, 610688
  • {Bardet-Biedl syndrome 14, modifer of}, 615991
  • Meckel syndrome 3, 607361
  • COACH syndrome, 216360
  • Nephronophthisis 11, 613550
Tags
Green Green List (high evidence)
TMEM98
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • NNO4 Nanophthalmos 4, 615972
Tags
Green Green List (high evidence)
TUBGCP4
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335
Tags
Green Green List (high evidence)
VSX2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Microphthalmia with coloboma 3, 610092
Tags
Green Green List (high evidence)
YAP1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Coloboma, ocular, 120433
  • Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mentalretardation, 120433
  • isolated ocular coloboma
Tags
Green Green List (high evidence)
ZEB2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mowat-Wilson syndrome (Hirschsprung disease with bilateral iris and retinal coloboma and high myopia), 235730
Tags
Amber Amber List (moderate evidence)
AIPL1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Cone-rod dystrophy
  • Leber congenital amaurosis 4, 604393
  • Retinitis pigmentosa, juvenile
  • Eye Disorders
Tags
Amber Amber List (moderate evidence)
BMP7
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Microphthalmia, anophthalmia, systemic abnormalities, intellectual disability
  • None
Tags
Amber Amber List (moderate evidence)
BMPR1A
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
CNNM4
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Jalili syndrome, 217080
  • Eye Disorders
Tags
Amber Amber List (moderate evidence)
COL2A1
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Epiphyseal dysplasia, multiple, with myopia and deafness
  • Eye Disorders
  • SED congenita
  • Kniest dysplasia, 156550
  • Stickler syndrome, type I, 108300
  • Stickler sydrome, type I, nonsyndromic ocular, 609508
  • Vitreoretinopathy with phalangeal epiphyseal dysplasia
Tags
Amber Amber List (moderate evidence)
CRB1
2 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa-12, autosomal recessive, 600105
  • Pigmented paravenous chorioretinal atrophy
  • Leber congenital amaurosis 8, 613835
  • Eye Disorders
Tags
Amber Amber List (moderate evidence)
CRIM1
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Macrophthalmia, Colobomatous, with microcornea, 602499
Tags
Amber Amber List (moderate evidence)
CRYBA4
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Cataract 23 (and microphthalmia in 1 case), 610425
Tags
Amber Amber List (moderate evidence)
CRYBB1
2 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Cataract 17, multiple types, 611544
Tags
Amber Amber List (moderate evidence)
CRYBB2
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Cataract 3, multiple types, 601547
Tags
Amber Amber List (moderate evidence)
CRYGD
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Cataract 4, Multiple Types, 115700
Tags
Amber Amber List (moderate evidence)
EFTUD2
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Mandibulofacial dysostosis, Guion-Almeida type, 610536
Tags
Amber Amber List (moderate evidence)
ERCC1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Cerebrooculofacioskeletal syndrome 4 (includes microphthalmia), 610758
  • Cerebrooculofacioskeletal syndrome 4, 610758
Tags
Amber Amber List (moderate evidence)
FZD4
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Exudative vitreoretinopathy 1, 133780
  • Eye Disorders
Tags
Amber Amber List (moderate evidence)
FZD5
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Coloboma, None
Tags
Amber Amber List (moderate evidence)
GDF3
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Klippel-Feil Syndrome3, 613702
  • Klippel-Feil syndrome 3, autosomal dominant, 613702
  • Microphthalmia with coloboma 6, 613703
  • Microphthalmia, isolated 7, 613704
Tags
Amber Amber List (moderate evidence)
GLI2
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Holoprosencephaly 9, 610829
Tags
Amber Amber List (moderate evidence)
HMGB3
2 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • ?Microphthalmia, syndromic 13, 300915
Tags
Amber Amber List (moderate evidence)
IGBP1
2 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Corpus callosum, agenesis of, with mental retardation, ocular coloboma andmicrognathia, 300472
Tags
Amber Amber List (moderate evidence)
IPO13
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
KERA
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Cornea plana congenita, recessive, 217300
Tags
Amber Amber List (moderate evidence)
KIAA0586
1 review
Not set
Sources
  • Expert list
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
MIR204
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Retinal dystrophy and iris coloboma with or without cataract 616722
Tags
Amber Amber List (moderate evidence)
OCRL
2 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Lowe syndrome, 309000
Tags
Amber Amber List (moderate evidence)
OFD1
2 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • ?Retinitis pigmentosa 23, 300424
  • Joubert syndrome 10, 300804
  • X-linked Joubert syndrome
  • Oral-facial-digital syndrome I
Tags
Amber Amber List (moderate evidence)
OLFM2
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Bilateral microphthalmia, short stature and facial dysmorphism
  • No OMIM
Tags
Amber Amber List (moderate evidence)
PDE6D
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • ?Joubert syndrome 22 (microphthalmia/optic nerve coloboma, intrauterine growth retardation, facial dysmorphism, postaxial polydactyly of feet, syndactyly, polydactyly, renal hypoplasia, extinguished electroretinogram), 615665
Tags
Amber Amber List (moderate evidence)
POMT2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150
Tags
Amber Amber List (moderate evidence)
PQBP1
2 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Renpenning syndrome (can include microphthalmia/coloboma), 309500
Tags
Amber Amber List (moderate evidence)
SALL2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Coloboma, ocular, autosomal recessive, 216820
Tags
Amber Amber List (moderate evidence)
SCLT1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Orofaciodigital syndrome IX (a severe ciliopathy phenotype featuring midline cleft, microcephaly, and colobomatous microphthalmia/anophthalmia, one case only (Adly et al 2014), variant was classified as unknown significance by OMIM)
  • None
Tags
Amber Amber List (moderate evidence)
SIX3
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Holoprosencephaly 2 157170
Tags
Amber Amber List (moderate evidence)
SLC16A12
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Cataract, juvenile, with microcornea and glucosuria, 612018
Tags
Amber Amber List (moderate evidence)
SLC2A1
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, 608885
Tags
Amber Amber List (moderate evidence)
SMAD4
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Myhre syndrome, 139210
Tags
Amber Amber List (moderate evidence)
TBC1D32
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Orofaciodigital syndrome 9, 258865
Tags
Amber Amber List (moderate evidence)
TCOF1
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Treacher Collins syndrome 1 (eyelid coloboma), 154500
Tags
Amber Amber List (moderate evidence)
TMX3
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Microphthalmia, coloboma, micrognathia, diaphragmatic hernia
  • None
Tags
Amber Amber List (moderate evidence)
VAX1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Microphthalmia, syndromic 11, 614402
Tags
Amber Amber List (moderate evidence)
VSX1
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Keratoconus 1, 148300
  • Corneal dystrophy, posterior polymorphous, 1, 122000
  • Craniofacial anomalies and anterior segment dysgenesis syndrome, 614195
Tags
Amber Amber List (moderate evidence)
ZIC2
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Holoprosencephaly 5, 609637
Tags
Red Red List (low evidence)
ABCA4
2 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Cone-rod dystrophy 3, 604116
  • Retinal dystrophy, early-onset severe
  • Eye Disorders
  • Fundus flavimaculatus
  • {Macular degeneration, age-related, 2}, 153800
  • Retinitis pigmentosa 19, 601718
  • Stargardt disease 1, 248200
Tags
Red Red List (low evidence)
ABHD12
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 612674
  • Eye Disorders
Tags
Red Red List (low evidence)
ADAM9
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Cone-rod dystrophy 9, 612775
  • Eye Disorders
Tags
Red Red List (low evidence)
ADGRV1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Usher syndrome, type 2C, 605472
  • Eye Disorders
Tags
Red Red List (low evidence)
AGBL1
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • Corneal dystrophy, Fuchs endothelial, 8, 615523
Tags
Red Red List (low evidence)
AGK
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Cataract 38, autosomal recessive, 614691
  • Sengers syndrome, 212350
Tags
Red Red List (low evidence)
AGPS
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Rhizomelic chondrodysplasia punctata, type 3, 600121
Tags
Red Red List (low evidence)
AHI1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Joubert syndrome 3, 608629
Tags
Red Red List (low evidence)
ALDH18A1
2 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Cutis laxa, autosomal recessive, type IIIA, 219150
Tags
Red Red List (low evidence)
ALMS1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Alstrom syndrome 203800
  • Eye Disorders
Tags
Red Red List (low evidence)
ALX1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
Phenotypes
  • Frontonasal Dysplasia 3, FND3, 613456
Tags
Red Red List (low evidence)
ALX3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
Phenotypes
  • Frontonasal Dysplasia 1, FND1, 136760
Tags
Red Red List (low evidence)
ARL13B
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Joubert syndrome 8 612291
Tags
Red Red List (low evidence)
ARL6
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Bardet-Biedl syndrome 3, 600151
  • {Bardet-Biedl syndrome 1, modifier of} 209900
  • Retinitis pigmentosa 55, 613575
  • Eye Disorders
Tags
Red Red List (low evidence)
ASB10
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Glaucoma 1, open angle, F, 603383
Tags
Red Red List (low evidence)
ATP13A2
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • KUFOR-RAKEB SYNDROME, 606693
  • SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE, 617225
  • Eye Disorders
Tags
Red Red List (low evidence)
B3GALNT2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
Phenotypes
  • Muscular Dystrophy-Dystroglycanopathy, Type A, 11, 615181
Tags
Red Red List (low evidence)
BBS1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Bardet-Biedl syndrome1, 209900
  • Eye Disorders
Tags
Red Red List (low evidence)
BBS10
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Bardet-Biedl syndrome10, 615987
  • Eye Disorders
Tags
Red Red List (low evidence)
BBS12
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Bardet-Biedl syndrome12, 615989
  • Eye Disorders
Tags
Red Red List (low evidence)
BBS2
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 74, 616562
  • Bardet-Biedl syndrome2, 615981
  • Eye Disorders
Tags
Red Red List (low evidence)
BBS4
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Bardet-Biedl syndrome4, 615982
  • Eye Disorders
Tags
Red Red List (low evidence)
BBS5
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Bardet-Biedl syndrome5, 615983
  • Eye Disorders
Tags
Red Red List (low evidence)
BBS7
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Bardet-Biedl syndrome7, 615984
  • Eye Disorders
Tags
Red Red List (low evidence)
BBS9
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Bardet-Biedl syndrome9, 615986
  • Eye Disorders
Tags
Red Red List (low evidence)
BFSP1
2 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Cataract 33, 611391
Tags
Red Red List (low evidence)
BFSP2
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • Cataract 12, multiple types, 611597
Tags
Red Red List (low evidence)
C1QTNF5
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Retinal degeneration, late-onset, autosomal dominant, 605670
  • Eye Disorders
Tags
Red Red List (low evidence)
C2orf71
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 54, 613428
  • Eye Disorders
Tags
  • new-gene-name
Red Red List (low evidence)
C5orf42
4 reviews
1 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Joubert syndrome
  • Oral-facial-digital syndrome type VI
  • Oriofaciodigital Syndrome VI, OFD6, 277170
  • Joubert syndrome 17, 614615
Tags
  • new-gene-name
Red Red List (low evidence)
C8orf37
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Cone-rod dystrophy 16, 614500
  • Eye Disorders
Tags
Red Red List (low evidence)
CA4
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 17, 600852
  • Eye Disorders
Tags
Red Red List (low evidence)
CABP4
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Night blindness, congenital stationary (incomplete), 2B, autosomal recessive, 610427
  • Eye Disorders
Tags
Red Red List (low evidence)
CACNA1F
2 reviews
2 red
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Cone-rod dystropy, X-linked, 3, 300476
  • Aland Island eye disease, 300600
  • Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071
  • Eye Disorders
Tags
Red Red List (low evidence)
CACNA2D4
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Retinal cone dystrophy 4, 610478
  • Eye Disorders
Tags
Red Red List (low evidence)
CDH23
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Usher syndrome, type 1D, 601067
  • Eye Disorders
Tags
Red Red List (low evidence)
CDH3
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280
  • Hypotrichosis, congenital, with juvenile macular dystrophy, 601553
  • Eye Disorders
Tags
Red Red List (low evidence)
CDHR1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Cone-rod dystrophy 15, 613660
  • Eye Disorders
Tags
Red Red List (low evidence)
CEP41
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Joubert syndrome
  • Joubert syndrome 15, 614464
Tags
Red Red List (low evidence)
CERKL
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 26, 608380
  • Eye Disorders
Tags
Red Red List (low evidence)
CHM
2 reviews
2 red
