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;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa, MONDO:0019200, ADGRA3-related Abnormal retinal morphology;HP:0000479 23105016 False 1 0;0;100 6.257 True ENSG00000152990 ENSG00000152990 HGNC:13839 CA4 gene CA4 Expert Review Red;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Retinitis pigmentosa 17, 600852 Abnormal retinal morphology;HP:0000479 15563508;15090652;17652713;16260723 False 1 0;0;100 6.257 True ENSG00000167434 ENSG00000167434 HGNC:1375 CCT2 gene CCT2 Expert Review Red;NHS GMS Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leber's congenital amaurosis Abnormal retinal morphology;HP:0000479 27645772;29450543 False 1 0;0;100 6.257 True ENSG00000166226 ENSG00000166226 HGNC:1615 CEP19 gene CEP19 Expert Review Red;Expert list Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome Abnormal retinal morphology;HP:0000479 29127258;24268657 False 1 0;0;100 6.257 True ENSG00000174007 ENSG00000174007 HGNC:28209 CIB2 gene CIB2 Expert Review Red;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type IJ, 614869 Abnormal retinal morphology;HP:0000479 23023331;23023331;26173970;26473954;27344577;26226137;26445815 False 1 0;0;100 6.257 True ENSG00000136425 ENSG00000136425 HGNC:24579 CNGA3 gene CNGA3 Expert Review Red;Expert list Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Achromatopsia 2 MIM#216900 Abnormal retinal morphology;HP:0000479 9662398;11536077;17265047 False 1 100;0;0 6.257 True ENSG00000144191 ENSG00000144191 HGNC:2150 DTHD1 gene DTHD1 Expert list Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis with muscle dystrophy Abnormal retinal morphology;HP:0000479 23105016 False 1 0;0;100 6.257 False ENSG00000197057 ENSG00000197057 HGNC:37261 ESPN gene ESPN Expert Review Red;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 1M, MIM#618632 Abnormal retinal morphology;HP:0000479 29572253 False 1 0;0;100 6.257 True ENSG00000187017 ENSG00000187017 HGNC:13281 FSCN2 gene FSCN2 Expert Review Red;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Retinitis pigmentosa 30 MIM#607921;Macular degeneration Abnormal retinal morphology;HP:0000479 11527955;16043865;16280978;17251446;18450588 False 1 0;0;100 6.257 True ENSG00000186765 ENSG00000186765 HGNC:3960 FSCN2 gene FSCN2 Expert Review Red;Royal Melbourne Hospital;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Retinitis pigmentosa 30 MIM#607921;Macular degeneration Abnormal retinal morphology;HP:0000479 16043865;18450588 False 1 0;0;100 6.257 True ENSG00000186765 ENSG00000186765 HGNC:3960 HARS gene HARS Expert Review Red;Royal Melbourne Hospital;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Usher syndrome type 3B Abnormal retinal morphology;HP:0000479 False 1 0;0;100 6.257 True ENSG00000170445 ENSG00000170445 HGNC:4816 HARS gene HARS Expert Review Red;RetNet;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Usher syndrome type 3B Abnormal retinal morphology;HP:0000479 False 1 50;0;50 6.257 False ENSG00000170445 ENSG00000170445 HGNC:4816 HKDC1 gene HKDC1 Expert Review Red;Expert list Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Retinitis pigmentosa 92, MIM# 619614" Abnormal retinal morphology;HP:0000479 30085091 False 1 0;0;100 6.257 True ENSG00000156510 ENSG00000156510 HGNC:23302 HMCN1 gene HMCN1 Expert Review Red;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Macular Degeneration Abnormal retinal morphology;HP:0000479 False 1 0;0;100 6.257 True ENSG00000143341 ENSG00000143341 HGNC:19194 ITM2B gene ITM2B Expert Review Red;Expert list Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities MIM#616079 Abnormal retinal morphology;HP:0000479 24026677 False 1 0;0;100 6.257 True ENSG00000136156 ENSG00000136156 