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The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1345","MKS6","JBTS9"],"biotype":"protein_coding","hgnc_id":"HGNC:29253","gene_name":"coiled-coil and C2 domain containing 2A","omim_gene":["612013"],"alias_name":["Meckel syndrome, type 6"],"gene_symbol":"CC2D2A","hgnc_symbol":"CC2D2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:15471489-15603180","ensembl_id":"ENSG00000048342"}},"GRch38":{"90":{"location":"4:15469865-15601557","ensembl_id":"ENSG00000048342"}}},"hgnc_date_symbol_changed":"2007-10-19"},"entity_type":"gene","entity_name":"CC2D2A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22241855","27081510","30267408"],"evidence":["Expert Review Green","RetNet"],"phenotypes":["COACH syndrome, MIM#216360","Joubert syndrome 9, MIM#612285","Meckel syndrome 6, MIM#612284","Retinitis pigmentosa 93, MIM# 619845"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0328"],"biotype":"protein_coding","hgnc_id":"HGNC:428","gene_name":"ALMS1, centrosome and basal body associated protein","omim_gene":["606844"],"alias_name":null,"gene_symbol":"ALMS1","hgnc_symbol":"ALMS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:73612886-73837920","ensembl_id":"ENSG00000116127"}},"GRch38":{"90":{"location":"2:73385758-73610793","ensembl_id":"ENSG00000116127"}}},"hgnc_date_symbol_changed":"1998-10-12"},"entity_type":"gene","entity_name":"ALMS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","RetNet","Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Alstrom syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ20069","ORF1","JBTS3"],"biotype":"protein_coding","hgnc_id":"HGNC:21575","gene_name":"Abelson helper integration site 1","omim_gene":["608894"],"alias_name":["Jouberin"],"gene_symbol":"AHI1","hgnc_symbol":"AHI1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:135604670-135818914","ensembl_id":"ENSG00000135541"}},"GRch38":{"90":{"location":"6:135283532-135497776","ensembl_id":"ENSG00000135541"}}},"hgnc_date_symbol_changed":"2003-08-22"},"entity_type":"gene","entity_name":"AHI1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15322546","15467982","16155189","25616960"],"evidence":["Expert Review Green","RetNet","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Joubert syndrome 3, MIM# 608629"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PAQR1","ACDCR1"],"biotype":"protein_coding","hgnc_id":"HGNC:24040","gene_name":"adiponectin receptor 1","omim_gene":["607945"],"alias_name":null,"gene_symbol":"ADIPOR1","hgnc_symbol":"ADIPOR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:202909951-202927700","ensembl_id":"ENSG00000159346"}},"GRch38":{"90":{"location":"1:202940823-202958572","ensembl_id":"ENSG00000159346"}}},"hgnc_date_symbol_changed":"2004-06-23"},"entity_type":"gene","entity_name":"ADIPOR1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["27655171","26662040"],"evidence":["Expert Review Amber","Expert Review Amber","RetNet","Royal Melbourne Hospital"],"phenotypes":["syndromic retinitis pigmentosa","non-syndromic autosomal dominant retinitis pigmentosa"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:17110","gene_name":"ADAM metallopeptidase with thrombospondin type 1 motif 18","omim_gene":["607512"],"alias_name":null,"gene_symbol":"ADAMTS18","hgnc_symbol":"ADAMTS18","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:77281710-77469011","ensembl_id":"ENSG00000140873"}},"GRch38":{"90":{"location":"16:77247813-77435114","ensembl_id":"ENSG00000140873"}}},"hgnc_date_symbol_changed":"2002-02-13"},"entity_type":"gene","entity_name":"ADAMTS18","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","RetNet"],"phenotypes":["microcornea-myopic chorioretinal atrophy (MONDO:0014195)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZp434A2417","KIAA1996"],"biotype":"protein_coding","hgnc_id":"HGNC:23338","gene_name":"acyl-CoA binding domain containing 5","omim_gene":["616618"],"alias_name":null,"gene_symbol":"ACBD5","hgnc_symbol":"ACBD5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:27484146-27531059","ensembl_id":"ENSG00000107897"}},"GRch38":{"90":{"location":"10:27195214-27242130","ensembl_id":"ENSG00000107897"}}},"hgnc_date_symbol_changed":"2003-11-11"},"entity_type":"gene","entity_name":"ACBD5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23105016","27799409","33427402"],"evidence":["Expert Review Green","RetNet","Expert list"],"phenotypes":["Retinal dystrophy with leukodystrophy (MIM#618863)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZP434P106","dJ965G21.2","BEM46L2","ABHD12A"],"biotype":"protein_coding","hgnc_id":"HGNC:15868","gene_name":"abhydrolase domain containing 12","omim_gene":["613599"],"alias_name":null,"gene_symbol":"ABHD12","hgnc_symbol":"ABHD12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:25275379-25371619","ensembl_id":"ENSG00000100997"}},"GRch38":{"90":{"location":"20:25294743-25390983","ensembl_id":"ENSG00000100997"}}},"hgnc_date_symbol_changed":"2006-03-10"},"entity_type":"gene","entity_name":"ABHD12","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20797687","24697911"],"evidence":["Expert Review Green","Expert list","RetNet","Victorian Clinical Genetics Services"],"phenotypes":["Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, MIM# 612674"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PG-M"],"biotype":"protein_coding","hgnc_id":"HGNC:2464","gene_name":"versican","omim_gene":["118661"],"alias_name":["versican proteoglycan"],"gene_symbol":"VCAN","hgnc_symbol":"VCAN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:82767284-82878122","ensembl_id":"ENSG00000038427"}},"GRch38":{"90":{"location":"5:83471465-83582303","ensembl_id":"ENSG00000038427"}}},"hgnc_date_symbol_changed":"2007-02-15"},"entity_type":"gene","entity_name":"VCAN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","RetNet","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Wagner Syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DRN3"],"biotype":"protein_coding","hgnc_id":"HGNC:12269","gene_name":"three prime repair exonuclease 1","omim_gene":["606609"],"alias_name":null,"gene_symbol":"TREX1","hgnc_symbol":"TREX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:48506445-48509044","ensembl_id":"ENSG00000213689"}},"GRch38":{"90":{"location":"3:48465811-48467645","ensembl_id":"ENSG00000213689"}}},"hgnc_date_symbol_changed":"2000-05-17"},"entity_type":"gene","entity_name":"TREX1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17660820"],"evidence":["Expert Review Green","RetNet"],"phenotypes":["Vasculopathy, retinal, with cerebral leukodystrophy, MIM# 192315"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8616","gene_name":"paired box 2","omim_gene":["167409"],"alias_name":null,"gene_symbol":"PAX2","hgnc_symbol":"PAX2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:102495360-102589698","ensembl_id":"ENSG00000075891"}},"GRch38":{"90":{"location":"10:100735603-100829941","ensembl_id":"ENSG00000075891"}}},"hgnc_date_symbol_changed":"1993-06-07"},"entity_type":"gene","entity_name":"PAX2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","RetNet"],"phenotypes":["Papillorenal syndrome, MIM# 120330"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ22187","MGA3"],"biotype":"protein_coding","hgnc_id":"HGNC:8142","gene_name":"OPA3, outer mitochondrial membrane lipid metabolism