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Choroideremia, 303100
  • Eye Disorders
Tags
Red Red List (low evidence)
CHMP4B
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • Cataract 31, multiple types, 605387
Tags
Red Red List (low evidence)
CHST6
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Macular corneal dystrophy, 217800
Tags
Red Red List (low evidence)
CIB2
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Usher syndrome, type IJ, 614869
  • Eye Disorders
Tags
Red Red List (low evidence)
CLN3
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 3, 204200
  • Eye Disorders
Tags
Red Red List (low evidence)
CLN5
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 5, 256731
  • Eye Disorders
Tags
Red Red List (low evidence)
CLN6
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 6, 601780
  • Eye Disorders
Tags
Red Red List (low evidence)
CLN8
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 8, 600143
  • Eye Disorders
Tags
Red Red List (low evidence)
CLRN1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Usher syndrome, type 3A, 276902
  • Retinitis pigmentosa 61, 614180
  • Eye Disorders
Tags
Red Red List (low evidence)
CNGA1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 49, 613756
  • Eye Disorders
Tags
Red Red List (low evidence)
CNGA3
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Achromatopsia-2, 216900
  • Eye Disorders
Tags
Red Red List (low evidence)
CNGB1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 45, 613767
  • Eye Disorders
Tags
Red Red List (low evidence)
CNGB3
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Achromatopsia-3, 262300
  • Macular degeneration, juvenile, 248200
  • Eye Disorders
Tags
Red Red List (low evidence)
COL11A1
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Marshall syndrome, 154780
  • Stickler syndrome, type II, 604841
  • Eye Disorders
Tags
Red Red List (low evidence)
COL11A2
2 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Eye Disorders
Tags
Red Red List (low evidence)
COL8A2
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • Corneal dystrophy, Fuchs endothelial, 1, 136800
  • Corneal dystrophy, posterior polymorphous 2, 609140
Tags
Red Red List (low evidence)
COL9A1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Stickler syndrome, type IV, 614134
  • Eye Disorders
Tags
Red Red List (low evidence)
COL9A2
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • STICKLER SYNDROME, TYPE V, 614284
  • Eye Disorders
Tags
Red Red List (low evidence)
COX7B
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • London North GLH
Phenotypes
  • Linear Skin Defects with Multiple Congenital Anomalies 2, LSDMCA2, 300887
Tags
Red Red List (low evidence)
CRX
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Leber congenital amaurosis 7, 613829
  • Cone-rod retinal dystrophy-2, 120970
  • Eye Disorders
Tags
Red Red List (low evidence)
CRYAB
2 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • CATARACT 16, MULTIPLE TYPES, 613763
Tags
Red Red List (low evidence)
CRYBA1
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • Cataract 10, multiple types, 600881
Tags
Red Red List (low evidence)
CRYBB3
2 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Cataract 22, autosomal recessive, 609741
Tags
Red Red List (low evidence)
CRYGB
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • Cataract 39, multiple types, autosomal dominant, 615188
Tags
Red Red List (low evidence)
CRYGS
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • Cataract 20, multiple types, 116100
Tags
Red Red List (low evidence)
CSPP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
Phenotypes
  • Joubert syndrome 21, 615636
Tags
Red Red List (low evidence)
CTDP1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Congenital cataracts, facial dysmorphism, and neuropathy, 604168
Tags
Red Red List (low evidence)
CTSD
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • CEROID LIPOFUSCINOSIS, NEURONAL, 10, 610127
  • Eye Disorders
Tags
Red Red List (low evidence)
CYP27A1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • CEREBROTENDINOUS XANTHOMATOSIS, 213700
  • Eye Disorders
Tags
Red Red List (low evidence)
CYP4V2
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Bietti crystalline corneoretinal dystrophy, 210370
  • Eye Disorders
Tags
Red Red List (low evidence)
CYP51A1
2 reviews
2 red
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
DAG1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818
Tags
Red Red List (low evidence)
DCN
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • Corneal dystrophy, congenital stromal, 610048
Tags
Red Red List (low evidence)
DDB1
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Tags
Red Red List (low evidence)
DDB2
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E, 278740
Tags
Red Red List (low evidence)
DHCR7
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Smith-Lemli-Opitz syndrome, 270400
Tags
Red Red List (low evidence)
DHDDS
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 59, 613861
  • Eye Disorders
Tags
Red Red List (low evidence)
DHX38
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Retinitis Pigmentosa and Macular Coloboma, 618220
Tags
Red Red List (low evidence)
DOCK6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
Phenotypes
  • Adams-Oliver Syndrome 2, AOS2, 614219
Tags
Red Red List (low evidence)
DPYD
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Dihydropyrimidine dehydrogenase deficiency , 274270
Tags
Red Red List (low evidence)
EFEMP1
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Doyne honeycomb degeneration of retina, 126600
  • Eye Disorders
Tags
Red Red List (low evidence)
ELOVL4
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Stargardt disease 3, 600110
  • Eye Disorders
Tags
Red Red List (low evidence)
ELP4
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • ANIRIDIA 2, 617141
  • ?Aniridia 2
Tags
Red Red List (low evidence)
EPG5
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Vici syndrome, 242840
Tags
Red Red List (low evidence)
EPHA2
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • Cataract 6, multiple types, 116600
Tags
Red Red List (low evidence)
ERCC2
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, 601675
  • Xeroderma pigmentosum, group D, 278730
  • Trichothiodystrophy, 601675
  • Cerebrooculofacioskeletal syndrome 2, 610756
Tags
Red Red List (low evidence)
ERCC3
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, 616390
Tags
Red Red List (low evidence)
ERCC4
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F, 278760
Tags
Red Red List (low evidence)
ERCC5
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Xeroderma Pigmentosum, group G (includes microphthalmia and/or cataract), 278780
  • Cerebrooculofacioskeletal syndrome 3, 616570
Tags
Red Red List (low evidence)
ERCC6
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Cerebrooculofacioskeletal Syndrome
  • Cerebrooculofacioskeletal syndrome 1, 214150
  • Cockayne syndrome, type B, 133540
  • De Sanctis-Cacchione syndrome, 278800
  • {Macular degeneration, age-related, susceptibility to 5}, 613761
