Gene Search List
Search Genes
GET /api/v1/genes/?format=api&page=214
{ "count": 35557, "next": "https://panelapp-aus.org/api/v1/genes/?format=api&page=215", "previous": "https://panelapp-aus.org/api/v1/genes/?format=api&page=213", "results": [ { "gene_data": { "alias": [ "FBLN6", "FIBL6", "FIBL-6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19194", "gene_name": "hemicentin 1", "omim_gene": [ "608548" ], "alias_name": [ "fibulin 6" ], "gene_symbol": "HMCN1", "hgnc_symbol": "HMCN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:185703683-186160085", "ensembl_id": "ENSG00000143341" } }, "GRch38": { "90": { "location": "1:185734551-186190949", "ensembl_id": "ENSG00000143341" } } }, "hgnc_date_symbol_changed": "2005-06-03" }, "entity_type": "gene", "entity_name": "HMCN1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Royal Melbourne Hospital" ], "phenotypes": [ "Macular Degeneration" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 303, "hash_id": null, "name": "Macular Dystrophy/Stargardt Disease", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause macular dystrophy and Stargardt disease. It is maintained by the Royal Melbourne Hospital for use in the ocular genetics clinic. It is a consensus panel used by VCGS.\r\n\r\nConsider using the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.", "status": "public", "version": "0.60", "version_created": "2026-03-31T16:05:02.510211+11:00", "relevant_disorders": [ "Macular dystrophy", "HP:0007754" ], "stats": { "number_of_genes": 39, "number_of_strs": 0, "number_of_regions": 0 }, "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": [ "IPM200", "RP56" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18362", "gene_name": "interphotoreceptor matrix proteoglycan 2", "omim_gene": [ "607056" ], "alias_name": null, "gene_symbol": "IMPG2", "hgnc_symbol": "IMPG2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:100941390-101039404", "ensembl_id": "ENSG00000081148" } }, "GRch38": { "90": { "location": "3:101222546-101320560", "ensembl_id": "ENSG00000081148" } } }, "hgnc_date_symbol_changed": "2002-03-15" }, "entity_type": "gene", "entity_name": "IMPG2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Royal Melbourne Hospital", "Expert Review Green" ], "phenotypes": [ "Retinitis pigmentosa 56", "Maculopathy, IMPG2 - related" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 303, "hash_id": null, "name": "Macular Dystrophy/Stargardt Disease", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause macular dystrophy and Stargardt disease. It is maintained by the Royal Melbourne Hospital for use in the ocular genetics clinic. It is a consensus panel used by VCGS.\r\n\r\nConsider using the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.", "status": "public", "version": "0.60", "version_created": "2026-03-31T16:05:02.510211+11:00", "relevant_disorders": [ "Macular dystrophy", "HP:0007754" ], "stats": { "number_of_genes": 39, "number_of_strs": 0, "number_of_regions": 0 }, "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": [ "IPM150", "GP147" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6055", "gene_name": "interphotoreceptor matrix proteoglycan 1", "omim_gene": [ "602870" ], "alias_name": null, "gene_symbol": "IMPG1", "hgnc_symbol": "IMPG1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:76630832-76782395", "ensembl_id": "ENSG00000112706" } }, "GRch38": { "90": { "location": "6:75921115-76072678", "ensembl_id": "ENSG00000112706" } } }, "hgnc_date_symbol_changed": "1997-08-28" }, "entity_type": "gene", "entity_name": "IMPG1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23993198", "28644393", "30589393", "30688845", "32817297" ], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "Macular dystrophy, vitelliform, 4, OMIM:616151", "Retinitis pigmentosa, MONDO:0019200" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 303, "hash_id": null, "name": "Macular Dystrophy/Stargardt Disease", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause macular dystrophy and Stargardt disease. It is maintained by the Royal Melbourne Hospital for use in the ocular genetics clinic. It is a consensus panel used by VCGS.