regulator","omim_gene":["606580"],"alias_name":null,"gene_symbol":"OPA3","hgnc_symbol":"OPA3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:46030685-46105470","ensembl_id":"ENSG00000125741"}},"GRch38":{"90":{"location":"19:45527427-45602212","ensembl_id":"ENSG00000125741"}}},"hgnc_date_symbol_changed":"1999-03-12"},"entity_type":"gene","entity_name":"OPA3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","RetNet","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Autosomal Dominant Optic Atrophy"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CPRP1","KIAA0214","MARF","CMT2A2"],"biotype":"protein_coding","hgnc_id":"HGNC:16877","gene_name":"mitofusin 2","omim_gene":["608507"],"alias_name":null,"gene_symbol":"MFN2","hgnc_symbol":"MFN2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:12040238-12073571","ensembl_id":"ENSG00000116688"}},"GRch38":{"90":{"location":"1:11980181-12013514","ensembl_id":"ENSG00000116688"}}},"hgnc_date_symbol_changed":"2003-02-25"},"entity_type":"gene","entity_name":"MFN2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["30922813","28487236","21707411","22957060"],"evidence":["Expert Review Amber","RetNet"],"phenotypes":["Charcot-Marie-Tooth disease, axonal, type 2A2A, MIM# 609260","Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 617087"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Eg5","HKSP","TRIP5"],"biotype":"protein_coding","hgnc_id":"HGNC:6388","gene_name":"kinesin family member 11","omim_gene":["148760"],"alias_name":null,"gene_symbol":"KIF11","hgnc_symbol":"KIF11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:94353043-94415150","ensembl_id":"ENSG00000138160"}},"GRch38":{"90":{"location":"10:92593286-92655395","ensembl_id":"ENSG00000138160"}}},"hgnc_date_symbol_changed":"2003-01-10"},"entity_type":"gene","entity_name":"KIF11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22284827","25115524","25124931","27212378","32730767","31993640","25996076"],"evidence":["Expert Review Green","RetNet"],"phenotypes":["Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950","MONDO:0007918"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["AHD","AWS","HJ1","CD339"],"biotype":"protein_coding","hgnc_id":"HGNC:6188","gene_name":"jagged 1","omim_gene":["601920"],"alias_name":null,"gene_symbol":"JAG1","hgnc_symbol":"JAG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:10618332-10654694","ensembl_id":"ENSG00000101384"}},"GRch38":{"90":{"location":"20:10637684-10674107","ensembl_id":"ENSG00000101384"}}},"hgnc_date_symbol_changed":"1997-05-22"},"entity_type":"gene","entity_name":"JAG1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Literature","RetNet","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["STL1"],"biotype":"protein_coding","hgnc_id":"HGNC:2200","gene_name":"collagen type II alpha 1 chain","omim_gene":["120140"],"alias_name":null,"gene_symbol":"COL2A1","hgnc_symbol":"COL2A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:48366748-48398269","ensembl_id":"ENSG00000139219"}},"GRch38":{"90":{"location":"12:47972965-48004486","ensembl_id":"ENSG00000139219"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"COL2A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["RetNet","Expert Review Green"],"phenotypes":["Stickler syndrome, type I"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["STL2","CO11A1"],"biotype":"protein_coding","hgnc_id":"HGNC:2186","gene_name":"collagen type XI alpha 1 chain","omim_gene":["120280"],"alias_name":["collagen XI, alpha-1 polypeptide"],"gene_symbol":"COL11A1","hgnc_symbol":"COL11A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:103342023-103574052","ensembl_id":"ENSG00000060718"}},"GRch38":{"90":{"location":"1:102876467-103108496","ensembl_id":"ENSG00000060718"}}},"hgnc_date_symbol_changed":"1989-05-08"},"entity_type":"gene","entity_name":"COL11A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["RetNet","Expert Review Green"],"phenotypes":["Stickler syndrome, type II, MIM#604841"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["OPCA3","ADCAII"],"biotype":"protein_coding","hgnc_id":"HGNC:10560","gene_name":"ataxin 7","omim_gene":["607640"],"alias_name":null,"gene_symbol":"ATXN7","hgnc_symbol":"ATXN7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:63850233-63989138","ensembl_id":"ENSG00000163635"}},"GRch38":{"90":{"location":"3:63864557-64003462","ensembl_id":"ENSG00000163635"}}},"hgnc_date_symbol_changed":"2004-08-12"},"entity_type":"gene","entity_name":"ATXN7","confidence_level":"0","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Removed","Expert list","RetNet"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":["STR"],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SPAX5"],"biotype":"protein_coding","hgnc_id":"HGNC:315","gene_name":"AFG3 like matrix AAA peptidase subunit 2","omim_gene":["604581"],"alias_name":null,"gene_symbol":"AFG3L2","hgnc_symbol":"AFG3L2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:12328943-12377313","ensembl_id":"ENSG00000141385"}},"GRch38":{"90":{"location":"18:12328944-12377314","ensembl_id":"ENSG00000141385"}}},"hgnc_date_symbol_changed":"1999-07-13"},"entity_type":"gene","entity_name":"AFG3L2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["29181157","26539208","30252181","30389403","32219868","32600459","32548275"],"evidence":["Expert Review Red","Expert list","RetNet","Victorian Clinical Genetics Services"],"phenotypes":["Spastic ataxia 5, autosomal recessive (MIM#614487)","Spinocerebellar ataxia 28 (MIM#610246)","Optic atrophy 12, MIM# 618977"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MRP6","EST349056","MLP1","URG7"],"biotype":"protein_coding","hgnc_id":"HGNC:57","gene_name":"ATP binding cassette subfamily C member 6","omim_gene":["603234"],"alias_name":null,"gene_symbol":"ABCC6","hgnc_symbol":"ABCC6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:16242785-16317379","ensembl_id":"ENSG00000091262"}},"GRch38":{"90":{"location":"16:16148928-16223522","ensembl_id":"ENSG00000091262"}}},"hgnc_date_symbol_changed":"1997-10-27"},"entity_type":"gene","entity_name":"ABCC6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","RetNet"],"phenotypes":["Pseudoxanthoma elasticum, MIM#264800"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["SV/CNV"],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ32731","HGNAT"],"biotype":"protein_coding","hgnc_id":"HGNC:26527","gene_name":"heparan-alpha-glucosaminide N-acetyltransferase","omim_gene":["610453"],"alias_name":null,"gene_symbol":"HGSNAT","hgnc_symbol":"HGSNAT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:42995556-43057998","ensembl_id":"ENSG00000165102"}},"GRch38":{"90":{"location":"8:43140455-43202855","ensembl_id":"ENSG00000165102"}}},"hgnc_date_symbol_changed":"2006-08-16"},"entity_type":"gene","entity_name":"HGSNAT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","RetNet","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Retinitis pigmentosa 73"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["H6","NKX5-3"],"biotype":"protein_coding","hgnc_id":"HGNC:5017","gene_name":"H6 family homeobox 1","omim_gene":["142992"],"alias_name":null,"gene_symbol":"HMX1","hgnc_symbol":"HMX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:8847802-8873543","ensembl_id":"ENSG00000215612"}},"GRch38":{"90":{"location":"4:8846076-8871817","ensembl_id":"ENSG00000215612"}}},"hgnc_date_symbol_changed":"1994-12-19"},"entity_type":"gene","entity_name":"HMX1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18423520","25574057","33465110","32552830","31691317"],"evidence":["Expert Review Green","RetNet"],"phenotypes":["Oculoauricular syndrome, MIM#612109"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["gs114","KIAA0590"],"biotype":"protein_coding","hgnc_id":"HGNC:29077","gene_name":"intraflagellar transport 140","omim_gene":["614620"],"alias_name":null,"gene_symbol":"IFT140","hgnc_symbol":"IFT140","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:1560428-1662111","ensembl_id":"ENSG00000187535"}},"GRch38":{"90":{"location":"16:1510427-1612110","ensembl_id":"ENSG00000187535"}}},"hgnc_date_symbol_changed":"2005-11-02"},"entity_type":"gene","entity_name":"IFT140","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","RetNet","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Retinitis pigmentosa 80"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. 