  • UV-sensitive syndrome 1, 600630
  • {Lung cancer, susceptibility to}, 211980
Tags
Red Red List (low evidence)
ERCC8
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Cockayne syndrome, type A, 216400
Tags
Red Red List (low evidence)
ESCO2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
Phenotypes
  • SC Phocomelia Syndrome, 269000
Tags
Red Red List (low evidence)
EYA1
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • Branchiootic syndrome 1, 602588
  • Anterior segment anomalies with or without cataract, 113650
Tags
Red Red List (low evidence)
EYS
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 25, 602772
  • Eye Disorders
Tags
Red Red List (low evidence)
FADD
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • None
  • Iris coloboma, retinal coloboma
Tags
Red Red List (low evidence)
FAM111A
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • Gracile bone dysplasia
  • 127000
  • 602361
  • Kenny-Caffey syndrome, type 2
Tags
Red Red List (low evidence)
FAM126A
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • LEUKODYSTROPHY, HYPOMYELINATING, 5 (includes congenital cataract), 610532
Tags
Red Red List (low evidence)
FAM161A
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 28, 606068
  • Eye Disorders
Tags
Red Red List (low evidence)
FANCA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
Phenotypes
  • Fanconi Anemia, Complementation Group A, FA, 227650
Tags
Red Red List (low evidence)
FANCD2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
Phenotypes
  • Fanconi Anemia, Complementation Group D2, FANCD2, 227646
Tags
Red Red List (low evidence)
FANCE
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
Phenotypes
  • Fanconi Anemia, Complementation Group E, FANCE, 600901
Tags
Red Red List (low evidence)
FANCI
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
Phenotypes
  • Fanconi Anemia, Complementation Group I, FANCI, 609053
Tags
Red Red List (low evidence)
FANCL
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • London North GLH
Phenotypes
  • Fanconi Anemia, Complementation Group L, FANCL, 614083
Tags
Red Red List (low evidence)
FKTN
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
Phenotypes
  • Muscular Dystrophy-Dystroglycanopathy, Type A, 4, MDDGA4, 253800
Tags
Red Red List (low evidence)
FLVCR1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Ataxia, posterior column, with retinitis pigmentosa, 609033
  • Eye Disorders
Tags
Red Red List (low evidence)
FNBP4
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Microphthalmia with Limb anomalies (Classified as variant of unknown significance on OMIM), 206920
Tags
Red Red List (low evidence)
FOXL2
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • Blepharophimosis, epicanthus inversus, and ptosis, 110100
Tags
Red Red List (low evidence)
FSCN2
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 30, 607921
  • Eye Disorders
Tags
Red Red List (low evidence)
FTL
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • Hyperferritinemia-cataract syndrome, 600886
Tags
Red Red List (low evidence)
FYCO1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Cataract 18, autosomal recessive, 610019
Tags
Red Red List (low evidence)
GALK1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Galactokinase deficiency with cataracts, 230200
Tags
Red Red List (low evidence)
GALT
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Galactosemia, 230400
Tags
Red Red List (low evidence)
GCNT2
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • Cataract 13 with adult i phenotype, 116700
Tags
Red Red List (low evidence)
GFER
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076
Tags
Red Red List (low evidence)
GJA3
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • Cataract 14, multiple types, 601885
Tags
Red Red List (low evidence)
GNAT1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • ?Night blindness, congenital stationary, type 1G, 616389
  • Night blindness, congenital stationary, autosomal dominant 3, 610444
  • Eye Disorders
Tags
Red Red List (low evidence)
GNAT2
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Achromatopsia-4,613856
  • Eye Disorders
Tags
Red Red List (low evidence)
GNPTG
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Mucolipidosis III gamma, Retinitis Pigmentosa and skeletal abnormalities, 252605
Tags
Red Red List (low evidence)
GPR143
2 reviews
2 red
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Nystagmus 6, congenital, X-linked, 300814
  • Ocular albinism, type I, Nettleship-Falls type, 300500
  • Eye Disorders
Tags
Red Red List (low evidence)
GPR179
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565
  • Eye Disorders
Tags
Red Red List (low evidence)
GRM6
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270
  • Eye Disorders
Tags
Red Red List (low evidence)
GRN
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • CEROID LIPOFUSCINOSIS, NEURONAL, 11, 614706
  • Eye Disorders
Tags
Red Red List (low evidence)
GSN
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • Amyloidosis, Finnish type, 105120
Tags
Red Red List (low evidence)
GTF2H5
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE, 616395
Tags
Red Red List (low evidence)
GUCA1A
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Cone dystrophy-3, 602093
  • Eye Disorders
Tags
Red Red List (low evidence)
GUCA1B
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 48, 613827
  • Eye Disorders
Tags
Red Red List (low evidence)
GUCY2D
2 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Cone-rod dystrophy 6, 601777
  • Leber congenital amaurosis 1, 204000
  • Eye Disorders
Tags
Red Red List (low evidence)
HARS
2 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Usher syndrome type 3B, 614504
  • Charcot-Marie-Tooth disease, axonal, type 2W, 616625
  • Eye Disorders
Tags
Red Red List (low evidence)
HDAC6
2 reviews
2 red
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, andmicrophthalmia, 300863
Tags
Red Red List (low evidence)
HSF4
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • Cataract 5, multiple types, 116800
Tags
Red Red List (low evidence)
IDH3B
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 46, 612572
  • Eye Disorders
Tags
Red Red List (low evidence)
IKBKG
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • London North GLH
Phenotypes
  • Incontinentia pigmenti, IP, 308300
Tags
Red Red List (low evidence)
IMPDH1
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Leber congenital amaurosis 11, 613837
  • Retinitis pigmentosa 10, 180105
  • Eye Disorders
Tags
Red Red List (low evidence)
IMPG2
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 56, 613581
  • Macular dystrophy, vitelliform, 5, 616152
  • Eye Disorders
Tags
Red Red List (low evidence)
INVS
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Nephronophthisis 2, infantile, 602088
  • Eye Disorders
Tags
Red Red List (low evidence)
IQCB1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Senior-Loken syndrome 5: an autosomal recessive disorder with the main features of nephronophthisis (NPHP, see 256100) and Leber congenital amaurosis (LCA, see 204000) 609254
