Gene Search List
Search Genes
GET /api/v1/genes/?format=api&page=206
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Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "RP36" ], "biotype": "protein_coding", "hgnc_id": "HGNC:32528", "gene_name": "photoreceptor disc component", "omim_gene": [ "610598" ], "alias_name": null, "gene_symbol": "PRCD", "hgnc_symbol": "PRCD", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:74523668-74549660", "ensembl_id": "ENSG00000214140" } }, "GRch38": { "90": { "location": "17:76527586-76553578", "ensembl_id": "ENSG00000214140" } } }, "hgnc_date_symbol_changed": "2006-09-21" }, "entity_type": "gene", "entity_name": "PRCD", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "16938425", "20507925", "33087780", "31640229", "31189593", "26497376" ], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "Retinitis pigmentosa 36, 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"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": [ "KIAA1613", "PPP1R142" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29326", "gene_name": "solute carrier family 7 member 14", "omim_gene": [ "615720" ], "alias_name": [ "protein phosphatase 1, regulatory subunit 142" ], "gene_symbol": "SLC7A14", "hgnc_symbol": "SLC7A14", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:170177372-170303863", "ensembl_id": "ENSG00000013293" } }, "GRch38": { "90": { "location": "3:170459584-170586074", "ensembl_id": "ENSG00000013293" } } }, "hgnc_date_symbol_changed": "2005-06-06" }, "entity_type": "gene", "entity_name": "SLC7A14", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27028480", "24670872" ], "evidence": [ "Expert Review Red", "Royal Melbourne Hospital" ], "phenotypes": [ "Retinitis pigmentosa 68, 615725 (3)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "disputed" ], "panel": { "id": 277, "hash_id": null, "name": "Retinitis pigmentosa", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause nonsyndromic retinitis pigmentosa and Leber congenital amaurosis. \r\nNote: Exome sequencing may not be a suitable technique for detecting pathogenic variants in RPGR due to regions of low coverage.\r\n\r\nPlease consider the Syndromic Retinopathy and the Retinal Disorders Superpanel when additional features are present.", "status": "public", "version": "0.246", "version_created": "2026-04-24T16:58:06.901564+10:00", "relevant_disorders": [ "Abnormal retinal morphology", "HP:0000479" ], "stats": { "number_of_genes": 159, "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": [ "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "Stargardt disease 4, 603786", "Macular dystrophy, retinal, 2, 608051", "Retinitis pigmentosa 41, 612095", "Cone-rod dystrophy 12, 612657" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 277, "hash_id": null, "name": "Retinitis pigmentosa", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause nonsyndromic retinitis pigmentosa and Leber congenital amaurosis. \r\nNote: Exome sequencing may not be a suitable technique for detecting pathogenic variants in RPGR due to regions of low coverage.\r\n\r\nPlease consider the Syndromic Retinopathy and the Retinal Disorders Superpanel when additional features are present.", "status": "public", "version": "0.246", "version_created": "2026-04-24T16:58:06.901564+10:00", "relevant_disorders": [ "Abnormal retinal morphology", "HP:0000479" ], "stats": { "number_of_genes": 159, "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": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19074801", "25766589", "19357286", "9614228" ], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "Retinitis pigmentosa 66, 615233" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 277, "hash_id": null, "name": "Retinitis pigmentosa", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause nonsyndromic retinitis pigmentosa and Leber congenital amaurosis. \r\nNote: Exome sequencing may not be a suitable technique for detecting pathogenic variants in RPGR due to regions of low coverage.\r\n\r\nPlease consider the Syndromic Retinopathy and the Retinal Disorders Superpanel when additional features are present.", "status": "public", "version": "0.246", "version_created": "2026-04-24T16:58:06.901564+10:00", "relevant_disorders": [ "Abnormal retinal morphology", "HP:0000479" ], "stats": { "number_of_genes": 159, "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": [ "HSD3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20423", "gene_name": "spermatogenesis associated 7", "omim_gene": [ "609868" ], "alias_name": null, "gene_symbol": "SPATA7", "hgnc_symbol": "SPATA7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:88851268-88936694", "ensembl_id": "ENSG00000042317" } }, "GRch38": { "90": { "location": "14:88384924-88470350", "ensembl_id": "ENSG00000042317" } } }, "hgnc_date_symbol_changed": "2003-03-07" }, "entity_type": "gene", "entity_name": "SPATA7", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31908400", "32799588" ], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "Leber Congenital Amaurosis", "Retinitis pigmentosa, juvenile, autosomal recessive, 604232", "Leber congenital amaurosis 3" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 277, "hash_id": null, "name": "Retinitis pigmentosa", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause nonsyndromic retinitis pigmentosa and Leber congenital amaurosis. \r\nNote: Exome sequencing may 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"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": [ "26662040", "25736573", "30254279", "27655171" ], "evidence": [ "Expert Review Amber", "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": 277, "hash_id": null, "name": "Retinitis pigmentosa", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause nonsyndromic retinitis pigmentosa and Leber congenital amaurosis. \r\nNote: Exome sequencing may not be a suitable technique for detecting pathogenic variants in RPGR due to regions of low coverage.