Structural eye disease (Version 1.66)

The latest signed off version for the GMS is v1.3. The current version, shown here, may differ from the signed-off version.

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 (version 1.3: https://panelapp.genomicsengland.co.uk/api/v1/panels/509/?version=1.3) was signed off under NHS Genomic Medicine Service governance on 4 Mar 2020.

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process.  The content that is agreed for the GMS panels will be reflected in an updated version number.

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)

Panel Activity

13 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
Owen Siggs (Flinders University)

Group: Other
Workplace: Research lab
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
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
Catherine Snow (Genomics England)

Group: Other
Workplace: Other
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Group: GeCIP domain
Workplace: NHS clinical service
Zerin Hyder (Genomics England)

Group: Other
Workplace: Other
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other

479 Entities

478 reviewed, 114 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 479 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)	B3GALNT2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Muscular Dystrophy-Dystroglycanopathy, Type A, 11, 615181 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	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Cataract 9, multiple types, OMIM:604219 Anterior segment dysgenesis, MONDO:0019503 microphthalmia, MONDO:0021129 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	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Singleton-Merten syndrome 2, OMIM:616298 Singleton-Merten syndrome 2, MONDO:0014575 Tags
Green Green List (high evidence)	DOCK6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Adams-Oliver Syndrome 2, AOS2, 614219 Tags
Green Green List (high evidence)	ESCO2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes SC Phocomelia Syndrome, 269000 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)	FKTN	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Muscular Dystrophy-Dystroglycanopathy, Type A, 4, MDDGA4, 253800 Tags
Green Green List (high evidence)	FOXC1	3 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	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	3 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)	MAPRE2	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Symmetric circumferential skin creases, congenital, 2, 616734 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)	MYRF	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Nanophthalmos High hyperopia Tags
Green Green List (high 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 Green NHS GMS Phenotypes Microphthalmia, syndromic 1, 309800 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	3 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)	POMGNT1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Muscular Dystrophy-Dystroglycanopathy, Type A, 3, MDDGA3, 253280 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)	POMT2	3 reviews 2 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, 2, 613150 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)	RERE	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Phenotypes Neurodevelopment Disorder with anomalies of the Brain, Eye and/or Heart, NEDBEH, 616975 Tags
Green Green List (high evidence)	RIPK4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Popliteal pterygium syndrome, Bartsocas-Papas type, 263650 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	3 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 OMIM:609218 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216 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	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Microphthalmia, syndromic 15, OMIM:615145 ?Microphthalmia, isolated, with coloboma 9, OMIM:615145 Microphthalmia, isolated, with coloboma 9, MONDO:0014059 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 Nanophthalmos 4, OMIM:615972 Nanophthalmos 4, MONDO:0014426 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)	ALX1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Frontonasal Dysplasia 3, FND3, 613456 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)	C16orf62	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes 3C/Ritscher-Schinzel-like syndrome Tags new-gene-name
Amber Amber List (moderate evidence)	CAPN15	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes microphthalmia HP:0000568 coloboma HP:0000589 Tags for-review
Amber Amber List (moderate evidence)	CDH2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, OMIM:618929 Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MONDO:0030065 Tags for-review
Amber Amber List (moderate evidence)	CDK5RAP2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Microcephaly 3, primary, autosomal recessive, OMIM:604804, MONDO:0011488 Tags watchlist
Amber Amber List (moderate evidence)	CDON	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Holoprosencephaly 11, OMIM:614226, MONDO:0013642 Tags for-review
Amber Amber List (moderate evidence)	CENPF	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Stromme syndrome, OMIM:243605, MONDO:0009477 Tags for-review
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)	COL6A3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Peters anomaly Tags
Amber Amber List (moderate evidence)	COX7B	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Linear Skin Defects with Multiple Congenital Anomalies 2, LSDMCA2, 300887 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)	CREBBP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Rubinstein-Taybi syndrome 1, OMIM:180849 Tags Q2_21_rating
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 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Cataract 17, multiple types, 611544 Tags for-review
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)	DAG1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818 Tags
Amber Amber List (moderate evidence)	DYRK1A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Phenotypes Mental retardation, autosomal dominant 7, OMIM:614104 Tags for-review
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)	FANCL	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Fanconi Anemia, Complementation Group L, FANCL, 614083 Tags
Amber Amber List (moderate evidence)	FKRP	3 reviews 2 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, 5, 606612 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 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes Coloboma, None Tags for-review
