Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name ADGRA3 gene ADGRA3 Expert Review Red;NHS GMS Retinal disorders Ophthalmology No OMIM phenotype PMID: 23105016 identified a novel missense variant in a conserved residue in a Saudi Arabian family with nonsyndromic retinal pigmentosa. False 1 0;50;50 8.123 True ENSG00000152990 ENSG00000152990 HGNC:13839 AMN gene AMN Expert Review Red;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal False 1 0;0;100 8.123 False ENSG00000166126 ENSG00000166126 HGNC:14604 AP3B2 gene AP3B2 Expert list;Expert Review Red Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 48, OMIM:617276, MONDO:0015000 27889060 False 1 100;0;0 8.123 False ENSG00000103723 ENSG00000103723 HGNC:567 ARMS2 gene ARMS2 Expert Review Red;NHS GMS Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Macular Degeneration False 1 0;0;100 8.123 False ENSG00000254636 ENSG00000254636 HGNC:32685 ATP13A2 gene ATP13A2 Expert Review Red;NHS GMS Retinal disorders Ophthalmology Eye Disorders False 1 0;50;50 8.123 False ENSG00000159363 ENSG00000159363 HGNC:30213 ATXN7 gene ATXN7 Expert Review Red;NHS GMS;RetNet Retinal disorders Ophthalmology Other Spinocerebellar ataxia 7, OMIM:164500 False 1 0;100;0 8.123 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000163635 ENSG00000163635 HGNC:10560 B3GLCT gene B3GLCT Expert Review Red;NHS GMS Retinal disorders Ophthalmology Eye Disorders False 1 0;100;0 8.123 False ENSG00000187676 ENSG00000187676 HGNC:20207 BCOR gene BCOR Expert Review Red;NHS GMS Retinal disorders Ophthalmology Eye Disorders False 1 0;100;0 8.123 False ENSG00000183337 ENSG00000183337 HGNC:20893 BMP4 gene BMP4 Expert Review Red;NHS GMS Retinal disorders Ophthalmology Eye Disorders False 1 0;100;0 8.123 False ENSG00000125378 ENSG00000125378 HGNC:1071 C2 gene C2 Expert Review Red;NHS GMS Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Macular degeneration, age-related, 14, reduced risk of}, OMIM:615489 False 1 0;0;100 8.123 False ENSG00000166278 ENSG00000166278 HGNC:1248 C3 gene C3 Expert Review Red;NHS GMS Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Macular Degeneration False 1 0;0;100 8.123 False ENSG00000125730 ENSG00000125730 HGNC:1318 C5orf42 gene C5orf42 Expert Review Red;NHS GMS Retinal disorders Ophthalmology Eye Disorders False 1 100;0;0 8.123 False ENSG00000197603 ENSG00000197603 HGNC:25801 CA4 gene CA4 Expert Review Red;NHS GMS Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Retinitis pigmentosa 17, OMIM:600852, MONDO:0010945 15563508;17652713;15090652;16260723 False 1 0;33;67 8.123 True ENSG00000167434 ENSG00000167434 HGNC:1375 CCZ1B gene CCZ1B Literature;NHS GMS Retinal disorders Ophthalmology Retinitis pigmentosa 28041643 False 1 0;0;100 8.123 False ENSG00000146574 ENSG00000146574 HGNC:21717 CEP41 gene CEP41 Expert Review Red;NHS GMS Retinal disorders Ophthalmology Eye Disorders False 1 0;100;0 8.123 False ENSG00000106477 ENSG00000106477 HGNC:12370 CFB gene CFB Expert Review Red;NHS GMS Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Macular Degeneration False 1 0;0;100 8.123 False ENSG00000243649 ENSG00000243649 HGNC:1037 CFI gene