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 ABCA4 gene ABCA4 Expert Review Green;Royal Melbourne Hospital Cone-rod Dystrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 3, 604116 30679166 False 3 100;0;0 0.54 False ENSG00000198691 ENSG00000198691 HGNC:34 ADAM9 gene ADAM9 Expert Review Green;Royal Melbourne Hospital Cone-rod Dystrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 9, 612775 30679166 False 3 0;0;0 0.54 False ENSG00000168615 ENSG00000168615 HGNC:216 AIPL1 gene AIPL1 Expert Review Green;Royal Melbourne Hospital Cone-rod Dystrophy Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Leber congenital amaurosis 4, 604393;Cone-rod dystrophy, 604393;Retinitis pigmentosa, juvenile, 604393 30679166 False 3 0;0;0 0.54 False ENSG00000129221 ENSG00000129221 HGNC:359 C21orf2 gene C21orf2 Expert Review Green;Royal Melbourne Hospital Cone-rod Dystrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinal dystrophy with macular staphyloma, 617547 30679166;26294103;23105016;27548899 False 3 100;0;0 0.54 True ENSG00000160226 ENSG00000160226 HGNC:1260 C8orf37 gene C8orf37 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Cone-rod Dystrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 16, 614500;Retinitis pigmentosa 64, 614500 30679166 False 3 100;0;0 0.54 False ENSG00000156172 ENSG00000156172 HGNC:27232 CACNA1F gene CACNA1F Expert Review Green;Royal Melbourne Hospital Cone-rod Dystrophy Ophthalmological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Cone-rod dystropy, X-linked, 3, 300476 30679166 False 3 0;0;0 0.54 False ENSG00000102001 ENSG00000102001 HGNC:1393 CACNA2D4 gene CACNA2D4 Expert Review Green;Royal Melbourne Hospital Cone-rod Dystrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinal cone dystrophy 4, 610478 30679166 False 3 0;0;0 0.54 False ENSG00000151062 ENSG00000151062 HGNC:20202 CDHR1 gene CDHR1 Expert Review Green;Royal Melbourne Hospital Cone-rod Dystrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 15, 613660 30679166 False 3 0;0;0 0.54 False ENSG00000148600 ENSG00000148600 HGNC:14550 CERKL gene CERKL Expert Review Green;Royal Melbourne Hospital Cone-rod Dystrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 30679166 False 3 0;0;0 0.54 False ENSG00000188452 ENSG00000188452 HGNC:21699 CNGA3 gene CNGA3 Expert Review Green;Royal Melbourne Hospital Cone-rod Dystrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Achromatopsia 2MIM#216900 30679166 False 3 0;0;0 0.54 False ENSG00000144191 ENSG00000144191 HGNC:2150 CNGB3 gene CNGB3 Expert Review Green;Royal Melbourne Hospital Cone-rod Dystrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Achromatopsia-3, 262300 30679166 False 3 0;0;0 0.54 False ENSG00000170289 ENSG00000170289 HGNC:2153 CRX gene CRX Expert Review Green;Royal Melbourne Hospital Cone-rod Dystrophy Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cone-rod retinal dystrophy-2, 120970 30679166 False 3 0;0;0 0.54 False ENSG00000105392 ENSG00000105392 HGNC:2383 FAM57B gene FAM57B Expert Review;Expert Review Green Cone-rod Dystrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 22, MIM# 619531;Maculopathy 33077892 False 3 100;0;0 0.54 True ENSG00000149926 ENSG00000149926 HGNC:25295 GUCA1A gene GUCA1A Expert Review Green;Royal Melbourne Hospital Cone-rod Dystrophy Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cone dystrophy-3, MIM# 602093;Cone-rod dystrophy 14, MIM# 602093 30679166;9425234;15953638;11146732;28125083 False 3 100;0;0 0.54 True ENSG00000048545 ENSG00000048545 HGNC:4678 GUCY2D gene GUCY2D Expert Review Green;Royal Melbourne Hospital Cone-rod Dystrophy Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cone-rod dystrophy 6 MIM#601777 30679166 False 3 0;0;0 0.54 False ENSG00000132518 ENSG00000132518 HGNC:4689 KCNV2 gene KCNV2 Expert Review Green;Royal Melbourne Hospital Cone-rod Dystrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinal cone dystrophy 3B MIM#610356 30679166;16909397;18235024;21882291;23221069;31960170;34535971;34652420 False 3 100;0;0 0.54 True ENSG00000168263 ENSG00000168263 HGNC:19698 OPN1SW gene OPN1SW Expert list;Expert Review Green Cone-rod Dystrophy Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Colorblindness, tritan MIM#190900 22065927;1531728 False 3 100;0;0 0.54 True ENSG00000128617 ENSG00000128617 HGNC:1012 PDE6C gene PDE6C Expert Review Green;Royal Melbourne Hospital Cone-rod Dystrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cone dystrophy 4 MIM#613093 30679166 False 3 0;0;0 0.54 False ENSG00000095464 ENSG00000095464 HGNC:8787 POC1B gene POC1B Expert Review Green;Royal Melbourne Hospital Cone-rod Dystrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 20, 615973 30679166 False 3 0;0;0 0.54 False ENSG00000139323 ENSG00000139323 HGNC:30836 PROM1 gene PROM1 Expert Review Green;Royal Melbourne Hospital Cone-rod Dystrophy Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cone-rod dystrophy 12, 612657 30679166 False 3 0;0;0 0.54 False ENSG00000007062 ENSG00000007062 HGNC:9454 PRPH2 gene PRPH2 Expert Review Green;Royal Melbourne Hospital Cone-rod Dystrophy Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Choroidal dystrophy, central areolar 2 MIM#613105 30679166 False 3 0;0;0 0.54 False ENSG00000112619 ENSG00000112619 HGNC:9942 RAB28 gene RAB28 Expert Review Green;Royal Melbourne Hospital Cone-rod Dystrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 18, 615374 30679166;25356532;33396523;32084271;23746546 False 3 100;0;0 0.54 True ENSG00000157869 ENSG00000157869 HGNC:9768 RAX2 gene RAX2 Expert Review Green;Royal Melbourne Hospital Cone-rod Dystrophy Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cone-rod dystrophy 11, MIM# 610381 30679166;15028672;25789692 False 3 100;0;0 0.54 True ENSG00000173976 ENSG00000173976 HGNC:18286 RPGR gene RPGR Expert Review Green;Royal Melbourne Hospital Cone-rod Dystrophy Ophthalmological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Cone-rod dystrophy, X-linked, 1, 304020 30679166 False 3 0;0;0 0.54 False ENSG00000156313 ENSG00000156313 HGNC:10295 RPGRIP1 gene RPGRIP1 Expert Review Green;Royal Melbourne Hospital Cone-rod Dystrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 13, 608194 30679166 False 3 0;0;0 0.54 False ENSG00000092200 ENSG00000092200 HGNC:13436 TTLL5 gene TTLL5 Expert Review Green;Royal Melbourne Hospital Cone-rod Dystrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 19,615860 30679166 False 3 100;0;0 0.54 False ENSG00000119685 ENSG00000119685 HGNC:19963 UBAP1L gene UBAP1L Expert Review Green;Literature Cone-rod Dystrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy (MONDO:0015993), UBAP1L-related PMID: 38293907;38420906 False 3 100;0;0 0.54 True ENSG00000246922 ENSG00000246922 HGNC:40028