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 ADIPOR1 gene ADIPOR1 Expert Review Amber;Royal Melbourne Hospital;Expert Review Amber;Royal Melbourne Hospital Retinitis Pigmentosa Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal syndromic retinitis pigmentosa;non-syndromic autosomal dominant retinitis pigmentosa Abnormal retinal morphology;HP:0000479 26662040;25736573;30254279;27655171 False 2 0;100;0 0.214 False ENSG00000159346 ENSG00000159346 HGNC:24040 ADIPOR1 gene ADIPOR1 Expert Review Amber;Royal Melbourne Hospital Retinitis Pigmentosa Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal syndromic retinitis pigmentosa;non-syndromic autosomal dominant retinitis pigmentosa Abnormal retinal morphology;HP:0000479 26662040;25736573;30254279;27655171 False 2 0;100;0 0.214 True ENSG00000159346 ENSG00000159346 HGNC:24040 AHR gene AHR Expert Review Amber;Royal Melbourne Hospital Retinitis Pigmentosa Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal ?Retinitis pigmentosa 85 Abnormal retinal morphology;HP:0000479 29726989 False 2 0;100;0 0.214 True ENSG00000106546 ENSG00000106546 HGNC:348 ARL3 gene ARL3 Expert Review Amber;Royal Melbourne Hospital Retinitis Pigmentosa Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinitis pigmentosa 83;Joubert syndrome 35 Abnormal retinal morphology;HP:0000479 26936825;16565502;26964041;26814127;30932721;30269812 False 2 0;100;0 0.214 False ENSG00000138175 ENSG00000138175 HGNC:694 ARL6 gene ARL6 Expert Review Amber;Royal Melbourne Hospital Retinitis Pigmentosa Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 55, 613575;Bardet-Biedl syndrome 3, 209900 Abnormal retinal morphology;HP:0000479 False 2 0;100;0 0.214 False ENSG00000113966 ENSG00000113966 HGNC:13210 CEP162 gene CEP162 Expert Review Amber;Literature Retinitis Pigmentosa Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa MONDO:0019200, CEP162-related Abnormal retinal morphology;HP:0000479 36862503 False 2 0;100;0 0.214 True ENSG00000135315 ENSG00000135315 HGNC:21107 CLCC1 gene CLCC1 Expert Review Amber;Royal Melbourne Hospital Retinitis Pigmentosa Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 32, MIM# 609913 Abnormal retinal morphology;HP:0000479 30157172 False 2 0;100;0 0.214 True ENSG00000121940 ENSG00000121940 HGNC:29675 CRB2 gene CRB2 Expert Review Amber;Expert Review Retinitis Pigmentosa Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa Abnormal retinal morphology;HP:0000479 30593785;31438467;33575434;30239717 False 2 0;100;0 0.214 True ENSG00000148204 ENSG00000148204 HGNC:18688 DHX38 gene DHX38 Expert Review Amber;Royal Melbourne Hospital Retinitis Pigmentosa Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 84, MIM#618220 Abnormal retinal morphology;HP:0000479 24737827;30208423 False 2 0;100;0 0.214 True ENSG00000140829 ENSG00000140829 HGNC:17211 EMC1 gene EMC1 Royal Melbourne Hospital;Expert Review Amber Retinitis Pigmentosa Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal ?Retinitis pigmentosa;Cerebellar atrophy, visual impairment, and psychomotor retardation Abnormal retinal morphology;HP:0000479 29271071;23105016 False 2 0;100;0 0.214 False ENSG00000127463 ENSG00000127463 HGNC:28957 GDF6 gene GDF6 Expert Review Amber;Expert list Retinitis Pigmentosa Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 17 MIM#615360 Abnormal retinal morphology;HP:0000479 23307924 False 2 0;100;0 0.214 True ENSG00000156466 ENSG00000156466 HGNC:4221 GUCA1B gene GUCA1B Expert Review Amber;Royal Melbourne Hospital Retinitis Pigmentosa Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinitis pigmentosa 48, MIM#613827 Abnormal retinal morphology;HP:0000479 15452722;26161267 False 2 0;100;0 0.214 True ENSG00000112599 ENSG00000112599 HGNC:4679 IMPG1 gene IMPG1 Expert Review Amber;Literature Retinitis Pigmentosa Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Retinitis pigmentosa, MONDO:0019200;Retinitis pigmentosa 91, MIM# 153870" Abnormal retinal morphology;HP:0000479 32817297 False 2 0;100;0 0.214 True ENSG00000112706 ENSG00000112706 HGNC:6055 MVK gene MVK Expert Review Amber;Royal Melbourne Hospital Retinitis Pigmentosa Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Mevalonic aciduria;Hyper-IgD syndrome Abnormal retinal morphology;HP:0000479 False 2 0;100;0 0.214 False ENSG00000110921 ENSG00000110921 HGNC:7530 NEK2 gene NEK2 Royal Melbourne Hospital;Expert Review Amber Retinitis Pigmentosa Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal ?Retinitis pigmentosa 67, 615565 Abnormal retinal morphology;HP:0000479 24043777 False 2 0;100;0 0.214 False ENSG00000117650 ENSG00000117650 HGNC:7745 PDE6G gene PDE6G Expert Review Amber;Royal Melbourne Hospital Retinitis Pigmentosa Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 57, MIM#613582 Abnormal retinal morphology;HP:0000479 20655036 False 2 0;100;0 0.214 True ENSG00000185527 ENSG00000185527 HGNC:8789 PRPF6 gene PRPF6 Expert Review Amber;Royal Melbourne Hospital Retinitis Pigmentosa Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinitis pigmentosa 60, MIM# 613983 Abnormal retinal morphology;HP:0000479 21549338;32335390 False 2 0;100;0 0.214 True ENSG00000101161 ENSG00000101161 HGNC:15860 SAG gene SAG Expert Review Amber;Royal Melbourne Hospital Retinitis Pigmentosa Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 47, MIM# 613758 Abnormal retinal morphology;HP:0000479 28549094;33047631 False 2 0;100;0 0.214 True ENSG00000130561 ENSG00000130561 HGNC:10521 SEMA4A gene SEMA4A Expert Review Amber;Royal Melbourne Hospital Retinitis Pigmentosa Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 10, 610283;Retinitis pigmentosa 35, 610282 Abnormal retinal morphology;HP:0000479 16199541;28805479;23360997;15277503 False 2 0;100;0 0.214 True ENSG00000196189 ENSG00000196189 HGNC:10729 SLC4A7 gene SLC4A7 Expert Review Amber;Literature Retinitis Pigmentosa Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa, MONDO:0019200, SLC4A7-related Abnormal retinal morphology;HP:0000479 PMID: 35486108, 32594822 False 2 0;100;0 0.214 True ENSG00000033867 ENSG00000033867 HGNC:11033 VWA8 gene VWA8 Expert Review Amber;Literature Retinitis Pigmentosa Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinitis pigmentosa 97, MIM#620422 Abnormal retinal morphology;HP:0000479 PMID: 37012052 False 2 0;100;0 0.214 True ENSG00000102763 ENSG00000102763 HGNC:29071 ZNF513 gene ZNF513 Expert Review Amber;Royal Melbourne Hospital Retinitis Pigmentosa Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 58, 613617 Abnormal retinal morphology;HP:0000479 False 2 0;100;0 0.214 False ENSG00000163795 ENSG00000163795 HGNC:26498