CFI Expert Review Red;Literature Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Macular degeneration, age related, 13, susceptibility to, OMIM:615439;retinal disorder, MONDO:0005283 25986072 False 1 0;50;50 8.123 False ENSG00000205403 ENSG00000205403 HGNC:5394 CIB2 gene CIB2 Expert Review Red;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Eye Disorders 23023331;23023331;26173970;26473954;27344577;26226137;26445815 False 1 50;0;50 8.123 True ENSG00000136425 ENSG00000136425 HGNC:24579 COL11A2 gene COL11A2 Expert Review Red;NHS GMS Retinal disorders Ophthalmology Eye Disorders False 1 50;50;0 8.123 False ENSG00000204248 ENSG00000204248 HGNC:2187 COQ4 gene COQ4 Literature Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 7, OMIM:616276;neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, MONDO:0014562 36266294 False 1 0;0;100 8.123 False ENSG00000167113 ENSG00000167113 HGNC:19693 CROCC gene CROCC Literature;NHS GMS Retinal disorders Ophthalmology Retinitis pigmentosa 28041643 False 1 0;0;100 8.123 False ENSG00000058453 ENSG00000058453 HGNC:21299 CTSF gene CTSF Expert list;Expert Review Red Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 13, Kufs type, OMIM:615362 False 1 100;0;0 8.123 False ENSG00000174080 ENSG00000174080 HGNC:2531 CUBN gene CUBN Expert Review Red;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Megaloblastic anemia-1, Finnish type False 1 0;0;100 8.123 False ENSG00000107611 ENSG00000107611 HGNC:2548 CYP1B1 gene CYP1B1 Expert Review Red;NHS GMS Retinal disorders Ophthalmology Eye Disorders False 1 0;100;0 8.123 False ENSG00000138061 ENSG00000138061 HGNC:2597 CYP27A1 gene CYP27A1 Expert Review Red;NHS GMS Retinal disorders Ophthalmology Eye Disorders False 1 0;0;100 8.123 False ENSG00000135929 ENSG00000135929 HGNC:2605 DTHD1 gene DTHD1 Expert Review Red;NHS GMS Retinal disorders Ophthalmology No OMIM disease ID False 1 0;0;100 8.123 False ENSG00000197057 ENSG00000197057 HGNC:37261 EMC1 gene EMC1 Expert Review Red;NHS GMS Retinal disorders Ophthalmology No OMIM disease ID False 1 0;0;100 8.123 False ENSG00000127463 ENSG00000127463 HGNC:28957 FAM71A gene FAM71A Literature;NHS GMS Retinal disorders Ophthalmology Retinitis pigmentosa 28041643 False 1 0;0;100 8.123 False ENSG00000162771 ENSG00000162771 HGNC:26541 FBLN5 gene FBLN5 Expert Review Red;NHS GMS Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Macular degeneration, age-related, 3, OMIM:608895;Neuropathy, hereditary, with or without age-related macular degeneration, OMIM:608895 False 1 0;0;100 8.123 False ENSG00000140092 ENSG00000140092 HGNC:3602 FOXC1 gene FOXC1 Expert Review Red;NHS GMS Retinal disorders Ophthalmology Eye Disorders False 1 0;0;100 8.123 False ENSG00000054598 ENSG00000054598 HGNC:3800 FOXE3 gene FOXE3 Expert Review Red;NHS GMS Retinal disorders Ophthalmology Eye Disorders False 1 0;0;100 8.123 False ENSG00000186790 ENSG00000186790 HGNC:3808 FOXI2 gene FOXI2 Literature;NHS GMS Retinal disorders Ophthalmology Retinitis pigmentosa 28041643 False 1 0;0;100 8.123 False ENSG00000186766 ENSG00000186766 HGNC:32448 FRAS1 gene FRAS1 Expert Review Red;NHS GMS Retinal disorders