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The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PPI5PIV","CORS1","pharbin"],"biotype":"protein_coding","hgnc_id":"HGNC:21474","gene_name":"inositol polyphosphate-5-phosphatase E","omim_gene":["613037"],"alias_name":null,"gene_symbol":"INPP5E","hgnc_symbol":"INPP5E","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:139323071-139334274","ensembl_id":"ENSG00000148384"}},"GRch38":{"90":{"location":"9:136428619-136439823","ensembl_id":"ENSG00000148384"}}},"hgnc_date_symbol_changed":"2003-06-13"},"entity_type":"gene","entity_name":"INPP5E","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","RetNet","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. 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The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0036","NPHP5","SLSN5"],"biotype":"protein_coding","hgnc_id":"HGNC:28949","gene_name":"IQ motif containing B1","omim_gene":["609237"],"alias_name":["nephrocystin-5"],"gene_symbol":"IQCB1","hgnc_symbol":"IQCB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:121488610-121553926","ensembl_id":"ENSG00000173226"}},"GRch38":{"90":{"location":"3:121769763-121835079","ensembl_id":"ENSG00000173226"}}},"hgnc_date_symbol_changed":"2004-03-05"},"entity_type":"gene","entity_name":"IQCB1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15723066","21220633","20881296","21901789","33512896","33535056","29219953"],"evidence":["Expert Review Green","RetNet"],"phenotypes":["Leber congenital amaurosis","Senior-Loken syndrome 5, MIM# 609254","MONDO:0012225"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6481","gene_name":"laminin subunit alpha 1","omim_gene":["150320"],"alias_name":null,"gene_symbol":"LAMA1","hgnc_symbol":"LAMA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:6941743-7117813","ensembl_id":"ENSG00000101680"}},"GRch38":{"90":{"location":"18:6941744-7117814","ensembl_id":"ENSG00000101680"}}},"hgnc_date_symbol_changed":"1989-05-25"},"entity_type":"gene","entity_name":"LAMA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","RetNet"],"phenotypes":["Poretti-Boltshauser syndrome, MIM# 615960"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LR3","BMND1","HBM","OPS","OPTA1","VBCH2","EVR4"],"biotype":"protein_coding","hgnc_id":"HGNC:6697","gene_name":"LDL receptor related protein 5","omim_gene":["603506"],"alias_name":null,"gene_symbol":"LRP5","hgnc_symbol":"LRP5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:68080077-68216743","ensembl_id":"ENSG00000162337"}},"GRch38":{"90":{"location":"11:68312609-68449275","ensembl_id":"ENSG00000162337"}}},"hgnc_date_symbol_changed":"1998-04-07"},"entity_type":"gene","entity_name":"LRP5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["RetNet","Expert Review Green"],"phenotypes":["Exudative vitreoretinopathy 4"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ20345","POC12","BBS13"],"biotype":"protein_coding","hgnc_id":"HGNC:7121","gene_name":"Meckel syndrome, type 1","omim_gene":["609883"],"alias_name":["POC12 centriolar protein homolog (Chlamydomonas)"],"gene_symbol":"MKS1","hgnc_symbol":"MKS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:56282803-56296966","ensembl_id":"ENSG00000011143"}},"GRch38":{"90":{"location":"17:58205437-58219605","ensembl_id":"ENSG00000011143"}}},"hgnc_date_symbol_changed":"1995-11-07"},"entity_type":"gene","entity_name":"MKS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","RetNet","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ABL"],"biotype":"protein_coding","hgnc_id":"HGNC:7467","gene_name":"microsomal triglyceride transfer protein","omim_gene":["157147"],"alias_name":null,"gene_symbol":"MTTP","hgnc_symbol":"MTTP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:100484918-100545156","ensembl_id":"ENSG00000138823"}},"GRch38":{"90":{"location":"4:99563761-99623999","ensembl_id":"ENSG00000138823"}}},"hgnc_date_symbol_changed":"2005-11-04"},"entity_type":"gene","entity_name":"MTTP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","RetNet"],"phenotypes":["Abetalipoproteinemia, MIM# 200100"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["JBTS4","SLSN1"],"biotype":"protein_coding","hgnc_id":"HGNC:7905","gene_name":"nephrocystin 1","omim_gene":["607100"],"alias_name":null,"gene_symbol":"NPHP1","hgnc_symbol":"NPHP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:110879888-110962643","ensembl_id":"ENSG00000144061"}},"GRch38":{"90":{"location":"2:110122311-110205066","ensembl_id":"ENSG00000144061"}}},"hgnc_date_symbol_changed":"1991-08-08"},"entity_type":"gene","entity_name":"NPHP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","RetNet","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NPH3","KIAA2000","FLJ30691","FLJ36696","MKS7","SLSN3","CFAP31"],"biotype":"protein_coding","hgnc_id":"HGNC:7907","gene_name":"nephrocystin 3","omim_gene":["608002"],"alias_name":["Meckel syndrome, type 7","cilia and flagella associated protein 31"],"gene_symbol":"NPHP3","hgnc_symbol":"NPHP3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:132276986-132441303","ensembl_id":"ENSG00000113971"}},"GRch38":{"90":{"location":"3:132680609-132722442","ensembl_id":"ENSG00000113971"}}},"hgnc_date_symbol_changed":"2000-01-20"},"entity_type":"gene","entity_name":"NPHP3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","RetNet","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SLSN4","KIAA0673","POC10"],"biotype":"protein_coding","hgnc_id":"HGNC:19104","gene_name":"nephrocystin 4","omim_gene":["607215"],"alias_name":["nephroretinin","POC10 centriolar protein homolog (Chlamydomonas)"],"gene_symbol":"NPHP4","hgnc_symbol":"NPHP4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:5922871-6052533","ensembl_id":"ENSG00000131697"}},"GRch38":{"90":{"location":"1:5862811-5992473","ensembl_id":"ENSG00000131697"}}},"hgnc_date_symbol_changed":"2002-10-03"},"entity_type":"gene","entity_name":"NPHP4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","RetNet","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HSS","FLJ11729","PKAN","HARP"],"biotype":"protein_coding","hgnc_id":"HGNC:15894","gene_name":"pantothenate kinase 2","omim_gene":["606157"],"alias_name":["Hallervorden-Spatz syndrome"],"gene_symbol":"PANK2","hgnc_symbol":"PANK2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:3869486-3907605","ensembl_id":"ENSG00000125779"}},"GRch38":{"90":{"location":"20:3888839-3929882","ensembl_id":"ENSG00000125779"}}},"hgnc_date_symbol_changed":"2002-09-06"},"entity_type":"gene","entity_name":"PANK2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11479594","15911822","1734303"],"evidence":["Expert