HGNC:6174 MIEF1 gene MIEF1 Expert Review Red;Literature Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Optic atrophy 14 (MIM#620550) Abnormal retinal morphology;HP:0000479 33632269 False 1 0;100;0 6.257 True ENSG00000100335 ENSG00000100335 HGNC:25979 MTPAP gene MTPAP Expert Review Red;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 4, autosomal recessive 613672 Abnormal retinal morphology;HP:0000479 20970105 False 1 0;0;100 6.257 True ENSG00000107951 ENSG00000107951 HGNC:25532 NDUFA7 gene NDUFA7 Expert Review Red;Other Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Optic atrophy, MONDO:0003608, NDUFA7-related Abnormal retinal morphology;HP:0000479 False 1 0;50;50 6.257 True ENSG00000267855 ENSG00000267855 HGNC:7691 PBX1 gene PBX1 Expert Review Red;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay Abnormal retinal morphology;HP:0000479 29036646 False 1 0;0;100 6.257 True ENSG00000185630 ENSG00000185630 HGNC:8632 PDE6H gene PDE6H Expert Review Red;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinal Cone Dystrophy 3, 610024 Abnormal retinal morphology;HP:0000479 30679166;15629837;22901948 False 1 0;0;100 6.257 True ENSG00000139053 ENSG00000139053 HGNC:8790 PISD gene PISD Expert list;Expert Review Green;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Liberfarb syndrome MIM#618889" Abnormal retinal morphology;HP:0000479 31263216 False 1 50;0;50 6.257 False ENSG00000241878 ENSG00000241878 HGNC:8999 PITPNM3 gene PITPNM3 Expert Review Red;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cone-rod dystrophy 5, 600977 Abnormal retinal morphology;HP:0000479 17377520;22405330 False 1 0;0;100 6.257 True ENSG00000091622 ENSG00000091622 HGNC:21043 PITPNM3 gene PITPNM3 Expert Review Red;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cone-rod dystrophy 5, 600977 Abnormal retinal morphology;HP:0000479 22405330;17377520 False 1 0;0;100 6.257 False ENSG00000091622 ENSG00000091622 HGNC:21043 PITPNM3 gene PITPNM3 Expert Review Red;Royal Melbourne Hospital;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cone-rod dystrophy 5, 600977 Abnormal retinal morphology;HP:0000479 30679166;17377520;22405330 False 1 0;0;100 6.257 False ENSG00000091622 ENSG00000091622 HGNC:21043 PMPCA gene PMPCA Expert Review Red;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 2 Abnormal retinal morphology;HP:0000479 False 1 0;0;100 6.257 False ENSG00000165688 ENSG00000165688 HGNC:18667 PRKCG gene PRKCG Expert list Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinitis pigmentosa 11 MIM#600138 Abnormal retinal morphology;HP:0000479 9545390;16828200 False 1 0;0;100 6.257 False ENSG00000126583 ENSG00000126583 HGNC:9402 RGR gene RGR Expert Review Red;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinitis pigmentosa 44, 613769 Abnormal retinal morphology;HP:0000479 10581022;30347075;27748892;27623334 False 1 0;0;100 6.257 True ENSG00000148604 ENSG00000148604 HGNC:9990 RIMS1 gene RIMS1 Expert Review Red;Royal Melbourne Hospital;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cone-rod dystrophy 7, 603649 Abnormal retinal morphology;HP:0000479 30679166 False 1 0;0;100 6.257 True ENSG00000079841 ENSG00000079841 HGNC:17282 RP9 gene RP9 Expert Review Red;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Retinitis pigmentosa 9, 180104 Abnormal retinal morphology;HP:0000479 16799052;16671097 False 1 0;0;100 6.257 True ENSG00000164610 ENSG00000164610 HGNC:10288 SAG gene SAG Expert Review Red;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinitis pigmentosa 47, MIM# 613758 Abnormal retinal morphology;HP:0000479 28549094;33047631 False 1 0;50;50 6.257 True ENSG00000130561 ENSG00000130561 HGNC:10521 SAMD11 gene SAMD11 Expert Review