Ophthalmology Eye Disorders False 1 0;0;100 8.123 False ENSG00000138759 ENSG00000138759 HGNC:19185 FREM1 gene FREM1 Expert Review Red;NHS GMS Retinal disorders Ophthalmology Eye Disorders False 1 0;0;100 8.123 False ENSG00000164946 ENSG00000164946 HGNC:23399 FREM2 gene FREM2 Expert Review Red;NHS GMS Retinal disorders Ophthalmology Eye Disorders False 1 0;0;100 8.123 False ENSG00000150893 ENSG00000150893 HGNC:25396 FSCN2 gene FSCN2 Expert Review Red;NHS GMS Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Macular Dystrophy/Degeneration/Stargardt Disease;Eye Disorders;Retinitis pigmentosa;Retinitis pigmentosa 30, 607921 False 1 0;0;100 8.123 False ENSG00000186765 ENSG00000186765 HGNC:3960 FUT5 gene FUT5 Literature;NHS GMS Retinal disorders Ophthalmology Retinal dystrophy 28041643 False 1 0;0;100 8.123 False ENSG00000130383 ENSG00000130383 HGNC:4016 GNPTAB gene GNPTAB NHS GMS Retinal disorders Ophthalmology False 1 100;0;0 8.123 False ENSG00000111670 ENSG00000111670 HGNC:29670 GP1BA gene GP1BA Expert Review Red;NHS GMS Retinal disorders Ophthalmology Bernard-Soulier syndrome, type A1 (recessive), 231200 False 1 0;0;100 8.123 False ENSG00000185245 ENSG00000185245 HGNC:4439 GRIP1 gene GRIP1 Expert Review Red;NHS GMS Retinal disorders Ophthalmology Eye Disorders False 1 0;0;100 8.123 False ENSG00000155974 ENSG00000155974 HGNC:18708 HARS gene HARS Expert Review Red;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Usher syndrome type 3B;Usher syndrome 22279524 False 1 50;0;50 8.123 True ENSG00000170445 ENSG00000170445 HGNC:4816 HKDC1 gene HKDC1 Expert Review Red;Literature Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 92, OMIM:619614 30085091 False 1 0;0;100 8.123 False ENSG00000156510 ENSG00000156510 HGNC:23302 HMCN1 gene HMCN1 Expert Review Red;NHS GMS Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Macular Degeneration False 1 0;0;100 8.123 False ENSG00000143341 ENSG00000143341 HGNC:19194 HTRA1 gene HTRA1 Expert Review Red;NHS GMS Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Macular Degeneration False 1 0;0;100 8.123 False ENSG00000166033 ENSG00000166033 HGNC:9476 INVS gene INVS Expert Review Red;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Nephronophthisis 2, infantile False 1 0;0;100 8.123 False ENSG00000119509 ENSG00000119509 HGNC:17870 IRX5 gene IRX5 Literature;NHS GMS Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown cone dystrophy, MONDO:0000455;retinitis pigmentosa, MONDO:0019200 28041643;33891002 False 1 0;50;50 8.123 False Other ENSG00000176842 ENSG00000176842 HGNC:14361 IRX6 gene IRX6 Literature Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown cone dystrophy, MONDO:0000455 33891002 False 1 0;50;50 8.123 False Other ENSG00000159387 ENSG00000159387 HGNC:14675 ITIH2 gene ITIH2 Literature;NHS GMS Retinal disorders Ophthalmology Stargardt disease 28041643 False 1 0;0;100 8.123 False ENSG00000151655 ENSG00000151655 HGNC:6167 ITM2B gene ITM2B Expert list;Expert Review Red;NHS GMS Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities (OMIM) False 1 0;0;100 8.123 False ENSG00000136156 ENSG00000136156 HGNC:6174 KCTD7 gene KCTD7 Expert