Review Green","RetNet"],"phenotypes":["pantothenate kinase-associated neurodegeneration MONDO:0009319"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CT","CTPCT"],"biotype":"protein_coding","hgnc_id":"HGNC:8754","gene_name":"phosphate cytidylyltransferase 1, choline, alpha","omim_gene":["123695"],"alias_name":["phosphate cytidylyltransferase 1, choline, alpha isoform"],"gene_symbol":"PCYT1A","hgnc_symbol":"PCYT1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:195941093-196014828","ensembl_id":"ENSG00000161217"}},"GRch38":{"90":{"location":"3:196214222-196287957","ensembl_id":"ENSG00000161217"}}},"hgnc_date_symbol_changed":"1999-05-05"},"entity_type":"gene","entity_name":"PCYT1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24387990","24387991"],"evidence":["Expert Review Green","RetNet"],"phenotypes":["Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8850","gene_name":"peroxisomal biogenesis factor 1","omim_gene":["602136"],"alias_name":null,"gene_symbol":"PEX1","hgnc_symbol":"PEX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:92116334-92157845","ensembl_id":"ENSG00000127980"}},"GRch38":{"90":{"location":"7:92487020-92528531","ensembl_id":"ENSG00000127980"}}},"hgnc_date_symbol_changed":"1998-01-08"},"entity_type":"gene","entity_name":"PEX1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["RetNet","Expert Review Green"],"phenotypes":["Heimler syndrome 1, 234580"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PMP35","PAF-1","RNF72","ZWS3"],"biotype":"protein_coding","hgnc_id":"HGNC:9717","gene_name":"peroxisomal biogenesis factor 2","omim_gene":["170993"],"alias_name":["Zellweger syndrome","peroxin 2"],"gene_symbol":"PEX2","hgnc_symbol":"PEX2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:77892494-77913280","ensembl_id":"ENSG00000164751"}},"GRch38":{"90":{"location":"8:76980258-77001044","ensembl_id":"ENSG00000164751"}}},"hgnc_date_symbol_changed":"2010-01-25"},"entity_type":"gene","entity_name":"PEX2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["RetNet","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PTS2R","RD"],"biotype":"protein_coding","hgnc_id":"HGNC:8860","gene_name":"peroxisomal biogenesis factor 7","omim_gene":["601757"],"alias_name":["Refsum disease"],"gene_symbol":"PEX7","hgnc_symbol":"PEX7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:137143717-137235075","ensembl_id":"ENSG00000112357"}},"GRch38":{"90":{"location":"6:136822564-136913937","ensembl_id":"ENSG00000112357"}}},"hgnc_date_symbol_changed":"1997-05-22"},"entity_type":"gene","entity_name":"PEX7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","RetNet","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Refsum disease"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PAHX","RD","PHYH1"],"biotype":"protein_coding","hgnc_id":"HGNC:8940","gene_name":"phytanoyl-CoA 2-hydroxylase","omim_gene":["602026"],"alias_name":["Refsum disease","phytanoyl-CoA dioxygenase"],"gene_symbol":"PHYH","hgnc_symbol":"PHYH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:13319796-13344412","ensembl_id":"ENSG00000107537"}},"GRch38":{"90":{"location":"10:13277796-13302412","ensembl_id":"ENSG00000107537"}}},"hgnc_date_symbol_changed":"1997-10-27"},"entity_type":"gene","entity_name":"PHYH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","RetNet","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Refsum disease"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Sak"],"biotype":"protein_coding","hgnc_id":"HGNC:11397","gene_name":"polo like kinase 4","omim_gene":["605031"],"alias_name":null,"gene_symbol":"PLK4","hgnc_symbol":"PLK4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:128802016-128820350","ensembl_id":"ENSG00000142731"}},"GRch38":{"90":{"location":"4:127880861-127899195","ensembl_id":"ENSG00000142731"}}},"hgnc_date_symbol_changed":"2004-01-28"},"entity_type":"gene","entity_name":"PLK4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25344692","25320347","27650967"],"evidence":["Expert Review Green","RetNet"],"phenotypes":["Microcephaly and chorioretinopathy, autosomal recessive, 2, MIM# 616171"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NTE","sws","iPLA2delta","SPG39"],"biotype":"protein_coding","hgnc_id":"HGNC:16268","gene_name":"patatin like phospholipase domain containing 6","omim_gene":["603197"],"alias_name":["neuropathy target esterase"],"gene_symbol":"PNPLA6","hgnc_symbol":"PNPLA6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:7598890-7626650","ensembl_id":"ENSG00000032444"}},"GRch38":{"90":{"location":"19:7534004-7561764","ensembl_id":"ENSG00000032444"}}},"hgnc_date_symbol_changed":"2006-07-05"},"entity_type":"gene","entity_name":"PNPLA6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24355708","25033069","25480986"],"evidence":["Expert Review Green","Expert list","RetNet","Expert list"],"phenotypes":["Retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome MONDO:0100155"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CAGH45","HOPA","OPA1","TRAP230","KIAA0192","OKS"],"biotype":"protein_coding","hgnc_id":"HGNC:11957","gene_name":"mediator complex subunit 12","omim_gene":["300188"],"alias_name":null,"gene_symbol":"MED12","hgnc_symbol":"MED12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:70338406-70362303","ensembl_id":"ENSG00000184634"}},"GRch38":{"90":{"location":"X:71118556-71142454","ensembl_id":"ENSG00000184634"}}},"hgnc_date_symbol_changed":"2004-11-26"},"entity_type":"gene","entity_name":"MED12","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 33244166"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Hardikar syndrome, MIM# 301068"],"mode_of_inheritance":"Other","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["PCDGF","PGRN","CLN11"],"biotype":"protein_coding","hgnc_id":"HGNC:4601","gene_name":"granulin precursor","omim_gene":["138945"],"alias_name":["progranulin"],"gene_symbol":"GRN","hgnc_symbol":"GRN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:42422614-42430470","ensembl_id":"ENSG00000030582"}},"GRch38":{"90":{"location":"17:44345086-44353102","ensembl_id":"ENSG00000030582"}}},"hgnc_date_symbol_changed":"1992-11-30"},"entity_type":"gene","entity_name":"GRN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31855245","28404863","30922528"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Ceroid lipofuscinosis, neuronal, 11, OMIM #614706"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4161","gene_name":"leucine rich repeat containing 32","omim_gene":["137207"],"alias_name":null,"gene_symbol":"LRRC32","hgnc_symbol":"LRRC32","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:76368568-76381791","ensembl_id":"ENSG00000137507"}},"GRch38":{"90":{"location":"11:76657524-76670747","ensembl_id":"ENSG00000137507"}}},"hgnc_date_symbol_changed":"2005-02-25"},"entity_type":"gene","entity_name":"LRRC32","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["30976112","41041957"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Cleft palate, proliferative retinopathy, and developmental delay (CPPRDD) syndrome, MIM# 619074"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ20561","HsT18960","nclf"],"biotype":"protein_coding","hgnc_id":"HGNC:2077","gene_name":"CLN6, transmembrane ER