Gene Search List
Search Genes
GET /api/v1/genes/?format=api&page=278
{ "count": 35521, "next": "https://panelapp-aus.org/api/v1/genes/?format=api&page=279", "previous": "https://panelapp-aus.org/api/v1/genes/?format=api&page=277", "results": [ { "gene_data": { "alias": [ "ZNF698", "bA145L22", "bA145L22.2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18791", "gene_name": "ZFP57 zinc finger protein", "omim_gene": [ "612192" ], "alias_name": null, "gene_symbol": "ZFP57", "hgnc_symbol": "ZFP57", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:29640169-29648887", "ensembl_id": "ENSG00000204644" } }, "GRch38": { "90": { "location": "6:29672392-29681110", "ensembl_id": "ENSG00000204644" } } }, "hgnc_date_symbol_changed": "2005-07-20" }, "entity_type": "gene", "entity_name": "ZFP57", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25848000", "18622393", "27075368", "23150280", "30315371", "31399135", "33053156" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "IUGR", "Diabetes mellitus, transient neonatal 1 OMIM:601410", "Multi Locus Imprinting Disturbance", "diabetes mellitus, transient neonatal, 1MONDO:0011073" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3663, "hash_id": null, "name": "Imprinting disorders", "disease_group": "", "disease_sub_group": "", "description": "This panel includes:\r\n-- genes that are subject to imprinting, and where SNVs/CNVs cause disease; and\r\n-- genes associated with the regulation or modification of the imprinting process.", "status": "public", "version": "1.9", "version_created": "2025-11-11T22:13:10.948475+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 26, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "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": [ "nM15" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6814", "gene_name": "MAGE family member L2", "omim_gene": [ "605283" ], "alias_name": null, "gene_symbol": "MAGEL2", "hgnc_symbol": "MAGEL2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:23888691-23891175", "ensembl_id": "ENSG00000254585" } }, "GRch38": { "90": { "location": "15:23643544-23647841", "ensembl_id": "ENSG00000254585" } } }, "hgnc_date_symbol_changed": "1999-10-29" }, "entity_type": "gene", "entity_name": "MAGEL2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "24076603", "31397880", "29599419", "30302899" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Schaaf-Yang syndrome, MIM# 615547", "Chitayat-Hall Syndrome" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)", "tags": [], "panel": { "id": 3663, "hash_id": null, "name": "Imprinting disorders", "disease_group": "", "disease_sub_group": "", "description": "This panel includes:\r\n-- genes that are subject to imprinting, and where SNVs/CNVs cause disease; and\r\n-- genes associated with the regulation or modification of the imprinting process.", "status": "public", "version": "1.9", "version_created": "2025-11-11T22:13:10.948475+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 26, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "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": [ "AS", "ANCR", "E6-AP", "FLJ26981" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12496", "gene_name": "ubiquitin protein ligase E3A", "omim_gene": [ "601623" ], "alias_name": [ "Angelman syndrome" ], "gene_symbol": "UBE3A", "hgnc_symbol": "UBE3A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:25582381-25684128", "ensembl_id": "ENSG00000114062" } }, "GRch38": { "90": { "location": "15:25333728-25439056", "ensembl_id": "ENSG00000114062" } } }, "hgnc_date_symbol_changed": "1993-10-21" }, "entity_type": "gene", "entity_name": "UBE3A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "12545427", "8988172", "http://igc.otago.ac.nz/home.html", "18500341]", "8988171", "21974935", "2309780", "PMID: 9887341", "[7795645", "30794780" ], "evidence": [ "Genomics England PanelApp", "Expert Review Green" ], "phenotypes": [ "Affected tissue: brain", "Phenotype resulting from under expression: Angelman Syndrome" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)", "tags": [], "panel": { "id": 3663, "hash_id": null, "name": "Imprinting disorders", "disease_group": "", "disease_sub_group": "", "description": "This panel includes:\r\n-- genes that are subject to imprinting, and where SNVs/CNVs cause disease; and\r\n-- genes associated with the regulation or modification of the imprinting process.", "status": "public", "version": "1.9", "version_created": "2025-11-11T22:13:10.948475+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 26, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "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:10808", "gene_name": "sarcoglycan epsilon", "omim_gene": [ "604149" ], "alias_name": null, "gene_symbol": "SGCE", "hgnc_symbol": "SGCE", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:94214542-94285521", "ensembl_id": "ENSG00000127990" } }, "GRch38": { "90": { "location": "7:94585230-94656209", "ensembl_id": "ENSG00000127990" } } }, "hgnc_date_symbol_changed": "1999-01-11" }, "entity_type": "gene", "entity_name": "SGCE", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "16227522", "20301587", "33200041", "25209853", "23237735", "23365103", "30794780", "11528394", "12325078", "17200151" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Affected tissue: brain", "Phenotype resulting from under expression: upper body myoclonus, dystonia", "Dystonia-11, myoclonic, MIM# 159900 MONDO:0008044" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)", "tags": [], "panel": { "id": 3663, "hash_id": null, "name": "Imprinting disorders", "disease_group": "", "disease_sub_group": "", "description": "This panel includes:\r\n-- genes that are subject to imprinting, and where SNVs/CNVs cause disease; and\r\n-- genes associated with the regulation or modification of the imprinting process.", "status": "public", "version": "1.9", "version_created": "2025-11-11T22:13:10.948475+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 26, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "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": [ "GTL2", "NCRNA00023", "LINC00023", "onco-lncRNA-83" ], "biotype": "lincRNA", "hgnc_id": "HGNC:14575", "gene_name": "maternally expressed 3 (non-protein coding)", "omim_gene": [ "605636" ], "alias_name": [ "non-protein coding RNA 23", "long intergenic non-protein coding RNA 23" ], "gene_symbol": "MEG3", "hgnc_symbol": "MEG3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:101245747-101327368", "ensembl_id": "ENSG00000214548" } }, "GRch38": { "90": { "location": "14:100779410-100861031", "ensembl_id": "ENSG00000214548" } } }, "hgnc_date_symbol_changed": "2001-02-08" }, "entity_type": "gene", "entity_name": "MEG3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33010492", "33746039", "33067531", "38212313" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Kagami-Ogata