Review Red;NHS GMS Retinal disorders Ophthalmology Eye Disorders False 1 0;0;100 8.123 False ENSG00000243335 ENSG00000243335 HGNC:21957 KIF7 gene KIF7 Expert Review Red;NHS GMS Retinal disorders Ophthalmology Eye Disorders False 1 0;100;0 8.123 False ENSG00000166813 ENSG00000166813 HGNC:30497 LRMDA gene LRMDA Expert Review Red;NHS GMS Retinal disorders Ophthalmology Eye Disorders False 1 50;0;50 8.123 False ENSG00000148655 ENSG00000148655 HGNC:23405 LRP1 gene LRP1 Expert Review Red;Literature Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Macular drusen 33776059 False 1 0;0;100 8.123 False ENSG00000123384 ENSG00000123384 HGNC:6692 MFN2 gene MFN2 Expert Review Red;NHS GMS Retinal disorders Ophthalmology Optic Atrophy;Eye Disorders False 1 0;100;0 8.123 False ENSG00000116688 ENSG00000116688 HGNC:16877 MT-ND1 gene MT-ND1 Expert Review Red;NHS GMS Retinal disorders Ophthalmology MITOCHONDRIAL False 1 0;100;0 8.123 False ENSG00000198888 ENSG00000198888 HGNC:7455 MT-ND4 gene MT-ND4 Expert Review Red;NHS GMS Retinal disorders Ophthalmology MITOCHONDRIAL False 1 0;100;0 8.123 False ENSG00000198886 ENSG00000198886 HGNC:7459 MT-ND6 gene MT-ND6 Expert Review Red;NHS GMS Retinal disorders Ophthalmology MITOCHONDRIAL False 1 0;100;0 8.123 False ENSG00000198695 ENSG00000198695 HGNC:7462 MYOC gene MYOC Expert Review Red;NHS GMS Retinal disorders Ophthalmology Eye Disorders False 1 0;0;100 8.123 False ENSG00000034971 ENSG00000034971 HGNC:7610 NAALADL1 gene NAALADL1 Literature;NHS GMS Retinal disorders Ophthalmology Retinitis pigmentosa 28041643 False 1 0;0;100 8.123 False ENSG00000168060 ENSG00000168060 HGNC:23536 NEK2 gene NEK2 Expert Review Red;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal ?Retinitis pigmentosa 67, 615565 False 1 0;0;100 8.123 False ENSG00000117650 ENSG00000117650 HGNC:7745 NR2F1 gene NR2F1 Expert Review Red;NHS GMS Retinal disorders Ophthalmology Bosch-Boonstra-Schaaf optic atrophy syndrome, OMIM:615722 False 1 50;0;50 8.123 False ENSG00000175745 ENSG00000175745 HGNC:7975 NUMB gene NUMB Literature;NHS GMS Retinal disorders Ophthalmology Cone-rod dystrophy 28041643 False 1 0;0;100 8.123 False ENSG00000133961 ENSG00000133961 HGNC:8060 OCA2 gene OCA2 Expert Review Red;NHS GMS Retinal disorders Ophthalmology Eye Disorders False 1 67;0;33 8.123 False ENSG00000104044 ENSG00000104044 HGNC:8101 OPA1 gene OPA1 Expert Review Red;NHS GMS Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Optic atrophy 1, OMIM:165500;Optic atrophy plus syndrome, OMIM:125250 False 1 67;0;33 8.123 False ENSG00000198836 ENSG00000198836 HGNC:8140 OPA3 gene OPA3 Expert Review Red;NHS GMS Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autosomal Dominant Optic Atrophy;Eye Disorders False 1 50;0;50 8.123 False ENSG00000125741 ENSG00000125741 HGNC:8142 OR2M7 gene OR2M7 Literature;NHS GMS Retinal disorders Ophthalmology Other (any phenotype with frequency of fewer than eight individuals) 28041643 False 1 0;0;100 8.123 False ENSG00000177186 ENSG00000177186 HGNC:19594 PDAP1 gene PDAP1 Expert Review Red;NHS GMS Retinal disorders Ophthalmology Retinitis Pigmentosa False 1 0;0;100 8.123 False