  • Eye Disorders
Tags
Red Red List (low evidence)
ITPA
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Warburg Micro syndrome and Martsolf syndrome with variable cardiac manifestation
  • None
Tags
Red Red List (low evidence)
ITPR1
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • Gillespie syndrome, 206700
Tags
Red Red List (low evidence)
JAM3
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730
Tags
Red Red List (low evidence)
KAT6B
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • SBBYSS syndrome (blepharophimosis), 603736
Tags
Red Red List (low evidence)
KCNJ13
2 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Leber congenital amaurosis 16, 614186
  • Snowflake vitreoretinal degeneration, 193230
  • Eye Disorders
Tags
Red Red List (low evidence)
KCNV2
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Retinal cone dystrophy 3B, 610356
  • Eye Disorders
Tags
Red Red List (low evidence)
KCTD7
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS, 611726
  • Eye Disorders
Tags
Red Red List (low evidence)
KDM6A
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • London North GLH
Phenotypes
  • Kabuki Syndrome 2, KABUK2, 300867
Tags
Red Red List (low evidence)
KIF11
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • London North GLH
Phenotypes
  • Chorioretinopathy, Lymphedema or Mental Retardation, MCLMR, 152950
Tags
Red Red List (low evidence)
KIF7
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Joubert syndrome
  • Acrocallosal syndrom (JOUBERT SYNDROME 12), 200990
  • Acrocallosal syndrome
Tags
Red Red List (low evidence)
KLHL7
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 42, 612943
  • Eye Disorders
Tags
Red Red List (low evidence)
KRT12
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • Meesmann corneal dystrophy, 122100
Tags
Red Red List (low evidence)
KRT3
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • Meesmann corneal dystrophy, 122100
Tags
Red Red List (low evidence)
LCA5
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Leber congenital amaurosis 5, 604537
  • Eye Disorders
Tags
Red Red List (low evidence)
LCAT
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Norum disease, 245900
  • Fish-eye disease, 136120
Tags
Red Red List (low evidence)
LIM2
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Cataract 19, 615277
Tags
Red Red List (low evidence)
LMX1B
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • Nail-patella syndrome, 161200
Tags
Red Red List (low evidence)
LRAT
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Leber congenital amaurosis 14, 613341
  • Eye Disorders
Tags
Red Red List (low evidence)
LRIT3
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058
  • Eye Disorders
Tags
Red Red List (low evidence)
LRMDA
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • ALBINISM, OCULOCUTANEOUS, TYPE VII, 615179
  • Eye Disorders
Tags
Red Red List (low evidence)
LZTFL1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Bardet-Biedl syndrome 17, 615994
  • Eye Disorders
Tags
Red Red List (low evidence)
MAK
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 62, 614181
  • Eye Disorders
Tags
Red Red List (low evidence)
MAN2B1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Mannosidosis, alpha-, types I and II, 248500
Tags
Red Red List (low evidence)
MAPRE2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • London North GLH
Phenotypes
  • Skin Creases, Congenital Symmetric Circumferential, 2, CSCSC2, 616734
Tags
Red Red List (low evidence)
MERTK
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 38, 613862
  • Eye Disorders
Tags
Red Red List (low evidence)
MFN2
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Charcot-Marie-Tooth disease, type 2A2, 609260
  • Eye Disorders
Tags
Red Red List (low evidence)
MFSD8
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT, 616170
  • CEROID LIPOFUSCINOSIS, NEURONAL, 7, 610951
  • Eye Disorders
Tags
Red Red List (low evidence)
MIP
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • Cataract 15, multiple types, 615274
Tags
Red Red List (low evidence)
MIR184
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • EDICT syndrome, 614303
Tags
Red Red List (low evidence)
MKKS
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • 236700
  • Bardet-Biedl syndrome 6
  • 605231
  • McKusick-Kaufman syndrome
  • Eye Disorders
Tags
Red Red List (low evidence)
MKS1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Bardet-Biedl syndrome 13, 615990
  • Meckel syndrome 1, 249000
  • Eye Disorders
Tags
Red Red List (low evidence)
MPLKIP
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE, 234050
Tags
Red Red List (low evidence)
MTTP
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Abetalipoproteinemia, 200100
  • Eye Disorders
Tags
Red Red List (low evidence)
MYH9
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • Epstein Syndrome, 153650
  • Fechtner syndrome, 153640
Tags
Red Red List (low evidence)
MYO7A
2 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Deafness, autosomal recessive 2
  • Usher syndrome, type 1B, 276900
  • Deafness, autosomal dominant 11, 601317
  • Eye Disorders
Tags
Red Red List (low evidence)
NAA10
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 Red
  • NHS GMS
Phenotypes
  • Microphthalmia, syndromic 1, 309800
Tags
Red Red List (low evidence)
NDUFB11
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • London North GLH
Phenotypes
  • Linear Skin Defects with Multiple Congenital Anomalies 3, LSDMCA3, 300952
Tags
Red Red List (low evidence)
NF2
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • Neurofibromatosis, Type II, 101000
Tags
Red Red List (low evidence)
NOTCH2
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • Hajdu-Cheney syndrome, 102500
  • Alagille syndrome 2, 610205
Tags
Red Red List (low evidence)
NPHP1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • 609583
  • 266900
  • Joubert syndrome, Nephronophthisis
  • Joubert syndrome 4
  • Senior-Loken syndrome-1
  • 256100
  • Nephronophthisis 1, juvenile
Tags
Red Red List (low evidence)
NPHP3
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • 604387
  • Eye Disorders
  • Nephronophthisis 3
  • Meckel syndrome 7
  • Renal-hepatic-pancreatic dysplasia 1
  • 267010
  • 208540
Tags
Red Red List (low evidence)
NPHP4
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Nephronophthisis 4, 606966
  • Senior-Loken syndrome, 606996
  • Eye Disorders
Tags
Red Red List (low evidence)
NR2E3
2 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 37, 611131
  • Enhanced S-cone syndrome, 268100
  • Eye Disorders
Tags
Red Red List (low evidence)
NRL
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 27, 613750
  • Eye Disorders
Tags
Red Red List (low evidence)
NTF4
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Glaucoma 1, open angle, 1O, 613100
Tags
Red Red List (low evidence)
NYX
2 reviews
2 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Night blindness, congenital stationary (complete), 1A, X-linked, 310500
  • Eye Disorders
Tags
Red Red List (low evidence)
OAT
