Gene Search List
Search Genes
GET /api/v1/genes/?format=api&page=248
{ "count": 35535, "next": "https://panelapp-aus.org/api/v1/genes/?format=api&page=249", "previous": "https://panelapp-aus.org/api/v1/genes/?format=api&page=247", "results": [ { "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": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27604308" ], "evidence": [ "MetBioNet", "Expert Review Amber", "South West GLH", "NHS GMS" ], "phenotypes": [ "Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap", "Methylmalonic aciduria", "DCM", "Methylmalonic aciduria and homocystinuria, cblC type, 277400", "Hypertrophic-hypocontractile cardiomyopathy" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3270, "hash_id": null, "name": "Cardiomyopathy_Paediatric", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.", "status": "public", "version": "0.229", "version_created": "2026-03-31T18:53:53.165018+11:00", "relevant_disorders": [ "Cardiomyopathy", "HP:0001638;Abnormality of the myocardium", "HP:0001637" ], "stats": { "number_of_genes": 252, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "trnI" ], "biotype": "Mt_tRNA", "hgnc_id": "HGNC:7488", "gene_name": "mitochondrially encoded tRNA isoleucine", "omim_gene": [ "590045" ], "alias_name": null, "gene_symbol": "MT-TI", "hgnc_symbol": "MT-TI", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "MT:4263-4331", "ensembl_id": "ENSG00000210100" } }, "GRch38": { "90": { "location": "MT:4263-4331", "ensembl_id": "ENSG00000210100" } } }, "hgnc_date_symbol_changed": "2005-02-16" }, "entity_type": "gene", "entity_name": "MT-TI", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Literature", "Expert Review Amber", "NHS GMS" ], "phenotypes": [], "mode_of_inheritance": "MITOCHONDRIAL", "tags": [], "panel": { "id": 3270, "hash_id": null, "name": "Cardiomyopathy_Paediatric", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.", "status": "public", "version": "0.229", "version_created": "2026-03-31T18:53:53.165018+11:00", "relevant_disorders": [ "Cardiomyopathy", "HP:0001638;Abnormality of the myocardium", "HP:0001637" ], "stats": { "number_of_genes": 252, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TBDN100", "NATH", "FLJ13340" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30782", "gene_name": "N(alpha)-acetyltransferase 15, NatA auxiliary subunit", "omim_gene": [ "608000" ], "alias_name": null, "gene_symbol": "NAA15", "hgnc_symbol": "NAA15", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:140222609-140341187", "ensembl_id": "ENSG00000164134" } }, "GRch38": { "90": { "location": "4:139301455-139420033", "ensembl_id": "ENSG00000164134" } } }, "hgnc_date_symbol_changed": "2010-01-14" }, "entity_type": "gene", "entity_name": "NAA15", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "33103328" ], "evidence": [ "Expert Review Amber", "NHS GMS" ], "phenotypes": [ "Mental retardation, autosomal dominant 50, MIM#\t617787", "cardiomyopathy" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3270, "hash_id": null, "name": "Cardiomyopathy_Paediatric", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.", "status": "public", "version": "0.229", "version_created": "2026-03-31T18:53:53.165018+11:00", "relevant_disorders": [ "Cardiomyopathy", "HP:0001638;Abnormality of the myocardium", "HP:0001637" ], "stats": { "number_of_genes": 252, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "NAG" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7632", "gene_name": "N-acetyl-alpha-glucosaminidase", "omim_gene": [ "609701" ], "alias_name": [ "Sanfilippo disease IIIB" ], "gene_symbol": "NAGLU", "hgnc_symbol": "NAGLU", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:40688190-40696467", "ensembl_id": "ENSG00000108784" } }, "GRch38": { "90": { "location": "17:42536172-42544449", "ensembl_id": "ENSG00000108784" } } }, "hgnc_date_symbol_changed": "1995-09-15" }, "entity_type": "gene", "entity_name": "NAGLU", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27604308" ], "evidence": [ "MetBioNet", "Expert Review Amber", "NHS GMS" ], "phenotypes": [ "Mucopolysaccharidosis