protein","omim_gene":["606725"],"alias_name":null,"gene_symbol":"CLN6","hgnc_symbol":"CLN6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:68499330-68549549","ensembl_id":"ENSG00000128973"}},"GRch38":{"90":{"location":"15:68206992-68257211","ensembl_id":"ENSG00000128973"}}},"hgnc_date_symbol_changed":"1996-10-11"},"entity_type":"gene","entity_name":"CLN6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review Green","Expert Review"],"phenotypes":["Ceroid lipofuscinosis, neuronal, 6 OMIM #601780"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["PGA1","APS1"],"biotype":"protein_coding","hgnc_id":"HGNC:360","gene_name":"autoimmune regulator","omim_gene":["607358"],"alias_name":["autoimmune polyendocrinopathy candidiasis ectodermal dystrophy"],"gene_symbol":"AIRE","hgnc_symbol":"AIRE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:45705721-45718531","ensembl_id":"ENSG00000160224"}},"GRch38":{"90":{"location":"21:44285838-44298648","ensembl_id":"ENSG00000160224"}}},"hgnc_date_symbol_changed":"1997-09-05"},"entity_type":"gene","entity_name":"AIRE","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27606815"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM#\t240300"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CLN1","INCL"],"biotype":"protein_coding","hgnc_id":"HGNC:9325","gene_name":"palmitoyl-protein thioesterase 1","omim_gene":["600722"],"alias_name":["ceroid-lipofuscinosis, neuronal 1, infantile"],"gene_symbol":"PPT1","hgnc_symbol":"PPT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:40538379-40563375","ensembl_id":"ENSG00000131238"}},"GRch38":{"90":{"location":"1:40071461-40097727","ensembl_id":"ENSG00000131238"}}},"hgnc_date_symbol_changed":"2000-06-09"},"entity_type":"gene","entity_name":"PPT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Ceroid lipofuscinosis, neuronal, 1, MIM#256730"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["ZCW3","KIAA0852","AC004542.C22.1"],"biotype":"protein_coding","hgnc_id":"HGNC:23573","gene_name":"MORC family CW-type zinc finger 2","omim_gene":["616661"],"alias_name":null,"gene_symbol":"MORC2","hgnc_symbol":"MORC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:31321117-31364284","ensembl_id":"ENSG00000133422"}},"GRch38":{"90":{"location":"22:30925130-30968298","ensembl_id":"ENSG00000133422"}}},"hgnc_date_symbol_changed":"2005-06-15"},"entity_type":"gene","entity_name":"MORC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32693025"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CCHL"],"biotype":"protein_coding","hgnc_id":"HGNC:4837","gene_name":"holocytochrome c synthase","omim_gene":["300056"],"alias_name":["cytochrome c heme-lyase"],"gene_symbol":"HCCS","hgnc_symbol":"HCCS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:11129421-11141198","ensembl_id":"ENSG00000004961"}},"GRch38":{"90":{"location":"X:11111301-11123078","ensembl_id":"ENSG00000004961"}}},"hgnc_date_symbol_changed":"1995-09-20"},"entity_type":"gene","entity_name":"HCCS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Linear skin defects with multiple congenital anomalies 1, MIM#\t309801"],"mode_of_inheritance":"Other","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA0751","RIM2","OBOE"],"biotype":"protein_coding","hgnc_id":"HGNC:17283","gene_name":"regulating synaptic membrane exocytosis 2","omim_gene":["606630"],"alias_name":null,"gene_symbol":"RIMS2","hgnc_symbol":"RIMS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:104512976-105268322","ensembl_id":"ENSG00000176406"}},"GRch38":{"90":{"location":"8:103500748-104256094","ensembl_id":"ENSG00000176406"}}},"hgnc_date_symbol_changed":"2002-06-14"},"entity_type":"gene","entity_name":"RIMS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32470375"],"evidence":["Expert Review Green","Expert Review","Literature"],"phenotypes":["Cone-rod synaptic disorder syndrome, congenital nonprogressive, MIM# 618970"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["beta-catenin","armadillo"],"biotype":"protein_coding","hgnc_id":"HGNC:2514","gene_name":"catenin beta 1","omim_gene":["116806"],"alias_name":null,"gene_symbol":"CTNNB1","hgnc_symbol":"CTNNB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:41236328-41301587","ensembl_id":"ENSG00000168036"}},"GRch38":{"90":{"location":"3:41194837-41260096","ensembl_id":"ENSG00000168036"}}},"hgnc_date_symbol_changed":"1993-07-13"},"entity_type":"gene","entity_name":"CTNNB1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33350591"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Neurodevelopmental disorder with spastic diplegia and visual defects, MIM# 615075"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ22559","bA541N10.2"],"biotype":"protein_coding","hgnc_id":"HGNC:26200","gene_name":"STN1, CST complex subunit","omim_gene":["613128"],"alias_name":null,"gene_symbol":"STN1","hgnc_symbol":"STN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:105642300-105677963","ensembl_id":"ENSG00000107960"}},"GRch38":{"90":{"location":"10:103882542-103918205","ensembl_id":"ENSG00000107960"}}},"hgnc_date_symbol_changed":"2016-10-04"},"entity_type":"gene","entity_name":"STN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27432940","32627942"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Cerebroretinal microangiopathy with calcification and cysts 2, MIM#617341"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["TIN2"],"biotype":"protein_coding","hgnc_id":"HGNC:11824","gene_name":"TERF1 interacting nuclear factor 2","omim_gene":["604319"],"alias_name":null,"gene_symbol":"TINF2","hgnc_symbol":"TINF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:24708849-24711880","ensembl_id":"ENSG00000092330"}},"GRch38":{"90":{"location":"14:24239643-24242674","ensembl_id":"ENSG00000092330"}}},"hgnc_date_symbol_changed":"1999-11-19"},"entity_type":"gene","entity_name":"TINF2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["18252230","21477109","28095086","28866069","29749240","30478948"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Revesz syndrome, 268130"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CLN10"],"biotype":"protein_coding","hgnc_id":"HGNC:2529","gene_name":"cathepsin D","omim_gene":["116840"],"alias_name":["ceroid-lipofuscinosis, neuronal 10"],"gene_symbol":"CTSD","hgnc_symbol":"CTSD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:1773982-1785222","ensembl_id":"ENSG00000117984"}},"GRch38":{"90":{"location":"11:1752752-1764573","ensembl_id":"ENSG00000117984"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"CTSD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Ceroid lipofuscinosis, neuronal, 10, OMIM #610127"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:27344","gene_name":"transmembrane protein 218","omim_gene":null,"alias_name":null,"gene_symbol":"TMEM218","hgnc_symbol":"TMEM218","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:124966398-124981659","ensembl_id":"ENSG00000150433"}},"GRch38":{"90":{"location":"11:125096545-125111763","ensembl_id":"ENSG00000150433"}}},"hgnc_date_symbol_changed":"2008-06-10"},"entity_type":"gene","entity_name":"TMEM218","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33791682","25161209"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Joubert syndrome 39, MIM#619562","retinal dystrophy","polycystic kidneys","occipital encephalocele"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2076","gene_name":"CLN5, intracellular trafficking protein","omim_gene":["608102"],"alias_name":null,"gene_symbol":"CLN5","hgnc_symbol":"CLN5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:77564795-77576652","ensembl_id":"ENSG00000102805"}},"GRch38":{"90":{"location":"13:76990660-77019143","ensembl_id":"ENSG00000102805"}}},"hgnc_date_symbol_changed":"1993-11-03"},"entity_type":"gene","entity_name":"CLN5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Ceroid lipofuscinosis, neuronal, 5 OMIM #256731"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2073","gene_name":"tripeptidyl peptidase 1","omim_gene":["607998"],"alias_name":["TPP I"],"gene_symbol":"TPP1","hgnc_symbol":"TPP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:6634000-6640692","ensembl_id":"ENSG00000166340"}},"GRch38":{"90":{"location":"11:6612763-6619461","ensembl_id":"ENSG00000166340"}}},"hgnc_date_symbol_changed":"2004-12-10"},"entity_type":"gene","entity_name":"TPP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Ceroid lipofuscinosis, neuronal, 2, OMIM #204500"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. 