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Gyrate atrophy of choroid and retina with or without ornithinemia, 258870
  • Eye Disorders
Tags
Red Red List (low evidence)
OCA2
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Albinism, brown oculocutaneous, 203200
  • [Skin/hair/eye pigmentation 1, blue/nonblue eyes]
  • Albinism oculocutaneous, type II
  • [Skin/hair/eye pigmentation 1, blond/brown hair], 227220
  • Eye Disorders
Tags
Red Red List (low evidence)
OPA1
2 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Optic atrophy 1, 165500
  • Glaucoma, normal tension, susceptibility to, 210000
  • Optic atrophy plus syndrome, 125250
  • {Glaucoma, normal tension, susceptibility to} 606657
  • Behr syndrome
Tags
Red Red List (low evidence)
OPA3
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Optic atrophy 3 with cataract, 165300
  • Eye Disorders
Tags
Red Red List (low evidence)
OPTN
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Glaucoma 1, open angle, E, 137760
  • {Glaucoma, normal tension, susceptibility to} 606657
Tags
Red Red List (low evidence)
P3H2
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION, 614292
Tags
Red Red List (low evidence)
PAX3
2 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Waardenburg syndrome, type 1, 193500
  • Waardenburg syndrome, type 3, 148820
Tags
Red Red List (low evidence)
PCDH15
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Deafness, autosomal recessive 23, 609533
  • Usher syndrome, type 1F, 602083
  • Usher syndrome, type 1D/F digenic, 601067
  • Eye Disorders
Tags
Red Red List (low evidence)
PDE6A
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 43, 613810
  • Eye Disorders
Tags
Red Red List (low evidence)
PDE6B
2 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa-40
  • 613801
  • 163500
  • Night blindness, congenital stationary, autosomal dominant 2
  • Eye Disorders
Tags
Red Red List (low evidence)
PDE6C
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Cone dystrophy 4, 613093
  • Eye Disorders
Tags
Red Red List (low evidence)
PDE6G
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 57, 613582
  • Eye Disorders
Tags
Red Red List (low evidence)
PDE6H
2 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Achromatopsia 6, 610024
  • Eye Disorders
Tags
Red Red List (low evidence)
PDZD7
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472
  • Retinal disease in Usher syndrome type IIA, modifier of, 276901
  • Eye Disorders
Tags
Red Red List (low evidence)
PEX10
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Peroxisome biogenesis disorder 6B, 614871
Tags
Red Red List (low evidence)
PEX11B
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Peroxisome biogenesis disorder 14B, 614920
Tags
Red Red List (low evidence)
PEX12
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Peroxisome biogenesis disorder 3B, 266510
Tags
Red Red List (low evidence)
PEX13
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Peroxisome biogenesis disorder 11B, 614885
Tags
Red Red List (low evidence)
PEX14
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Peroxisome biogenesis disorder 13A (Zellweger), 614887
Tags
Red Red List (low evidence)
PEX16
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Peroxisome biogenesis disorder 8B, 614877
Tags
Red Red List (low evidence)
PEX19
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Peroxisome biogenesis disorder 12A (Zellweger), 614886
Tags
Red Red List (low evidence)
PEX2
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Peroxisome biogenesis disorder 5A (Zellweger), 614866
  • Peroxisome biogenesis disorder 5B, 614867
Tags
Red Red List (low evidence)
PEX26
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Peroxisome biogenesis disorder 7B, 614873
Tags
Red Red List (low evidence)
PEX3
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Peroxisome biogenesis disorder 10A (Zellweger), 603164
Tags
Red Red List (low evidence)
PEX5
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Peroxisome biogenesis disorder 2B, 202370
Tags
Red Red List (low evidence)
PEX6
2 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Peroxisome biogenesis disorder 4B, 614863
Tags
Red Red List (low evidence)
PEX7
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Peroxisome biogenesis disorder 9B, 614879
  • Rhizomelic chondrodysplasia punctata, type 1, 215100
  • Eye Disorders
Tags
Red Red List (low evidence)
PHYH
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Refsum disease, 266500
  • Eye Disorders
Tags
Red Red List (low evidence)
PIKFYVE
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • Corneal fleck dystrophy, 121850
Tags
Red Red List (low evidence)
PITPNM3
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Cone-rod dystrophy 5, 600977
  • Eye Disorders
Tags
Red Red List (low evidence)
PLA2G5
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • [Fleck retina, familial benign], 228980
  • Eye Disorders
Tags
Red Red List (low evidence)
POLH
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • XERODERMA PIGMENTOSUM, VARIANT TYPE, 278750
Tags
Red Red List (low evidence)
POLR1C
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Treacher-Collins Syndrome, 248390
Tags
Red Red List (low evidence)
POLR1D
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • Treacher-Collins Syndrome 2, 613717
Tags
Red Red List (low evidence)
POMGNT1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
Phenotypes
  • Muscular Dystrophy-Dystroglycanopathy, Type A, 3, MDDGA3, 253280
Tags
Red Red List (low evidence)
POMGNT2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
Phenotypes
  • Muscular Dystrophy-Dystroglycanopathy, Type A, 8, MDDGA8, 614830
Tags
Red Red List (low evidence)
PPT1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • CEROID LIPOFUSCINOSIS, NEURONAL, 1, 256730
  • Eye Disorders
Tags
Red Red List (low evidence)
PRCD
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 36, 610599
  • Eye Disorders
Tags
Red Red List (low evidence)
PRDM5
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Brittle cornea syndrome 2, 614170
Tags
Red Red List (low evidence)
PROM1
2 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Stargardt disease 4, 603786
  • Macular dystrophy, retinal, 2, 608051
  • Cone-rod dystrophy 12, 612657
  • Retinitis pigmentosa 41, 612095
  • Eye Disorders
Tags
Red Red List (low evidence)
PRPF3
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 18, 601414
  • Eye Disorders
Tags
Red Red List (low evidence)
PRPF31
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 11, 600138
  • Eye Disorders
Tags
Red Red List (low evidence)
PRPF6
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 60, 613983
  • Eye Disorders
Tags
Red Red List (low evidence)
PRPF8
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 13, 600059
  • Eye Disorders
Tags
Red Red List (low evidence)
PRPH2
2 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Retinitis punctata albescens, 136880
  • Leber congenital amaurosis 18, 608133
  • Macular dystrophy, patterned, 1, 169150
  • Eye Disorders
  • Macular dystrophy, vitelliform, 3, 608161
  • Choriodal dystrophy, central areolar 2, 613105
Tags
Red Red List (low evidence)