Type III", "MPS IIIB, Sanfilippo B disease (Mucopolysaccharidoses)", "Mucopolysaccharidosis, Type III", "MUCOPOLYSACCHARIDOSIS TYPE 3B", "Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920", "Mucopolysaccharidosis Type IIIB" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3270, "hash_id": null, "name": "Cardiomyopathy_Paediatric", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.", "status": "public", "version": "0.229", "version_created": "2026-03-31T18:53:53.165018+11:00", "relevant_disorders": [ "Cardiomyopathy", "HP:0001638;Abnormality of the myocardium", "HP:0001637" ], "stats": { "number_of_genes": 252, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MLRQ", "CI-9k" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7687", "gene_name": "NDUFA4, mitochondrial complex associated", "omim_gene": [ "603833" ], "alias_name": [ "complex I 9kDa subunit", "NADH-ubiquinone oxidoreductase MLRQ subunit" ], "gene_symbol": "NDUFA4", "hgnc_symbol": "NDUFA4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:10971578-10979883", "ensembl_id": "ENSG00000189043" } }, "GRch38": { "90": { "location": "7:10931951-10940256", "ensembl_id": "ENSG00000189043" } } }, "hgnc_date_symbol_changed": "1996-08-30" }, "entity_type": "gene", "entity_name": "NDUFA4", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23746447", "29636225", "30361421", "28988874" ], "evidence": [ "Expert Review Red", "MetBioNet", "NHS GMS" ], "phenotypes": [ "Mitochondrial complex IV deficiency, nuclear type 21, MIM#619065" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3270, "hash_id": null, "name": "Cardiomyopathy_Paediatric", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.", "status": "public", "version": "0.229", "version_created": "2026-03-31T18:53:53.165018+11:00", "relevant_disorders": [ "Cardiomyopathy", "HP:0001638;Abnormality of the myocardium", "HP:0001637" ], "stats": { "number_of_genes": 252, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ASHI", "CI-ASHI" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7703", "gene_name": "NADH:ubiquinone oxidoreductase subunit B8", "omim_gene": [ "602140" ], "alias_name": [ "complex I ASHI subunit" ], "gene_symbol": "NDUFB8", "hgnc_symbol": "NDUFB8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:102267203-102289757", "ensembl_id": "ENSG00000166136" } }, "GRch38": { "90": { "location": "10:100523740-100530000", "ensembl_id": "ENSG00000166136" } } }, "hgnc_date_symbol_changed": "1996-10-18" }, "entity_type": "gene", "entity_name": "NDUFB8", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29429571", "27290639" ], "evidence": [ "MetBioNet", "Expert Review Amber", "NHS GMS" ], "phenotypes": [ "Mitochondrial complex I deficiency, nuclear type 32, 618252" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3270, "hash_id": null, "name": "Cardiomyopathy_Paediatric", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.", "status": "public", "version": "0.229", "version_created": "2026-03-31T18:53:53.165018+11:00", "relevant_disorders": [ "Cardiomyopathy", "HP:0001638;Abnormality of the myocardium", "HP:0001637" ], "stats": { "number_of_genes": 252, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:40038", "gene_name": "PET100 homolog", "omim_gene": [ "614770" ], "alias_name": null, "gene_symbol": "PET100", "hgnc_symbol": "PET100", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:7694623-7696842", "ensembl_id": "ENSG00000229833" } }, "GRch38": { "90": { "location": "19:7629737-7631956", "ensembl_id": "ENSG00000229833" } } }, "hgnc_date_symbol_changed": "2012-06-25" }, "entity_type": "gene", "entity_name": "PET100", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "MetBioNet", "Expert Review Amber", "NHS GMS" ], "phenotypes": [ "Mitochondrial complex IV deficiency, 220110" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3270, "hash_id": null, "name": "Cardiomyopathy_Paediatric", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.", "status": "public", "version": "0.229", "version_created": "2026-03-31T18:53:53.165018+11:00", "relevant_disorders": [ "Cardiomyopathy", "HP:0001638;Abnormality