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The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ39417"],"biotype":"protein_coding","hgnc_id":"HGNC:2079","gene_name":"CLN8, transmembrane ER and ERGIC protein","omim_gene":["607837"],"alias_name":null,"gene_symbol":"CLN8","hgnc_symbol":"CLN8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:1703944-1734738","ensembl_id":"ENSG00000182372"}},"GRch38":{"90":{"location":"8:1755778-1801711","ensembl_id":"ENSG00000182372"}}},"hgnc_date_symbol_changed":"1993-12-15"},"entity_type":"gene","entity_name":"CLN8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review Green","Expert Review"],"phenotypes":["Ceroid lipofuscinosis, neuronal, 8 OMIM #600143"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CATSF","CLN13"],"biotype":"protein_coding","hgnc_id":"HGNC:2531","gene_name":"cathepsin F","omim_gene":["603539"],"alias_name":null,"gene_symbol":"CTSF","hgnc_symbol":"CTSF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:66330934-66336312","ensembl_id":"ENSG00000174080"}},"GRch38":{"90":{"location":"11:66563463-66568841","ensembl_id":"ENSG00000174080"}}},"hgnc_date_symbol_changed":"1998-12-17"},"entity_type":"gene","entity_name":"CTSF","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review Green","Expert Review"],"phenotypes":["Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM #615362"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["IKK-gamma","NEMO","Fip3p","FIP-3","FIP3","ZC2HC9"],"biotype":null,"hgnc_id":"HGNC:5961","gene_name":"inhibitor of nuclear factor kappa B kinase subunit gamma","omim_gene":["300248"],"alias_name":null,"gene_symbol":"IKBKG","hgnc_symbol":"IKBKG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153769414-153796782","ensembl_id":"ENSG00000073009"}},"GRch38":{"90":{"location":"X:154541199-154565046","ensembl_id":"ENSG00000269335"}}},"hgnc_date_symbol_changed":"1998-09-30"},"entity_type":"gene","entity_name":"IKBKG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Incontinentia pigmenti, MIM#\t308300"],"mode_of_inheritance":"Other","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ22170","AAF132"],"biotype":"protein_coding","hgnc_id":"HGNC:26169","gene_name":"CST telomere replication complex component 1","omim_gene":["613129"],"alias_name":["conserved telomere maintenance component 1","alpha accessory factor 132","conserved telomere capping protein 1"],"gene_symbol":"CTC1","hgnc_symbol":"CTC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:8130191-8151362","ensembl_id":"ENSG00000178971"}},"GRch38":{"90":{"location":"17:8224821-8248044","ensembl_id":"ENSG00000178971"}}},"hgnc_date_symbol_changed":"2011-02-21"},"entity_type":"gene","entity_name":"CTC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["22267198"],"evidence":["Expert Review Green","Expert Review Green","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Cerebroretinal microangiopathy with calcifications and cysts MIM#612199"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ16686"],"biotype":"protein_coding","hgnc_id":"HGNC:37261","gene_name":"death domain containing 1","omim_gene":["616979"],"alias_name":null,"gene_symbol":"DTHD1","hgnc_symbol":"DTHD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:36283244-36347378","ensembl_id":"ENSG00000197057"}},"GRch38":{"90":{"location":"4:36281622-36345756","ensembl_id":"ENSG00000197057"}}},"hgnc_date_symbol_changed":"2009-10-02"},"entity_type":"gene","entity_name":"DTHD1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["23105016"],"evidence":["Expert list"],"phenotypes":["Leber congenital amaurosis with muscle dystrophy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["ARFL3"],"biotype":"protein_coding","hgnc_id":"HGNC:694","gene_name":"ADP ribosylation factor like GTPase 3","omim_gene":["604695"],"alias_name":null,"gene_symbol":"ARL3","hgnc_symbol":"ARL3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:104433488-104474164","ensembl_id":"ENSG00000138175"}},"GRch38":{"90":{"location":"10:102673731-102714407","ensembl_id":"ENSG00000138175"}}},"hgnc_date_symbol_changed":"1994-04-14"},"entity_type":"gene","entity_name":"ARL3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30269812","16565502"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Joubert syndrome 35 MIM#618161"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["Lak","FLJ22670","KIAA1527"],"biotype":"protein_coding","hgnc_id":"HGNC:20917","gene_name":"alpha kinase 1","omim_gene":["607347"],"alias_name":["lymphocyte alpha-kinase"],"gene_symbol":"ALPK1","hgnc_symbol":"ALPK1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:113206665-113363776","ensembl_id":"ENSG00000073331"}},"GRch38":{"90":{"location":"4:112285509-112442620","ensembl_id":"ENSG00000073331"}}},"hgnc_date_symbol_changed":"2004-12-01"},"entity_type":"gene","entity_name":"ALPK1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30967659","31939038"],"evidence":["Expert Review Green","Literature","Literature"],"phenotypes":["Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache (ROSAH) syndrome, MIM#614979"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["DKFZP564I122","cblC"],"biotype":"protein_coding","hgnc_id":"HGNC:24525","gene_name":"methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria","omim_gene":["609831"],"alias_name":null,"gene_symbol":"MMACHC","hgnc_symbol":"MMACHC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:45965725-45976739","ensembl_id":"ENSG00000132763"}},"GRch38":{"90":{"location":"1:45500053-45513382","ensembl_id":"ENSG00000132763"}}},"hgnc_date_symbol_changed":"2006-01-12"},"entity_type":"gene","entity_name":"MMACHC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28481040"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Methylmalonic aciduria and homocystinuria, cblC type\tMIM#277400"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CSA"],"biotype":"protein_coding","hgnc_id":"HGNC:3439","gene_name":"ERCC excision repair 8, CSA ubiquitin ligase complex subunit","omim_gene":["609412"],"alias_name":null,"gene_symbol":"ERCC8","hgnc_symbol":"ERCC8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:60169658-60240900","ensembl_id":"ENSG00000049167"}},"GRch38":{"90":{"location":"5:60873831-60945073","ensembl_id":"ENSG00000049167"}}},"hgnc_date_symbol_changed":"1995-02-07"},"entity_type":"gene","entity_name":"ERCC8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["26204423"],"evidence":["Expert