RAX2
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Macular degeneration, age-related, 6, 613757
  • Cone-rod dystrophy 11, 610381
  • Eye Disorders
Tags
Red Red List (low evidence)
RBP3
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • ?Retinitis pigmentosa 66, 615233
  • Eye Disorders
Tags
Red Red List (low evidence)
RD3
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Leber congenital amaurosis 12, 610612
  • Eye Disorders
Tags
Red Red List (low evidence)
RDH12
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Leber congenital amaurosis 13, 612712
  • Eye Disorders
Tags
Red Red List (low evidence)
RDH5
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Fundus albipunctatus, 136880
  • Eye Disorders
Tags
Red Red List (low evidence)
RERE
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • London North GLH
Phenotypes
  • Neurodevelopment Disorder with anomalies of the Brain, Eye and/or Heart, NEDBEH, 616975
Tags
Red Red List (low evidence)
RGR
2 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 44, 613769
  • Eye Disorders
Tags
Red Red List (low evidence)
RGS9
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Bradyopsia, 608415
  • Eye Disorders
Tags
Red Red List (low evidence)
RGS9BP
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Bradyopsia, 608415
  • Eye Disorders
Tags
Red Red List (low evidence)
RHO
2 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 4, autosomal dominant or recessive, 613731
  • Fundus albipunctatus, 136880
  • Night blindness, congenital stationary, autosomal dominant 1, 610445
  • Eye Disorders
Tags
Red Red List (low evidence)
RIMS1
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Cone-rod dystrophy 7, 603649
  • Eye Disorders
Tags
Red Red List (low evidence)
RIPK4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
Phenotypes
  • Popliteal pterygium syndrome, Bartsocas-Papas type, 263650
Tags
Red Red List (low evidence)
RLBP1
2 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • 136880
  • Eye Disorders
  • Newfoundland rod-cone dystrophy, Fundus albipunctatus
  • Bothnia retinal dystrophy
  • 607475
  • 607476
Tags
Red Red List (low evidence)
ROM1
2 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 7, digenic, 608133
  • Eye Disorders
Tags
Red Red List (low evidence)
RP1
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 1, 180100
  • Eye Disorders
Tags
Red Red List (low evidence)
RP2
2 reviews
2 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 2, 312600
  • Eye Disorders
Tags
Red Red List (low evidence)
RP9
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • ?Retinitis pigmentosa 9, 180104
  • Eye Disorders
Tags
Red Red List (low evidence)
RPE65
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Leber congenital amaurosis 2, 204100
  • Eye Disorders
Tags
Red Red List (low evidence)
RPGR
2 reviews
2 red
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Macular degeneration, X-linked atrophic, 300834
  • Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455
  • Cone-rod dystrophy, X-linked, 1, 304020
  • Retinitis pigmentosa 3, 300029
  • Eye Disorders
Tags
Red Red List (low evidence)
RPGRIP1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Cone-rod dystrophy 13, 608194
  • Leber congenital amaurosis 6, 613826
  • Eye Disorders
Tags
Red Red List (low evidence)
RS1
2 reviews
2 red
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Retinoschisis, 312700
  • Eye Disorders
Tags
Red Red List (low evidence)
SAG
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 47
  • Oguchi disease-1
  • 258100
  • 613758
  • Eye Disorders
Tags
Red Red List (low evidence)
SC5D
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • LATHOSTEROLOSIS, 607330
Tags
Red Red List (low evidence)
SDCCAG8
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Bardet-Biedl syndrome 16, 615993
  • Senior-Loken syndrome 7, 613615
  • Eye Disorders
Tags
Red Red List (low evidence)
SEC23A
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Craniolenticulosutural dysplasia, 607812
Tags
Red Red List (low evidence)
SEMA3E
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • CHARGE, 214800
Tags
Red Red List (low evidence)
SEMA4A
2 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 35, 610282
  • Cone-rod dystrophy 10, 610283
  • Eye Disorders
Tags
Red Red List (low evidence)
SIL1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Marinesco-Sjogren syndrome, 248800
Tags
Red Red List (low evidence)
SLC24A1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830
  • Eye Disorders
Tags
Red Red List (low evidence)
SLC24A5
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • ALBINISM, OCULOCUTANEOUS, TYPE VI, 113750
  • Eye Disorders
Tags
Red Red List (low evidence)
SLC25A24
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • London North GLH
Phenotypes
  • Gorlin-Chaudhry-Moss Syndrome, GCMS
  • Fontaine progeroid syndrome, 612289
Tags
Red Red List (low evidence)
SLC33A1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Congenital cataracts, hearing loss, and neurodegeneration, 614482
Tags
Red Red List (low evidence)
SLC45A2
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • [Skin/hair/eye pigmentation 5, black/nonblack hair]
  • [Skin/hair/eye pigmentation 5, dark/fair skin]
  • Albinism, oculocutaneous, type IV, 606574
  • [Skin/hair/eye pigmentation 5, dark/light eyes], 227240
  • Eye Disorders
Tags
Red Red List (low evidence)
SLC4A11
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Corneal endothelial dystrophy and perceptive deafness, 217400
  • Corneal dystrophy, Fuchs endothelial, 4, 613268
  • Corneal endothelial dystrophy 2, autosomal recessive, 217700
Tags
Red Red List (low evidence)
SMG9
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
Phenotypes
  • Heart and Brain Malformation Syndrome, HBMS, 616920
Tags
Red Red List (low evidence)
SNRNP200
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 33, 610359
  • Eye Disorders
Tags
Red Red List (low evidence)
SNX3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • London North GLH
Phenotypes
  • No OMIM
  • Microphthalmia, Syndromic 8, MCOPS8, 601349
Tags
Red Red List (low evidence)
SPATA7
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa, juvenile, autosomal recessive, 604232
  • Leber congenital amaurosis 3, 604232
  • Eye Disorders
Tags
Red Red List (low evidence)
SPINT2
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES, 270420
  • congenital sodium diarrhea with additional features
  • optic nerve coloboma
  • Diarrhea 3, secretory sodium, congenital, syndromic, 270420
Tags
Red Red List (low evidence)
TACSTD2
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Corneal dystrophy, gelatinous drop-like, 204870
Tags
Red Red List (low evidence)
TBX22
2 reviews
2 red
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • NHS GMS
Phenotypes
  • ?Abruzzo-Erickson syndrome, 302905
Tags
Red Red List (low evidence)
TCTN1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Joubert syndrome
  • Joubert syndrome 13, 614173
Tags
Red Red List (low evidence)
TCTN2
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Joubert syndrome