ENSG00000106244 ENSG00000106244 HGNC:14634 PDZD7 gene PDZD7 Expert Review Red;NHS GMS Retinal disorders Ophthalmology Eye Disorders False 1 0;100;0 8.123 False ENSG00000186862 ENSG00000186862 HGNC:26257 PITPNM3 gene PITPNM3 Expert Review Red;NHS GMS Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Achromatopsia, Cone, and Cone-rod Dystrophy;Eye Disorders;Cone-Rod Dystrophy, Dominant;Cone-rod dystrophy 5, 600977 False 1 0;0;100 8.123 True ENSG00000091622 ENSG00000091622 HGNC:21043 PITX2 gene PITX2 Expert Review Red;NHS GMS Retinal disorders Ophthalmology Eye Disorders False 1 0;0;100 8.123 False ENSG00000164093 ENSG00000164093 HGNC:9005 PITX3 gene PITX3 Expert Review Red;NHS GMS Retinal disorders Ophthalmology Eye Disorders False 1 0;0;100 8.123 False ENSG00000107859 ENSG00000107859 HGNC:9006 PLD4 gene PLD4 Literature;NHS GMS Retinal disorders Ophthalmology Usher syndrome 28041643 False 1 0;0;100 8.123 False ENSG00000166428 ENSG00000166428 HGNC:23792 PODNL1 gene PODNL1 Literature;NHS GMS Retinal disorders Ophthalmology Retinal dystrophy 28041643 False 1 0;0;100 8.123 False ENSG00000132000 ENSG00000132000 HGNC:26275 POMZP3 gene POMZP3 Literature;NHS GMS Retinal disorders Ophthalmology Cone dystrophy 28041643 False 1 0;0;100 8.123 False ENSG00000146707 ENSG00000146707 HGNC:9203 PRTFDC1 gene PRTFDC1 Literature;NHS GMS Retinal disorders Ophthalmology Retinitis pigmentosa 28041643 False 1 0;0;100 8.123 False ENSG00000099256 ENSG00000099256 HGNC:23333 PTBP1 gene PTBP1 Other Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder, MONDO:0700092;STAD syndrome, OMIM:621495 40965981 False 1 0;0;100 8.123 False ENSG00000011304 ENSG00000011304 HGNC:9583 RB1 gene RB1 Expert Review Red;NHS GMS Retinal disorders Ophthalmology Retinoblastoma False 1 0;100;0 8.123 False ENSG00000139687 ENSG00000139687 HGNC:9884 RGS9BP gene RGS9BP Expert Review Red;NHS GMS Retinal disorders Ophthalmology Achromatopsia, Cone, and Cone-rod Dystrophy;Eye Disorders False 1 0;100;0 8.123 False ENSG00000186326 ENSG00000186326 HGNC:30304 RIMS1 gene RIMS1 Expert Review Red;NHS GMS Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Achromatopsia, Cone, and Cone-rod Dystrophy;Eye Disorders;Cone-Rod Dystrophy, Dominant;Cone-rod dystrophy 7, 603649 False 1 0;50;50 8.123 False ENSG00000079841 ENSG00000079841 HGNC:17282 SLC24A5 gene SLC24A5 Expert Review Red;NHS GMS Retinal disorders Ophthalmology Eye Disorders False 1 50;0;50 8.123 False ENSG00000188467 ENSG00000188467 HGNC:20611 SLC45A2 gene SLC45A2 Expert Review Red;NHS GMS Retinal disorders Ophthalmology Eye Disorders False 1 50;0;50 8.123 False ENSG00000164175 ENSG00000164175 HGNC:16472 SLC7A14 gene SLC7A14 Expert Review Red;NHS GMS Retinal disorders Ophthalmology Retinitis pigmentosa 68, 615725 (3) False 1 0;0;100 8.123 False ENSG00000013293 ENSG00000013293 HGNC:29326 SMOC1 gene SMOC1 Expert Review Red;NHS GMS Retinal disorders Ophthalmology Eye Disorders False 1 0;0;100 8.123 False ENSG00000198732 ENSG00000198732 HGNC:20318 SOX2 gene SOX2 Expert Review Red;NHS GMS Retinal disorders Ophthalmology Eye Disorders;Retinitis pigmentosa 33, 610359 False 1 0;100;0 8.123 False