Review Green","Expert Review Green","Literature","Victorian Clinical Genetics Services"],"phenotypes":["Cockayne syndrome, type A MIM#216400"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["Beta2"],"biotype":"protein_coding","hgnc_id":"HGNC:20771","gene_name":"tubulin beta 4B class IVb","omim_gene":["602660"],"alias_name":["class IVb beta-tubulin"],"gene_symbol":"TUBB4B","hgnc_symbol":"TUBB4B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:140135665-140138159","ensembl_id":"ENSG00000188229"}},"GRch38":{"90":{"location":"9:137241213-137243707","ensembl_id":"ENSG00000188229"}}},"hgnc_date_symbol_changed":"2011-10-10"},"entity_type":"gene","entity_name":"TUBB4B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29198720"],"evidence":["Expert Review Green","Expert Review Green","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Leber congenital amaurosis with early-onset deafness\tMIM#617879","Primary ciliary dyskinesia, MONDO:0016575, TUBB4B-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ12584","KIAA1868","ARM","KU-MEL-1"],"biotype":"protein_coding","hgnc_id":"HGNC:20730","gene_name":"armadillo repeat containing 9","omim_gene":["617612"],"alias_name":null,"gene_symbol":"ARMC9","hgnc_symbol":"ARMC9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:232063260-232239548","ensembl_id":"ENSG00000135931"}},"GRch38":{"90":{"location":"2:231198546-231374837","ensembl_id":"ENSG00000135931"}}},"hgnc_date_symbol_changed":"2005-10-04"},"entity_type":"gene","entity_name":"ARMC9","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["28625504"],"evidence":["Expert Review Amber","Expert list","Expert Review Green","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Joubert syndrome 30 MIM#617622"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA1592"],"biotype":"protein_coding","hgnc_id":"HGNC:105","gene_name":"cyclin and CBS domain divalent metal cation transport mediator 4","omim_gene":["607805"],"alias_name":null,"gene_symbol":"CNNM4","hgnc_symbol":"CNNM4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:97426639-97477628","ensembl_id":"ENSG00000158158"}},"GRch38":{"90":{"location":"2:96760902-96811891","ensembl_id":"ENSG00000158158"}}},"hgnc_date_symbol_changed":"1999-12-07"},"entity_type":"gene","entity_name":"CNNM4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30705057"],"evidence":["Expert Review Green","Expert list","Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":["Jalili syndrome MIM#217080"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ20695"],"biotype":"protein_coding","hgnc_id":"HGNC:22965","gene_name":"peroxisomal biogenesis factor 26","omim_gene":["608666"],"alias_name":null,"gene_symbol":"PEX26","hgnc_symbol":"PEX26","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:18560689-18613905","ensembl_id":"ENSG00000215193"}},"GRch38":{"90":{"location":"22:18077920-18131138","ensembl_id":"ENSG00000215193"}}},"hgnc_date_symbol_changed":"2003-08-05"},"entity_type":"gene","entity_name":"PEX26","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["28944237"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872","Peroxisome biogenesis disorder 7B MIM#614873"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["dJ858B16.2","PSDC"],"biotype":"protein_coding","hgnc_id":"HGNC:8999","gene_name":"phosphatidylserine decarboxylase","omim_gene":["612770"],"alias_name":null,"gene_symbol":"PISD","hgnc_symbol":"PISD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:32014477-32058418","ensembl_id":"ENSG00000241878"}},"GRch38":{"90":{"location":"22:31618491-31662432","ensembl_id":"ENSG00000241878"}}},"hgnc_date_symbol_changed":"1999-10-29"},"entity_type":"gene","entity_name":"PISD","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["31263216"],"evidence":["Expert list","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Liberfarb syndrome\tMIM#618889"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MGC10744"],"biotype":"protein_coding","hgnc_id":"HGNC:28128","gene_name":"transmembrane protein 107","omim_gene":["616183"],"alias_name":null,"gene_symbol":"TMEM107","hgnc_symbol":"TMEM107","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:8076555-8079717","ensembl_id":"ENSG00000179029"}},"GRch38":{"90":{"location":"17:8173237-8176399","ensembl_id":"ENSG00000179029"}}},"hgnc_date_symbol_changed":"2005-12-19"},"entity_type":"gene","entity_name":"TMEM107","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["26595381"],"evidence":["Expert Review Amber","Expert list","Expert Review Green","Expert Review","Victorian Clinical Genetics Services"],"phenotypes":["Joubert syndrome 29 MIM#617562","Orofaciodigital syndrome XVI MIM#617563"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ10504","LST005","MST","misato"],"biotype":"protein_coding","hgnc_id":"HGNC:29678","gene_name":"misato 1, mitochondrial distribution and morphology regulator","omim_gene":["617619"],"alias_name":null,"gene_symbol":"MSTO1","hgnc_symbol":"MSTO1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:155579979-155718153","ensembl_id":"ENSG00000125459"}},"GRch38":{"90":{"location":"1:155610205-155614967","ensembl_id":"ENSG00000125459"}}},"hgnc_date_symbol_changed":"2005-07-19"},"entity_type":"gene","entity_name":"MSTO1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29339779","28544275"],"evidence":["Expert Review Green","Expert Review Green","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Myopathy, mitochondrial, and ataxia MIM#617675"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["Zfp291"],"biotype":"protein_coding","hgnc_id":"HGNC:13081","gene_name":"S-phase cyclin A associated protein in the ER","omim_gene":["611611"],"alias_name":null,"gene_symbol":"SCAPER","hgnc_symbol":"SCAPER","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:76640526-77197785","ensembl_id":"ENSG00000140386"}},"GRch38":{"90":{"location":"15:76347904-76905444","ensembl_id":"ENSG00000140386"}}},"hgnc_date_symbol_changed":"2007-08-20"},"entity_type":"gene","entity_name":"SCAPER","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28794130"],"evidence":["Expert Review Red","Expert Review Green","Expert list","Expert Review","Expert Review Green","Expert list","Expert list","Expert Review Green","Literature"],"phenotypes":["Intellectual developmental disorder and retinitis pigmentosa MIM#618195"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["DKFZp761H079","JBTS8"],"biotype":"protein_coding","hgnc_id":"HGNC:25419","gene_name":"ADP ribosylation factor like GTPase 13B","omim_gene":["608922"],"alias_name":null,"gene_symbol":"ARL13B","hgnc_symbol":"ARL13B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:93698983-93774512","ensembl_id":"ENSG00000169379"}},"GRch38":{"90":{"location":"3:93980139-94055668","ensembl_id":"ENSG00000169379"}}},"hgnc_date_symbol_changed":"2005-11-18"},"entity_type":"gene","entity_name":"ARL13B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["18674751","30573647","25138100","29255182"],"evidence":["Expert Review Green","Expert Review Green","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Joubert syndrome 8 MIM#612291"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ13352","SRD5A2L","SRD5A2L1"],"biotype":"protein_coding","hgnc_id":"HGNC:25812","gene_name":"steroid 5 alpha-reductase 