\r\n\r\nConsider using the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.", "status": "public", "version": "0.60", "version_created": "2026-03-31T16:05:02.510211+11:00", "relevant_disorders": [ "Macular dystrophy", "HP:0007754" ], "stats": { "number_of_genes": 39, "number_of_strs": 0, "number_of_regions": 0 }, "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": [ "MGC33302" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28486", "gene_name": "major facilitator superfamily domain containing 8", "omim_gene": [ "611124" ], "alias_name": null, "gene_symbol": "MFSD8", "hgnc_symbol": "MFSD8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:128838960-128887150", "ensembl_id": "ENSG00000164073" } }, "GRch38": { "90": { "location": "4:127917732-127966034", "ensembl_id": "ENSG00000164073" } } }, "hgnc_date_symbol_changed": "2007-02-19" }, "entity_type": "gene", "entity_name": "MFSD8", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Royal Melbourne Hospital", "Expert Review Green" ], "phenotypes": [ "Ceroid lipofuscinosis, neuronal, 7, 610951", "Macular dystrophy with central cone involvement, 616170" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 303, "hash_id": null, "name": "Macular Dystrophy/Stargardt Disease", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause macular dystrophy and Stargardt disease. It is maintained by the Royal Melbourne Hospital for use in the ocular genetics clinic. It is a consensus panel used by VCGS.\r\n\r\nConsider using the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.", "status": "public", "version": "0.60", "version_created": "2026-03-31T16:05:02.510211+11:00", "relevant_disorders": [ "Macular dystrophy", "HP:0007754" ], "stats": { "number_of_genes": 39, "number_of_strs": 0, "number_of_regions": 0 }, "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:8522", "gene_name": "orthodenticle homeobox 2", "omim_gene": [ "600037" ], "alias_name": null, "gene_symbol": "OTX2", "hgnc_symbol": "OTX2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:57267425-57277197", "ensembl_id": "ENSG00000165588" } }, "GRch38": { "90": { "location": "14:56799905-56810479", "ensembl_id": "ENSG00000165588" } } }, "hgnc_date_symbol_changed": "1994-02-08" }, "entity_type": "gene", "entity_name": "OTX2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Royal Melbourne Hospital", "Expert Review Green" ], "phenotypes": [ "autosomal-dominant pattern dystrophy of the retinal pigment epithelium", "early onset retinal dystrophy", "Microphthalmia, syndromic 5, 610125" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 303, "hash_id": null, "name": "Macular Dystrophy/Stargardt Disease", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause macular dystrophy and Stargardt disease. It is maintained by the Royal Melbourne Hospital for use in the ocular genetics clinic. It is a consensus panel used by VCGS.\r\n\r\nConsider using the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.", "status": "public", "version": "0.60", "version_created": "2026-03-31T16:05:02.510211+11:00", "relevant_disorders": [ "Macular dystrophy", "HP:0007754" ], "stats": { "number_of_genes": 39, "number_of_strs": 0, "number_of_regions": 0 }, "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:13998", "gene_name": "PR/SET domain 13", "omim_gene": [ "616741" ], "alias_name": null, "gene_symbol": "PRDM13", "hgnc_symbol": "PRDM13", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:100054606-100063454", "ensembl_id": "ENSG00000112238" } }, "GRch38": { "90": { "location": "6:99606730-99615578", "ensembl_id": "ENSG00000112238" } } }, "hgnc_date_symbol_changed": "2000-11-28" }, "entity_type": "gene", "entity_name": "PRDM13", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "29258872", "28973654", "26507665", "30710461" ], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "Macular dystrophy, North Carolina type, MIM#136550", "Retinal dystrophy", "Chorioretinal atrophy, progressive bifocal, MIM# 600790" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [ "SV/CNV", "5'UTR" ], "panel": { "id": 303, "hash_id": null, "name": "Macular Dystrophy/Stargardt Disease", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause macular dystrophy and Stargardt disease. It is maintained by the Royal Melbourne Hospital for use in the ocular genetics clinic. It is a consensus panel used by VCGS.