syndrome, MIM#\t608149" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)", "tags": [ "SV/CNV", "non-coding gene" ], "panel": { "id": 3663, "hash_id": null, "name": "Imprinting disorders", "disease_group": "", "disease_sub_group": "", "description": "This panel includes:\r\n-- genes that are subject to imprinting, and where SNVs/CNVs cause disease; and\r\n-- genes associated with the regulation or modification of the imprinting process.", "status": "public", "version": "1.9", "version_created": "2025-11-11T22:13:10.948475+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 26, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "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": [ "OTT", "OTT1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14959", "gene_name": "RNA binding motif protein 15", "omim_gene": [ "606077" ], "alias_name": [ "one twenty-two" ], "gene_symbol": "RBM15", "hgnc_symbol": "RBM15", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:110881128-110889299", "ensembl_id": "ENSG00000162775" } }, "GRch38": { "90": { "location": "1:110338506-110346681", "ensembl_id": "ENSG00000162775" } } }, "hgnc_date_symbol_changed": "2001-05-10" }, "entity_type": "gene", "entity_name": "RBM15", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "41058181" ], "evidence": [ "Expert Review Red", "Literature", "Literature" ], "phenotypes": [ "Congenital mirror movements, RBM15-related, MONDO:0016558" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3696, "hash_id": null, "name": "Mirror movements", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause isolated congenital mirror movements. It does not contain genes associated with mirror movements as a component of a syndromic phenotype.", "status": "public", "version": "1.1", "version_created": "2025-10-29T11:42:53.240643+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 5, "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" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "dJ327J16", "PIG27" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2955", "gene_name": "dynein axonemal light chain 4", "omim_gene": [ "610565" ], "alias_name": null, "gene_symbol": "DNAL4", "hgnc_symbol": "DNAL4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:39174513-39190203", "ensembl_id": "ENSG00000100246" } }, "GRch38": { "90": { "location": "22:38778508-38794198", "ensembl_id": "ENSG00000100246" } } }, "hgnc_date_symbol_changed": "1999-10-19" }, "entity_type": "gene", "entity_name": "DNAL4", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25098561", "25236653" ], "evidence": [ "Other" ], "phenotypes": [ "Mirror movements 3 MIM#616059" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3696, "hash_id": null, "name": "Mirror movements", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause isolated congenital mirror movements. It does not contain genes associated with mirror movements as a component of a syndromic phenotype.", "status": "public", "version": "1.1", "version_created": "2025-10-29T11:42:53.240643+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 5, "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" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "NTN1L" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8029", "gene_name": "netrin 1", "omim_gene": [ "601614" ], "alias_name": [ "Netrin-1" ], "gene_symbol": "NTN1", "hgnc_symbol": "NTN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:8924859-9147317", "ensembl_id": "ENSG00000065320" } }, "GRch38": { "90": { "location": "17:9021542-9244000", "ensembl_id": "ENSG00000065320" } } }, "hgnc_date_symbol_changed": "1999-04-15" }, "entity_type": "gene", "entity_name": "NTN1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25763452", "28945198", "33472083" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Mirror movements 4 MIM#618264" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3696, "hash_id": null, "name": "Mirror movements", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause isolated congenital mirror movements. It does not contain genes associated with mirror movements as a component of a syndromic phenotype.", "status": "public", "version": "1.1", "version_created": "2025-10-29T11:42:53.240643+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 5, "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" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "IGDCC1", "NTN1R1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2701", "gene_name": "DCC netrin 1 receptor", "omim_gene": [ "120470" ], "alias_name": [ "immunoglobulin superfamily, DCC subclass, member 1" ], "gene_symbol": "DCC", "hgnc_symbol": "DCC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:49866542-51057784", "ensembl_id": "ENSG00000187323" } }, "GRch38": { "90": { "location": "18:52340172-53535903", "ensembl_id": "ENSG00000187323" } } }, "hgnc_date_symbol_changed": "1990-05-25" }, "entity_type": "gene", "entity_name": "DCC", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "20431009", "25763452", "28250454" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Mirror movements 1 and/or agenesis of the corpus callosum MIM#157600" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3696, "hash_id": null, "name": "Mirror movements", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause isolated congenital mirror movements. It does not contain genes associated with mirror movements as a component of a syndromic phenotype.", "status": "public", "version": "1.1", "version_created": "2025-10-29T11:42:53.240643+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 5, "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" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "HsRad51", "HsT16930", "BRCC5", "FANCR" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9817", "gene_name": "RAD51 recombinase", "omim_gene": [ "179617" ], "alias_name": [ "BRCA1/BRCA2-containing complex, subunit 5" ], "gene_symbol": "RAD51", "hgnc_symbol": "RAD51", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:40986972-41024354", "ensembl_id": "ENSG00000051180" } }, "GRch38": { "90": { "location": "15:40694774-40732339", "ensembl_id": "ENSG00000051180" } } }, "hgnc_date_symbol_changed": "1993-05-26" }, "entity_type": "gene", "entity_name": "RAD51", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25763452", "22305526", "27830107", "24808016" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Mirror movements 2 MIM#614508" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3696, "hash_id": null, "name": "Mirror movements", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause isolated congenital mirror movements. 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