  • Joubert syndrome 24, 616654
  • Meckel-Gruber syndrome
  • Meckel syndrome 8, 613885
Tags
Red Red List (low evidence)
TCTN3
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Joubert syndrome
  • Orofaciodigital syndrome IV
  • Joubert syndrome 18, 614815
  • Orofaciodigital syndrome IV, 258860
Tags
Red Red List (low evidence)
TDRD7
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Cataract 36, 613887
Tags
Red Red List (low evidence)
TGFBI
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • 607541
  • Corneal dystrophy, lattice type IIIA
  • 608470
  • Corneal dystrophy, lattice type I
  • 122200
  • Corneal dystrophy, Reis-Bucklers type
  • 121900
  • Corneal dystrophy, Groenouw type I
  • Corneal dystrophy, epithelial basement membrane
  • 608471
  • Corneal dystrophy, Avellino type
  • 121820
  • Corneal dystrophy, Thiel-Behnke type
  • 602082
Tags
Red Red List (low evidence)
TIMM8A
2 reviews
2 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Mohr-Tranebjaerg syndrome, 304700
  • Eye Disorders
Tags
Red Red List (low evidence)
TIMP3
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Sorsby fundus dystrophy, 136900
  • Eye Disorders
Tags
Red Red List (low evidence)
TMEM126A
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Optic atrophy, 612989
  • Eye Disorders
Tags
Red Red List (low evidence)
TMEM138
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Joubert syndrome
  • Joubert syndrome 16, 614465
Tags
Red Red List (low evidence)
TMEM231
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Joubert syndrome
  • Joubert syndrome 20, 614970
  • Meckel-Gruber syndrome
  • Meckel syndrome 11, 615397
Tags
Red Red List (low evidence)
TMEM5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
Phenotypes
  • Muscular Dystrophy-Dystroglycanopathy, Type A, 10, MDDGA10, 615041
Tags
  • new-gene-name
Red Red List (low evidence)
TOPORS
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 31, 609923
  • Eye Disorders
Tags
Red Red List (low evidence)
TP53BP2
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Primary Open Angle Glaucoma
Tags
Red Red List (low evidence)
TPP1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • CEROID LIPOFUSCINOSIS, NEURONAL, 2, 204500
  • Eye Disorders
Tags
Red Red List (low evidence)
TRIM32
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Bardet-Biedl syndrome 11, 615988
  • Muscular dystrophy, limb-girdle, type 2H, 254110
  • Eye Disorders
Tags
Red Red List (low evidence)
TRIM44
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • ?Aniridia 3
  • ANIRIDIA 3, 617142
Tags
Red Red List (low evidence)
TRPM1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216
  • Eye Disorders
Tags
Red Red List (low evidence)
TSPAN12
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Exudative vitreoretinopathy 5, 613310
  • Eye Disorders
Tags
Red Red List (low evidence)
TTC21B
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY, 613819
  • Eye Disorders
Tags
Red Red List (low evidence)
TTC8
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 51, 613464
  • Bardet-Biedl syndrome 8, 615985
  • Eye Disorders
Tags
Red Red List (low evidence)
TUBB
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • London North GLH
Phenotypes
  • Skin Creases, Congenital Symmetric Circumferential, 2, CSCSC2, 156610
Tags
Red Red List (low evidence)
TULP1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • 613843
  • 600132
  • Retinitis pigmentosa 14
  • Leber congenital amaurosis 15
  • Eye Disorders
Tags
Red Red List (low evidence)
TYR
2 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • [Skin/hair/eye pigmentation 3, blue/green eyes]
  • Albinism, oculocutaneous, type IB, 606952
  • Eye Disorders
  • Waardenburg syndrome/albinism, digenic, 103470
  • [Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800
  • Albinism, oculocutaneous, type IA, 203100
  • {Melanoma, cutaneous malignant, susceptibility to, 8}
Tags
Red Red List (low evidence)
TYRP1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Albinism, oculocutaneous, type III, 203290
  • [Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)], 612271
  • Eye Disorders
Tags
Red Red List (low evidence)
UBIAD1
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • Corneal dystrophy, Schnyder type, 121800
Tags
Red Red List (low evidence)
UNC119
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Cone-rod dystrophy
  • Immunodeficiency 13, 615518
  • Eye Disorders
Tags
Red Red List (low evidence)
USH1C
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Deafness, autosomal recessive 18A, 602092
  • Usher syndrome type 1C, 276904
  • Eye Disorders
Tags
Red Red List (low evidence)
USH1G
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Usher syndrome, type 1G, 606943
  • Eye Disorders
Tags
Red Red List (low evidence)
USH2A
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 39, 613809
  • Usher syndrome type 2A, 276901
  • Eye Disorders
Tags
Red Red List (low evidence)
VCAN
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Wagner syndrome 1, 143200
  • Eye Disorders
Tags
Red Red List (low evidence)
VIM
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • Cataract 30, pulverulent, 116300
Tags
Red Red List (low evidence)
WDPCP
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • ?Bardet-Biedl syndrome 15, 615992
  • Eye Disorders
Tags
Red Red List (low evidence)
WDR36
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Glaucoma 1, open angle, G 609887
Tags
Red Red List (low evidence)
WFS1
2 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • ?Cataract 41, 116400
  • Wolfram-like syndrome, autosomal dominant, 614296
  • Wolfram syndrome, 222300
  • Eye Disorders
Tags
Red Red List (low evidence)
WHRN
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Usher syndrome, type 2D, 611383
  • Eye Disorders
Tags
Red Red List (low evidence)
WNT3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
Phenotypes
  • Tetraamelia Syndrome 1, TETAMS1, 273395
Tags
Red Red List (low evidence)
WRN
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Werner syndrome, 277700
Tags
Red Red List (low evidence)
WT1
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • WILMS TUMOR,ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME, 194072
  • Eye Disorders
Tags
Red Red List (low evidence)
XPA
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A, 278700
Tags
Red Red List (low evidence)
XPC
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C, 278720
Tags
Red Red List (low evidence)
ZEB1
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • Corneal dystrophy, Fuchs endothelial, 6, 613270
  • Corneal dystrophy, posterior polymorphous, 3, 609141
Tags
Red Red List (low evidence)
ZNF423
2 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Nephronophthisis 14, 614844
  • Joubert syndrome 19, 614844
  • Eye Disorders
Tags
Red Red List (low evidence)
ZNF513
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 58, 613617
  • Eye Disorders
Tags
No list No list
B3GALT1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • Peters-plus syndrome, 261540
Tags

Downloads

Download lists

Download Version