\r\n\r\nConsider using the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.", "status": "public", "version": "0.60", "version_created": "2026-03-31T16:05:02.510211+11:00", "relevant_disorders": [ "Macular dystrophy", "HP:0007754" ], "stats": { "number_of_genes": 39, "number_of_strs": 0, "number_of_regions": 0 }, "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": [ "AC133", "CD133", "RP41", "CORD12" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9454", "gene_name": "prominin 1", "omim_gene": [ "604365" ], "alias_name": null, "gene_symbol": "PROM1", "hgnc_symbol": "PROM1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:15964699-16086001", "ensembl_id": "ENSG00000007062" } }, "GRch38": { "90": { "location": "4:15963076-16084378", "ensembl_id": "ENSG00000007062" } } }, "hgnc_date_symbol_changed": "2003-03-28" }, "entity_type": "gene", "entity_name": "PROM1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Royal Melbourne Hospital", "Expert Review Green" ], "phenotypes": [ "Retinitis pigmentosa 41, 612095", "Cone-rod dystrophy 12, 612657", "Stargardt disease 4, 603786", "Macular dystrophy, retinal, 2, 608051" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 303, "hash_id": null, "name": "Macular Dystrophy/Stargardt Disease", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause macular dystrophy and Stargardt disease. It is maintained by the Royal Melbourne Hospital for use in the ocular genetics clinic. It is a consensus panel used by VCGS.\r\n\r\nConsider using the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.", "status": "public", "version": "0.60", "version_created": "2026-03-31T16:05:02.510211+11:00", "relevant_disorders": [ "Macular dystrophy", "HP:0007754" ], "stats": { "number_of_genes": 39, "number_of_strs": 0, "number_of_regions": 0 }, "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": [ "TSPAN22", "rd2", "CACD2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9942", "gene_name": "peripherin 2", "omim_gene": [ "179605" ], "alias_name": null, "gene_symbol": "PRPH2", "hgnc_symbol": "PRPH2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:42664340-42690312", "ensembl_id": "ENSG00000112619" } }, "GRch38": { "90": { "location": "6:42696600-42722574", "ensembl_id": "ENSG00000112619" } } }, "hgnc_date_symbol_changed": "2006-11-23" }, "entity_type": "gene", "entity_name": "PRPH2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "PRPH2-related retinopathy MONDO:1040055" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 303, "hash_id": null, "name": "Macular Dystrophy/Stargardt Disease", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause macular dystrophy and Stargardt disease. It is maintained by the Royal Melbourne Hospital for use in the ocular genetics clinic. It is a consensus panel used by VCGS.\r\n\r\nConsider using the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.", "status": "public", "version": "0.60", "version_created": "2026-03-31T16:05:02.510211+11:00", "relevant_disorders": [ "Macular dystrophy", "HP:0007754" ], "stats": { "number_of_genes": 39, "number_of_strs": 0, "number_of_regions": 0 }, "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": [ "D10S64", "D10S65", "D10S66", "RP66" ], "biotype": null, "hgnc_id": "HGNC:9921", "gene_name": "retinol binding protein 3", "omim_gene": [ "180290" ], "alias_name": [ "interstitial retinol-binding protein 3" ], "gene_symbol": "RBP3", "hgnc_symbol": "RBP3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:48381487-48390991", "ensembl_id": "ENSG00000107618" } }, "GRch38": { "90": { "location": "10:47348371-47357875", "ensembl_id": "ENSG00000265203" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "RBP3", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25766589", "19074801" ], "evidence": [ "Expert Review Amber", "Royal Melbourne Hospital" ], "phenotypes": [ "Retinitis pigmentosa 66, 615233" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 303, "hash_id": null, "name": "Macular Dystrophy/Stargardt Disease", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause macular dystrophy and Stargardt disease. It is maintained by the Royal Melbourne Hospital for use in the ocular genetics clinic. It is a consensus panel used by VCGS.\r\n\r\nConsider using the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.", "status": "public", "version": "0.60", "version_created": "2026-03-31T16:05:02.510211+11:00", "relevant_disorders": [ "Macular dystrophy", "HP:0007754" ], "stats": { "number_of_genes": 39, "number_of_strs": 0, "number_of_regions": 0 }, "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": [ "FLJ30273", "SDR7C2", "LCA13", "RP53" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19977", "gene_name": "retinol dehydrogenase 12 (all-trans/9-cis/11-cis)", "omim_gene": [ "608830" ], "alias_name": [ "short chain dehydrogenase/reductase family 7C, member 