ENSG00000181449 ENSG00000181449 HGNC:11195 SPTLC2 gene SPTLC2 Expert Review Red;Literature Retinal disorders Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted macular telangiectasia type 2;vision loss;neuropathy 31509666 False 1 100;0;0 8.123 False ENSG00000100596 ENSG00000100596 HGNC:11278 STRA6 gene STRA6 Expert Review Red;NHS GMS Retinal disorders Ophthalmology Eye Disorders False 1 0;0;100 8.123 False ENSG00000137868 ENSG00000137868 HGNC:30650 TCTN1 gene TCTN1 Expert Review Red;NHS GMS Retinal disorders Ophthalmology Eye Disorders False 1 0;0;100 8.123 False ENSG00000204852 ENSG00000204852 HGNC:26113 TCTN2 gene TCTN2 Expert Review Red;NHS GMS Retinal disorders Ophthalmology Eye Disorders False 1 0;0;100 8.123 False ENSG00000168778 ENSG00000168778 HGNC:25774 TCTN3 gene TCTN3 Expert Review Red;NHS GMS Retinal disorders Ophthalmology Eye Disorders False 1 0;0;100 8.123 False ENSG00000119977 ENSG00000119977 HGNC:24519 TEX28 gene TEX28 Expert Review Red;NHS GMS Retinal disorders Ophthalmology No OMIM phenotype False 1 0;0;100 8.123 False ENSG00000185254 ENSG00000278057 HGNC:2563 TMEM126A gene TMEM126A Expert Review Red;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Optic Atrophy, Recessive;Eye Disorders False 1 50;0;50 8.123 False ENSG00000171202 ENSG00000171202 HGNC:25382 TMEM67 gene TMEM67 Expert Review Red;NHS GMS Retinal disorders Ophthalmology Eye Disorders False 1 100;0;0 8.123 False ENSG00000164953 ENSG00000164953 HGNC:28396 TRIM32 gene TRIM32 Expert Review Red;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 11, OMIM:615988 16606853 False 1 33;0;67 8.123 True ENSG00000119401 ENSG00000119401 HGNC:16380 TYR gene TYR Expert Review Red;NHS GMS Retinal disorders Ophthalmology Eye Disorders False 1 50;0;50 8.123 False ENSG00000077498 ENSG00000077498 HGNC:12442 TYRP1 gene TYRP1 Expert Review Red;NHS GMS Retinal disorders Ophthalmology Eye Disorders False 1 50;0;50 8.123 False ENSG00000107165 ENSG00000107165 HGNC:12450 VAX1 gene VAX1 Expert Review Red;NHS GMS Retinal disorders Ophthalmology Eye Disorders False 1 0;0;100 8.123 False ENSG00000148704 ENSG00000148704 HGNC:12660 WASF3 gene WASF3 Literature;NHS GMS Retinal disorders Ophthalmology Cone-rod dystrophy 28041643 False 1 0;0;100 8.123 False ENSG00000132970 ENSG00000132970 HGNC:12734 WFS1 gene WFS1 Expert Review Red;NHS GMS Retinal disorders Ophthalmology Eye Disorders False 1 0;0;100 8.123 False ENSG00000109501 ENSG00000109501 HGNC:12762 WT1 gene WT1 Expert Review Red;NHS GMS Retinal disorders Ophthalmology Eye Disorders False 1 0;0;100 8.123 False ENSG00000184937 ENSG00000184937 HGNC:12796 ZNF513 gene ZNF513 Expert Review Red;NHS GMS Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal Eye Disorders;Retinitis Pigmentosa, Dominant;Retinitis pigmentosa;Retinitis pigmentosa 58, 613617 False 1 0;50;50 8.123 False ENSG00000163795 ENSG00000163795 HGNC:26498 ZPR1 gene ZPR1 Expert Review Red;Literature Retinal disorders Ophthalmology BIALLELIC, autosomal or pseudoautosomal ?Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, OMIM:619321 29851065 False 1 0;0;100 8.123 False ENSG00000109917 ENSG00000109917 HGNC:13051