3","omim_gene":["611715"],"alias_name":null,"gene_symbol":"SRD5A3","hgnc_symbol":"SRD5A3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:56212276-56239263","ensembl_id":"ENSG00000128039"}},"GRch38":{"90":{"location":"4:55346109-55373096","ensembl_id":"ENSG00000128039"}}},"hgnc_date_symbol_changed":"2007-11-12"},"entity_type":"gene","entity_name":"SRD5A3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31638560"],"evidence":["Expert Review Green","Expert Review Green","Expert list","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Congenital disorder of glycosylation, type Iq\tMIM#612379"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA0321"],"biotype":"protein_coding","hgnc_id":"HGNC:20761","gene_name":"zinc finger FYVE-type containing 26","omim_gene":["612012"],"alias_name":["spastizin","FYVE-CENT"],"gene_symbol":"ZFYVE26","hgnc_symbol":"ZFYVE26","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:68194091-68283307","ensembl_id":"ENSG00000072121"}},"GRch38":{"90":{"location":"14:67727374-67816590","ensembl_id":"ENSG00000072121"}}},"hgnc_date_symbol_changed":"2003-04-01"},"entity_type":"gene","entity_name":"ZFYVE26","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31385551","18394578","14409555"],"evidence":["Expert Review Green","Expert Review","Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Spastic paraplegia 15, autosomal recessive MIM#270700"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ22167","ALYE870","PRO1886","JBTS20","MKS11"],"biotype":"protein_coding","hgnc_id":"HGNC:37234","gene_name":"transmembrane protein 231","omim_gene":["614949"],"alias_name":null,"gene_symbol":"TMEM231","hgnc_symbol":"TMEM231","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:75572015-75590184","ensembl_id":"ENSG00000205084"}},"GRch38":{"90":{"location":"16:75536744-75556286","ensembl_id":"ENSG00000205084"}}},"hgnc_date_symbol_changed":"2009-10-02"},"entity_type":"gene","entity_name":"TMEM231","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["23012439","27449316"],"evidence":["Expert Review Green","Expert Review Green","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Joubert syndrome 20 MIM#614970"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA1320"],"biotype":"protein_coding","hgnc_id":"HGNC:21033","gene_name":"HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1","omim_gene":["610876"],"alias_name":null,"gene_symbol":"HACE1","hgnc_symbol":"HACE1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:105175968-105307794","ensembl_id":"ENSG00000085382"}},"GRch38":{"90":{"location":"6:104728093-104859919","ensembl_id":"ENSG00000085382"}}},"hgnc_date_symbol_changed":"2003-05-07"},"entity_type":"gene","entity_name":"HACE1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["26424145"],"evidence":["Expert Review Green","Expert Review Amber","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Spastic paraplegia and psychomotor retardation with or without seizures MIM#616756"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CSB","RAD26","ARMD5"],"biotype":"protein_coding","hgnc_id":"HGNC:3438","gene_name":"ERCC excision repair 6, chromatin remodeling factor","omim_gene":["609413"],"alias_name":["Cockayne syndrome B protein"],"gene_symbol":"ERCC6","hgnc_symbol":"ERCC6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:50663414-50747584","ensembl_id":"ENSG00000225830"}},"GRch38":{"90":{"location":"10:49455368-49539538","ensembl_id":"ENSG00000225830"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"ERCC6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["26204423"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Cockayne syndrome, type B MIM#133540"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["hCAP-1A","FLJ30655"],"biotype":"protein_coding","hgnc_id":"HGNC:26406","gene_name":"sodium channel and clathrin linker 1","omim_gene":["611399"],"alias_name":null,"gene_symbol":"SCLT1","hgnc_symbol":"SCLT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:129786076-130014764","ensembl_id":"ENSG00000151466"}},"GRch38":{"90":{"location":"4:128864921-129093607","ensembl_id":"ENSG00000151466"}}},"hgnc_date_symbol_changed":"2006-07-18"},"entity_type":"gene","entity_name":"SCLT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32253632","30425282"],"evidence":["Expert Review Green","Expert Review Green","Expert list","Expert list","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Bardet Biedl syndrome","Senior-Loken syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MIP-T3","DKFZP434F124","MIPT3","IFT54"],"biotype":"protein_coding","hgnc_id":"HGNC:17861","gene_name":"TRAF3 interacting protein 1","omim_gene":["607380"],"alias_name":["microtubule interacting protein that associates with TRAF3"],"gene_symbol":"TRAF3IP1","hgnc_symbol":"TRAF3IP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:239229082-239309541","ensembl_id":"ENSG00000204104"}},"GRch38":{"90":{"location":"2:238320441-238400900","ensembl_id":"ENSG00000204104"}}},"hgnc_date_symbol_changed":"2004-03-12"},"entity_type":"gene","entity_name":"TRAF3IP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["26487268","18364699","21945076"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Senior-Loken syndrome 9, MIM# 616629","MONDO:0014712"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2183","gene_name":"vacuolar protein sorting 13 homolog B","omim_gene":["607817"],"alias_name":null,"gene_symbol":"VPS13B","hgnc_symbol":"VPS13B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:100025494-100889808","ensembl_id":"ENSG00000132549"}},"GRch38":{"90":{"location":"8:99013266-99877580","ensembl_id":"ENSG00000132549"}}},"hgnc_date_symbol_changed":"2005-04-08"},"entity_type":"gene","entity_name":"VPS13B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31580008","24334764"],"evidence":["Expert Review Green","Expert Review Green","Expert list","Expert Review","Victorian Clinical Genetics Services"],"phenotypes":["Cohen syndrome MIM#216550"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["gp330","DBS"],"biotype":"protein_coding","hgnc_id":"HGNC:6694","gene_name":"LDL receptor related protein 2","omim_gene":["600073"],"alias_name":["megalin"],"gene_symbol":"LRP2","hgnc_symbol":"LRP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:169983619-170219195","ensembl_id":"ENSG00000081479"}},"GRch38":{"90":{"location":"2:169127109-169362685","ensembl_id":"ENSG00000081479"}}},"hgnc_date_symbol_changed":"1994-05-04"},"entity_type":"gene","entity_name":"LRP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["17632512"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Donnai-Barrow syndrome MIM#222448"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["AHD","AWS","HJ1","CD339"],"biotype":"protein_coding","hgnc_id":"HGNC:6188","gene_name":"jagged 1","omim_gene":["601920"],"alias_name":null,"gene_symbol":"JAG1","hgnc_symbol":"JAG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:10618332-10654694","ensembl_id":"ENSG00000101384"}},"GRch38":{"90":{"location":"20:10637684-10674107","ensembl_id":"ENSG00000101384"}}},"hgnc_date_symbol_changed":"1997-05-22"},"entity_type":"gene","entity_name":"JAG1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["31273345"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Familial exudative vitreoretinopathy"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3113,"hash_id":null,"name":"Vitreoretinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This is a 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