Red;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Autosomal recessive retinitis pigmentosa Abnormal retinal morphology;HP:0000479 27734943 False 1 0;0;100 6.257 False ENSG00000187634 ENSG00000187634 HGNC:28706 SCAPER gene SCAPER Expert Review Red;Expert list;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder and retinitis pigmentosa MIM#618195 Abnormal retinal morphology;HP:0000479 28794130;31069901;31192531;30723319;30561111 False 1 0;0;100 6.257 True ENSG00000140386 ENSG00000140386 HGNC:13081 SCLT1 gene SCLT1 Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Nonsyndromic retinitis pigmentosa Abnormal retinal morphology;HP:0000479 30425282 False 1 0;0;100 6.257 False ENSG00000151466 ENSG00000151466 HGNC:26406 SEMA4A gene SEMA4A Expert Review Red;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cone-rod dystrophy 10, 610283;Retinitis pigmentosa 35, 610282 Abnormal retinal morphology;HP:0000479 16199541;28805479;23360997;15277503 False 1 0;0;100 6.257 True ENSG00000196189 ENSG00000196189 HGNC:10729 SLC24A1 gene SLC24A1 Expert Review Red;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Night blindness, congenital stationary (complete), 1D, autosomal recessive;613830 Abnormal retinal morphology;HP:0000479 26822852;20850105 False 1 0;100;0 6.257 True ENSG00000074621 ENSG00000074621 HGNC:10975 SLC39A12 gene SLC39A12 Expert Review Red;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa, MONDO:0019200, SLC39A12-related Abnormal retinal morphology;HP:0000479 PMID: 35486108 False 1 0;0;100 6.257 True ENSG00000148482 ENSG00000148482 HGNC:20860 SLC7A14 gene SLC7A14 Expert Review Red;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 68, 615725 (3) Abnormal retinal morphology;HP:0000479 27028480;24670872 False 1 0;0;100 6.257 True ENSG00000013293 ENSG00000013293 HGNC:29326 SPP2 gene SPP2 Expert Review Red;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autosomal dominant retinitis pigmentosa Abnormal retinal morphology;HP:0000479 26459573 False 1 0;0;100 6.257 False ENSG00000072080 ENSG00000072080 HGNC:11256 TRIM32 gene TRIM32 Expert Review Red;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 11, MIM# 615988 Abnormal retinal morphology;HP:0000479 16606853 False 1 0;0;100 6.257 True ENSG00000119401 ENSG00000119401 HGNC:16380 UBA5 gene UBA5 Expert Review Red;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 44 (MIM#617132) Abnormal retinal morphology;HP:0000479 28965491;27545674;27545681 False 1 0;0;100 6.257 True ENSG00000081307 ENSG00000081307 HGNC:23230 VSX2 gene VSX2 Expert Review Red;Expert list Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal smooth irides;lens subluxation;cone-rod dysfunction;high myopia Abnormal retinal morphology;HP:0000479 24001013 False 1 0;0;100 6.257 True ENSG00000119614 ENSG00000119614 HGNC:1975 WDPCP gene WDPCP Expert Review Red;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 15, MIM# 615992 Abnormal retinal morphology;HP:0000479 20671153;25427950 False 1 0;0;100 6.257 True ENSG00000143951 ENSG00000143951 HGNC:28027 WDR34 gene WDR34 Expert Review Red;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa Abnormal retinal morphology;HP:0000479 33124039 False 1 0;0;100 6.257 True ENSG00000119333 ENSG00000119333 HGNC:28296 YME1L1 gene YME1L1 Expert Review Red;Expert list Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Optic atrophy 11 MIM#617302 Abnormal retinal morphology;HP:0000479 27495975 False 1 0;0;100 6.257 True ENSG00000136758 ENSG00000136758 HGNC:12843 ZNF423 gene ZNF423 Expert Review Red;RetNet;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Joubert syndrome 19 (MIM#614844) Abnormal retinal morphology;HP:0000479 22863007;33531950 False 1 0;33;67 6.257 True ENSG00000102935 ENSG00000102935 HGNC:16762