of the myocardium", "HP:0001637" ], "stats": { "number_of_genes": 252, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "GAP1M" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9872", "gene_name": "RAS p21 protein activator 2", "omim_gene": [ "601589" ], "alias_name": null, "gene_symbol": "RASA2", "hgnc_symbol": "RASA2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:141205889-141334184", "ensembl_id": "ENSG00000155903" } }, "GRch38": { "90": { "location": "3:141487047-141615342", "ensembl_id": "ENSG00000155903" } } }, "hgnc_date_symbol_changed": "1996-11-15" }, "entity_type": "gene", "entity_name": "RASA2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "PMID: 25049390" ], "evidence": [ "Expert Review Amber", "London South GLH", "NHS GMS" ], "phenotypes": [ "Noonan syndrome MONDO:0018997, RASA2-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 3270, "hash_id": null, "name": "Cardiomyopathy_Paediatric", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.", "status": "public", "version": "0.229", "version_created": "2026-03-31T18:53:53.165018+11:00", "relevant_disorders": [ "Cardiomyopathy", "HP:0001638;Abnormality of the myocardium", "HP:0001637" ], "stats": { "number_of_genes": 252, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HSS", "MPS3A", "SFMD" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10818", "gene_name": "N-sulfoglucosamine sulfohydrolase", "omim_gene": [ "605270" ], "alias_name": [ "sulfamidase", "mucopolysaccharidosis type IIIA" ], "gene_symbol": "SGSH", "hgnc_symbol": "SGSH", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:78180515-78194722", "ensembl_id": "ENSG00000181523" } }, "GRch38": { "90": { "location": "17:80206716-80220923", "ensembl_id": "ENSG00000181523" } } }, "hgnc_date_symbol_changed": "1997-06-24" }, "entity_type": "gene", "entity_name": "SGSH", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27604308" ], "evidence": [ "MetBioNet", "Expert Review Amber", "NHS GMS" ], "phenotypes": [ "Mucopolysaccharidosis Type IIIA", "Mucopolysaccharidosis Type III", "MUCOPOLYSACCHARIDOSIS TYPE 3A", "MPS IIIA, Sanfilippo A disease (Mucopolysaccharidoses)", "Mucopolysaccharidosis, Type III" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3270, "hash_id": null, "name": "Cardiomyopathy_Paediatric", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.", "status": "public", "version": "0.229", "version_created": "2026-03-31T18:53:53.165018+11:00", "relevant_disorders": [ "Cardiomyopathy", "HP:0001638;Abnormality of the myocardium", "HP:0001637" ], "stats": { "number_of_genes": 252, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MGC14833", "bA6B20.2", "M19", "Cbp6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21237", "gene_name": "ubiquinol-cytochrome c reductase complex assembly factor 2", "omim_gene": [ "614461" ], "alias_name": [ "cytochrome B protein synthesis 6 homolog (S. cerevisiae)" ], "gene_symbol": "UQCC2", "hgnc_symbol": "UQCC2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:33662070-33679504", "ensembl_id": "ENSG00000137288" } }, "GRch38": { "90": { "location": "6:33694293-33711727", "ensembl_id": "ENSG00000137288" } } }, "hgnc_date_symbol_changed": "2013-09-20" }, "entity_type": "gene", "entity_name": "UQCC2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28804536", "24385928" ], "evidence": [ "MetBioNet", "Expert Review Amber", "NHS GMS" ], "phenotypes": [ "Mitochondrial complex III deficiency, nuclear type 7, 615824" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3270, "hash_id": null, "name": "Cardiomyopathy_Paediatric", "disease_group": "Cardiovascular disorders", "disease_sub_group": "", "description": "With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. 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It is maintained by VCGS.", "status": "public", "version": "0.229", "version_created": "2026-03-31T18:53:53.165018+11:00", "relevant_disorders": [ "Cardiomyopathy", "HP:0001638;Abnormality of the myocardium", "HP:0001637" ], "stats": { "number_of_genes": 252, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null } ] }