\r\n\r\nPlease consider the Syndromic Retinopathy and the Retinal Disorders Superpanel when additional features are present.", "status": "public", "version": "0.246", "version_created": "2026-04-24T16:58:06.901564+10:00", "relevant_disorders": [ "Abnormal retinal morphology", "HP:0000479" ], "stats": { "number_of_genes": 159, "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": [ "FFM", "ARMD2", "CORD3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:34", "gene_name": "ATP binding cassette subfamily A member 4", "omim_gene": [ "601691" ], "alias_name": [ "Stargardt disease" ], "gene_symbol": "ABCA4", "hgnc_symbol": "ABCA4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:94458393-94586688", "ensembl_id": "ENSG00000198691" } }, "GRch38": { "90": { "location": "1:93992835-94121132", "ensembl_id": "ENSG00000198691" } } }, "hgnc_date_symbol_changed": "1994-07-14" }, "entity_type": "gene", "entity_name": "ABCA4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "9054934", "30480703", "29847635", "29971439", "16103129", "30643219" ], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "Macular Degeneration (Dominant)", "Stargardt disease 1, 248200", "Macular degeneration, 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"2026-04-24T16:58:06.901564+10:00", "relevant_disorders": [ "Abnormal retinal morphology", "HP:0000479" ], "stats": { "number_of_genes": 159, "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": [ "RP55" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13210", "gene_name": "ADP ribosylation factor like GTPase 6", "omim_gene": [ "608845" ], "alias_name": null, "gene_symbol": "ARL6", "hgnc_symbol": "ARL6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:97483365-97519953", "ensembl_id": "ENSG00000113966" } }, "GRch38": { "90": { "location": "3:97764521-97801242", "ensembl_id": "ENSG00000113966" } } }, "hgnc_date_symbol_changed": "2004-08-18" }, "entity_type": "gene", "entity_name": "ARL6", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Amber", "Royal Melbourne Hospital" ], "phenotypes": [ "Retinitis pigmentosa 55, 613575", "Bardet-Biedl syndrome 3, 209900" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 277, "hash_id": null, "name": "Retinitis pigmentosa", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause nonsyndromic retinitis pigmentosa and Leber congenital amaurosis. \r\nNote: Exome sequencing may not be a suitable technique for detecting pathogenic variants in RPGR due to regions of low coverage.\r\n\r\nPlease consider the Syndromic Retinopathy and the Retinal Disorders Superpanel when additional features are present.", "status": "public", "version": "0.246", "version_created": "2026-04-24T16:58:06.901564+10:00", "relevant_disorders": [ "Abnormal retinal morphology", "HP:0000479" ], "stats": { "number_of_genes": 159, "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": [ "BART1", "BART" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17146", "gene_name": "ADP ribosylation factor like GTPase 2 binding protein", "omim_gene": [ "615407" ], "alias_name": [ "binder of Arl2" ], "gene_symbol": "ARL2BP", "hgnc_symbol": "ARL2BP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:57279010-57287516", "ensembl_id": "ENSG00000102931" } }, "GRch38": { "90": { "location": "16:57245098-57253635", "ensembl_id": "ENSG00000102931" } } }, "hgnc_date_symbol_changed": "2004-02-12" }, "entity_type": "gene", "entity_name": "ARL2BP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "Retinitis pigmentosa with or without situs inversus, 615434" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 277, "hash_id": null, "name": "Retinitis pigmentosa", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause nonsyndromic retinitis pigmentosa and Leber congenital amaurosis. \r\nNote: Exome sequencing may not be a suitable technique for detecting pathogenic variants in RPGR due to regions of low 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], "alias_name": [ "Rho-specific guanine nucleotide exchange factor p114" ], "gene_symbol": "ARHGEF18", "hgnc_symbol": "ARHGEF18", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:7459999-7537363", "ensembl_id": "ENSG00000104880" } }, "GRch38": { "90": { "location": "19:7395113-7472477", "ensembl_id": "ENSG00000104880" } } }, "hgnc_date_symbol_changed": "2004-01-09" }, "entity_type": "gene", "entity_name": "ARHGEF18", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "Retinitis pigmentosa 78 617433" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 277, "hash_id": null, "name": "Retinitis pigmentosa", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause nonsyndromic retinitis pigmentosa and Leber congenital 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"HGNC:359", "gene_name": "aryl hydrocarbon receptor interacting protein like 1", "omim_gene": [ "604392" ], "alias_name": null, "gene_symbol": "AIPL1", "hgnc_symbol": "AIPL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:6297013-6338519", "ensembl_id": "ENSG00000129221" } }, "GRch38": { "90": { "location": "17:6393693-6435199", "ensembl_id": "ENSG00000129221" } } }, "hgnc_date_symbol_changed": "1999-03-18" }, "entity_type": "gene", "entity_name": "AIPL1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "https://search.clinicalgenome.org/CCID:004084" ], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "AIPL1-related retinopathy (MONDO:0100438)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 277, "hash_id": null, "name": "Retinitis pigmentosa", "disease_group": "Ophthalmological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause nonsyndromic retinitis pigmentosa and Leber congenital amaurosis. \r\nNote: Exome sequencing may not be a suitable technique for detecting pathogenic variants in RPGR due to regions of low coverage.\r\n\r\nPlease consider the Syndromic Retinopathy and the Retinal Disorders Superpanel when additional features are present.", "status": "public", "version": "0.246", "version_created": "2026-04-24T16:58:06.901564+10:00", "relevant_disorders": [ "Abnormal retinal morphology", "HP:0000479" ], "stats": { "number_of_genes": 159, "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 } ] }