2" ], "gene_symbol": "RDH12", "hgnc_symbol": "RDH12", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:68168603-68201169", "ensembl_id": "ENSG00000139988" } }, "GRch38": { "90": { "location": "14:67701886-67734452", "ensembl_id": "ENSG00000139988" } } }, "hgnc_date_symbol_changed": "2002-12-11" }, "entity_type": "gene", "entity_name": "RDH12", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Royal Melbourne Hospital", "Expert Review Green" ], "phenotypes": [ "Leber congenital amaurosis 13, 612712" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 303, "hash_id": null, "name": "Macular Dystrophy/Stargardt Disease", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause macular dystrophy and Stargardt disease. It is maintained by the Royal Melbourne Hospital for use in the ocular genetics clinic. It is a consensus panel used by VCGS.\r\n\r\nConsider using the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.", "status": "public", "version": "0.60", "version_created": "2026-03-31T16:05:02.510211+11:00", "relevant_disorders": [ "Macular dystrophy", "HP:0007754" ], "stats": { "number_of_genes": 39, "number_of_strs": 0, "number_of_regions": 0 }, "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": [ "RGI1", "LCA6", "CORD13" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13436", "gene_name": "RPGR interacting protein 1", "omim_gene": [ "605446" ], "alias_name": null, "gene_symbol": "RPGRIP1", "hgnc_symbol": "RPGRIP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:21756098-21819460", "ensembl_id": "ENSG00000092200" } }, "GRch38": { "90": { "location": "14:21287939-21351301", "ensembl_id": "ENSG00000092200" } } }, "hgnc_date_symbol_changed": "2000-12-20" }, "entity_type": "gene", "entity_name": "RPGRIP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Royal Melbourne Hospital", "Expert Review Green" ], "phenotypes": [ "Leber congenital amaurosis 6, 613826", "Cone-rod dystrophy 13, 608194" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 303, "hash_id": null, "name": "Macular Dystrophy/Stargardt Disease", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause macular dystrophy and Stargardt disease. It is maintained by the Royal Melbourne Hospital for use in the ocular genetics clinic. It is a consensus panel used by VCGS.\r\n\r\nConsider using the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.", "status": "public", "version": "0.60", "version_created": "2026-03-31T16:05:02.510211+11:00", "relevant_disorders": [ "Macular dystrophy", "HP:0007754" ], "stats": { "number_of_genes": 39, "number_of_strs": 0, "number_of_regions": 0 }, "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": [ "KIAA1775", "CORD15", "RP65" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14550", "gene_name": "cadherin related family member 1", "omim_gene": [ "609502" ], "alias_name": null, "gene_symbol": "CDHR1", "hgnc_symbol": "CDHR1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:85954410-85979377", "ensembl_id": "ENSG00000148600" } }, "GRch38": { "90": { "location": "10:84194635-84219621", "ensembl_id": "ENSG00000148600" } } }, "hgnc_date_symbol_changed": "2010-01-25" }, "entity_type": "gene", "entity_name": "CDHR1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32681094", "31387115", "35627310" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Genetic macular dystrophy MONDO:0020242" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 303, "hash_id": null, "name": "Macular Dystrophy/Stargardt Disease", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause macular dystrophy and Stargardt disease. It is maintained by the Royal Melbourne Hospital for use in the ocular genetics clinic. It is a consensus panel used by VCGS.\r\n\r\nConsider using the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.", "status": "public", "version": "0.60", "version_created": "2026-03-31T16:05:02.510211+11:00", "relevant_disorders": [ "Macular dystrophy", "HP:0007754" ], "stats": { "number_of_genes": 39, "number_of_strs": 0, "number_of_regions": 0 }, "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": [ "DKFZp686E1583" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25394", "gene_name": "sterile alpha motif domain containing 7", "omim_gene": null, "alias_name": null, "gene_symbol": "SAMD7", "hgnc_symbol": "SAMD7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:169629360-169656963", "ensembl_id": "ENSG00000187033" } }, "GRch38": { "90": { "location": "3:169911572-169939175", "ensembl_id": "ENSG00000187033" } } }, "hgnc_date_symbol_changed": "2003-12-19" }, "entity_type": "gene", "entity_name": "SAMD7", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "38272031" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Macular dystrophy with or without cone dysfunction, MIM# 620762" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 303, "hash_id": null, "name": "Macular Dystrophy/Stargardt Disease", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause macular dystrophy and Stargardt disease. It is maintained by the Royal Melbourne Hospital for use in the ocular genetics clinic. It is a consensus panel used by VCGS.\r\n\r\nConsider using the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.", "status": "public", "version": "0.60", "version_created": "2026-03-31T16:05:02.510211+11:00", "relevant_disorders": [ "Macular dystrophy", "HP:0007754" ], "stats": { "number_of_genes": 39, "number_of_strs": 0, "number_of_regions": 0 }, "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": [ "PP1030", "AP-5", "DKFZp761E198" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25104", "gene_name": "adaptor related protein complex 5 beta 1 subunit", "omim_gene": [ "614367" ], "alias_name": null, "gene_symbol": "AP5B1", "hgnc_symbol": "AP5B1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:65543364-65548273", "ensembl_id": "ENSG00000254470" } }, "GRch38": { "90": { "location": "11:65775893-65780802", "ensembl_id": "ENSG00000254470" } } }, "hgnc_date_symbol_changed": "2012-02-27" }, "entity_type": "gene", "entity_name": "AP5B1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40081374", "41830174" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Hereditary macular dystrophy MONDO:0020242, AP-5 complex-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 303, "hash_id": null, "name": "Macular Dystrophy/Stargardt Disease", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause macular dystrophy and Stargardt disease. It is maintained by the Royal Melbourne Hospital for use in the ocular genetics clinic. It is a consensus panel used by VCGS.\r\n\r\nConsider using the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.", "status": "public", "version": "0.60", "version_created": "2026-03-31T16:05:02.510211+11:00", "relevant_disorders": [ "Macular dystrophy", "HP:0007754" ], "stats": { "number_of_genes": 39, "number_of_strs": 0, "number_of_regions": 0 }, "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": [ "FLJ10813", "MuD", "mu5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20192", "gene_name": "adaptor related protein complex 5 mu 1 subunit", "omim_gene": [ "614368" ], "alias_name": [ "Mu-2 related death-inducing gene" ], "gene_symbol": "AP5M1", "hgnc_symbol": "AP5M1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:57735627-57756797", "ensembl_id": "ENSG00000053770" } }, "GRch38": { "90": { "location": "14:57268909-57298742", "ensembl_id": "ENSG00000053770" } } }, "hgnc_date_symbol_changed": "2012-03-20" }, "entity_type": "gene", "entity_name": "AP5M1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40081374" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Hereditary macular dystrophy MONDO:0020242, AP-5 complex-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 303, "hash_id": null, "name": "Macular Dystrophy/Stargardt Disease", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause macular dystrophy and Stargardt disease. It is maintained by the Royal Melbourne Hospital for use in the ocular genetics clinic. It is a consensus panel used by VCGS.\r\n\r\nConsider using the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.", "status": "public", "version": "0.60", "version_created": "2026-03-31T16:05:02.510211+11:00", "relevant_disorders": [ "Macular dystrophy", "HP:0007754" ], "stats": { "number_of_genes": 39, "number_of_strs": 0, "number_of_regions": 0 }, "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": [ "SPG48", "zeta" ], "biotype": "protein_coding", "hgnc_id": "HGNC:22197", "gene_name": "adaptor related protein complex 5 zeta 1 subunit", "omim_gene": [ "613653" ], "alias_name": null, "gene_symbol": "AP5Z1", "hgnc_symbol": "AP5Z1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:4815253-4833943", "ensembl_id": "ENSG00000242802" } }, "GRch38": { "90": { "location": "7:4775622-4794312", "ensembl_id": "ENSG00000242802" } } }, "hgnc_date_symbol_changed": "2012-03-20" }, "entity_type": "gene", "entity_name": "AP5Z1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40081374" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Hereditary macular dystrophy MONDO:0020242" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 303, "hash_id": null, "name": "Macular Dystrophy/Stargardt Disease", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause macular dystrophy and Stargardt disease. It is maintained by the Royal Melbourne Hospital for use in the ocular genetics clinic. It is a consensus panel used by VCGS.\r\n\r\nConsider using the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.", "status": "public", "version": "0.60", "version_created": "2026-03-31T16:05:02.510211+11:00", "relevant_disorders": [ "Macular dystrophy", "HP:0007754" ], "stats": { "number_of_genes": 39, "number_of_strs": 0, "number_of_regions": 0 }, "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": [ "3pK", "MAPKAP3", "3PK" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6888", "gene_name": "mitogen-activated protein kinase-activated protein kinase 3", "omim_gene": [ "602130" ], "alias_name": null, "gene_symbol": "MAPKAPK3", "hgnc_symbol": "MAPKAPK3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:50648951-50686720", "ensembl_id": "ENSG00000114738" } }, "GRch38": { "90": { "location": "3:50611520-50649297", "ensembl_id": "ENSG00000114738" } } }, "hgnc_date_symbol_changed": "1999-03-26" }, "entity_type": "gene", "entity_name": "MAPKAPK3", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "26744326" ], "evidence": [ "Literature", "Literature" ], "phenotypes": [ "patterned macular dystrophy 3 MONDO:0014920" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 303, "hash_id": null, "name": "Macular Dystrophy/Stargardt Disease", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause macular dystrophy and Stargardt disease. It is maintained by the Royal Melbourne Hospital for use in the ocular genetics clinic. It is a consensus panel used by VCGS.\r\n\r\nConsider using the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.", "status": "public", "version": "0.60", "version_created": "2026-03-31T16:05:02.510211+11:00", "relevant_disorders": [ "Macular dystrophy", "HP:0007754" ], "stats": { "number_of_genes": 39, "number_of_strs": 0, "number_of_regions": 0 }, "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": [ "TN" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11891", "gene_name": "C-type lectin domain family 3 member B", "omim_gene": [ "187520" ], "alias_name": null, "gene_symbol": "CLEC3B", "hgnc_symbol": "CLEC3B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:45043040-45077563", "ensembl_id": "ENSG00000163815" } }, "GRch38": { "90": { "location": "3:45001548-45036071", "ensembl_id": "ENSG00000163815" } } }, "hgnc_date_symbol_changed": "2005-02-09" }, "entity_type": "gene", "entity_name": "CLEC3B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 35331648" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Macular dystrophy, retinal, 4, OMIM #619977" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "founder" ], "panel": { "id": 303, "hash_id": null, "name": "Macular Dystrophy/Stargardt Disease", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause macular dystrophy and Stargardt disease. It is maintained by the Royal Melbourne Hospital for use in the ocular genetics clinic. It is a consensus panel used by VCGS.\r\n\r\nConsider using the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.", "status": "public", "version": "0.60", "version_created": "2026-03-31T16:05:02.510211+11:00", "relevant_disorders": [ "Macular dystrophy", "HP:0007754" ], "stats": { "number_of_genes": 39, "number_of_strs": 0, "number_of_regions": 0 }, "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": [ "HYPE", "HIP13" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18416", "gene_name": "FIC domain containing", "omim_gene": null, "alias_name": [ "huntingtin interacting protein 13", "fic S-phase protein cell division homolog (E. coli)" ], "gene_symbol": "FICD", "hgnc_symbol": "FICD", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:108908962-108919614", "ensembl_id": "ENSG00000198855" } }, "GRch38": { "90": { "location": "12:108515185-108525837", "ensembl_id": "ENSG00000198855" } } }, "hgnc_date_symbol_changed": "2007-12-04" }, "entity_type": "gene", "entity_name": "FICD", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "36136088" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Spastic paraplegia 92, autosomal recessive, MIM# 620911" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 317, "hash_id": null, "name": "Hereditary Spastic Paraplegia", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause both isolated and complicated hereditary spastic paraplegia. 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