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)	IFIH1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Singleton-Merten syndrome 1, OMIM:182250 Tags Q2_21_rating
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)	KDM6A	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Kabuki Syndrome 2, KABUK2, 300867 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)	KIF11	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Chorioretinopathy, Lymphedema or Mental Retardation, MCLMR, 152950 Tags
Amber Amber List (moderate evidence)	LMX1B	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes Nail-patella syndrome, OMIM:161200 Tags Q2_21_rating
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)	NUP188	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Sandestig-Stefanova syndrome, OMIM:618804, MONDO:0032926 Tags watchlist
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, OMIM:309000 Tags Q2_21_rating
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)	PLK4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM:616171 microcephaly and chorioretinopathy 2, MONDO:0014516 Tags watchlist
Amber Amber List (moderate evidence)	POMGNT2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Muscular Dystrophy-Dystroglycanopathy, Type A, 8, MDDGA8, 614830 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)	RHOA	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Phenotypes ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, MONDO:0032884 Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic, OMIM:618727 Tags watchlist
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)	SLC25A24	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Gorlin-Chaudhry-Moss Syndrome, GCMS Fontaine progeroid syndrome, 612289 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)	SMG9	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Heart and Brain Malformation Syndrome, HBMS, 616920 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)	TEK	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Glaucoma 3, primary congenital, E, OMIM:617272 Tags Q2_21_rating
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)	TOGARAM1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes TOGARAM1-related ciliopathy Tags watchlist
Amber Amber List (moderate evidence)	TUBB	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Skin Creases, Congenital Symmetric Circumferential, 2, CSCSC2, 156610 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)	WDR37	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Other Phenotypes corneal opacity Peters anomaly coloboma microcornea Neurooculocardiogenitourinary syndrome, OMIM:61865, MONDO:0032850 Tags for-review
Amber Amber List (moderate evidence)	WNT2B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Diarrhoea 9, OMIM:618168 microcornea coloboma, MONDO:0001476 Tags watchlist
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)	ALX3	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS 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)	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)	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	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS 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)	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)	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)	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	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Fanconi Anemia, Complementation Group A, FA, 227650 Tags
Red Red List (low evidence)	FANCD2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Fanconi Anemia, Complementation Group D2, FANCD2, 227646 Tags
Red Red List (low evidence)	FANCE	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Fanconi Anemia, Complementation Group E, FANCE, 600901 Tags
Red Red List (low evidence)	FANCI	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Fanconi Anemia, Complementation Group I, FANCI, 609053 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	3 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 new-gene-name
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	2 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red London North GLH NHS GMS 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)	KIF26B	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list 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)	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)	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)	NDUFB11	2 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red London North GLH NHS GMS Phenotypes Linear Skin Defects with Multiple Congenital Anomalies 3, LSDMCA3, 300952 Tags
Red Red List (low evidence)	NF2	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS Phenotypes Neurofibromatosis, type 2 OMIM:101000 neurofibromatosis type 2 MONDO:0007039 Tags for-review
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)	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)	RARA	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Phenotypes Coloboma 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)	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)	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)	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)	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	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red London North GLH NHS GMS Phenotypes No OMIM Microphthalmia, Syndromic 8, MCOPS8, 601349 Tags
Red Red List (low evidence)	SPATA13	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes primary angle-closure glaucoma Tags adult-onset
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)	TBC1D23	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes coloboma, MONDO:0001476 strabismus, MONDO:0003432 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	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS 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)	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	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS 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 curated_removed

Major version comments

2019-11-19 12:33 Ivone Leong (Genomics England Curator) promoted panel to 1.0
The content of this panel (version 0.95) was signed off under NHS Genomic Medicine Service governance on (19/11/2019). The panel was promoted to the next major version (version 1.0) as a result of this.

Structural eye disease (Version 1.66)

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Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags