Gene Search List
Search Genes
GET /api/v1/genes/?format=api&page=274
{ "count": 35522, "next": "https://panelapp-aus.org/api/v1/genes/?format=api&page=275", "previous": "https://panelapp-aus.org/api/v1/genes/?format=api&page=273", "results": [ { "gene_data": { "alias": [ "PCB" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8636", "gene_name": "pyruvate carboxylase", "omim_gene": [ "608786" ], "alias_name": null, "gene_symbol": "PC", "hgnc_symbol": "PC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:66615704-66725847", "ensembl_id": "ENSG00000173599" } }, "GRch38": { "90": { "location": "11:66848233-66958376", "ensembl_id": "ENSG00000173599" } } }, "hgnc_date_symbol_changed": "1991-09-13" }, "entity_type": "gene", "entity_name": "PC", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Pyruvate carboxylase deficiency 266150" ], "mode_of_inheritance": "BIALLELIC, autosomal or 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"child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:8512", "gene_name": "ornithine carbamoyltransferase", "omim_gene": [ "300461" ], "alias_name": null, "gene_symbol": "OTC", "hgnc_symbol": "OTC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:38211798-38280703", "ensembl_id": "ENSG00000036473" } }, "GRch38": { "90": { "location": "X:38352545-38421450", "ensembl_id": "ENSG00000036473" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "OTC", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "2983225" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Ornithine transcarbamylase deficiency, 311250" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)", 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"transcript": null }, { "gene_data": { "alias": [ "HOGA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8091", "gene_name": "ornithine aminotransferase", "omim_gene": [ "613349" ], "alias_name": [ "Ornithine aminotransferase", "ornithine aminotransferase precursor", "gyrate atrophy" ], "gene_symbol": "OAT", "hgnc_symbol": "OAT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:126085872-126107545", "ensembl_id": "ENSG00000065154" } }, "GRch38": { "90": { "location": "10:124397303-124418976", "ensembl_id": "ENSG00000065154" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "OAT", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "33068755", "1618792", "2220818", "3339136", "3417397", "2916581", "1737786", "33463379" ], "evidence": [ "Expert Review Red", "Genomics England PanelApp" ], "phenotypes": [ "Gyrate atrophy of choroid and retina with or without ornithinemia\t258870" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3470, "hash_id": null, "name": "Hyperammonaemia", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel contains genes associated with urea cycle disorders and other metabolic conditions that cause hyperammonaemia.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "0.10", "version_created": "2023-03-02T14:41:08.610876+11:00", "relevant_disorders": [ "Hyperammonaemia", "HP:0001987" ], "stats": { "number_of_genes": 43, "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." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "AGAS", "ARGA", "NAT7" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17996", "gene_name": "N-acetylglutamate synthase", "omim_gene": [ "608300" ], "alias_name": null, "gene_symbol": "NAGS", "hgnc_symbol": "NAGS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:42081914-42086431", "ensembl_id": "ENSG00000161653" } }, "GRch38": { "90": { "location": "17:44004546-44009063", "ensembl_id": "ENSG00000161653" } } }, "hgnc_date_symbol_changed": "2004-12-03" }, "entity_type": "gene", "entity_name": "NAGS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "N-acetylglutamate synthase deficiency\t237310" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3470, "hash_id": null, "name": "Hyperammonaemia", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel contains genes associated with urea cycle disorders and other metabolic conditions that cause hyperammonaemia.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "0.10", "version_created": "2023-03-02T14:41:08.610876+11:00", "relevant_disorders": [ "Hyperammonaemia", "HP:0001987" ], "stats": { "number_of_genes": 43, "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." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:7526", "gene_name": "methylmalonyl-CoA mutase", "omim_gene": [ "609058" ], "alias_name": null, "gene_symbol": "MUT", "hgnc_symbol": "MUT", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:49398073-49430904", "ensembl_id": "ENSG00000146085" } }, "GRch38": { "90": { "location": "6:49430360-49463191", "ensembl_id": "ENSG00000146085" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "MUT", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Expert Review Green", "Genomics England PanelApp", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Methylmalonic aciduria, mut(0) type 251000" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3470, "hash_id": null, "name": "Hyperammonaemia", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel contains genes associated with urea cycle disorders and other metabolic conditions that cause hyperammonaemia.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "0.10", "version_created": "2023-03-02T14:41:08.610876+11:00", "relevant_disorders": [ "Hyperammonaemia", "HP:0001987" ], "stats": { "number_of_genes": 43, "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." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "cblB", "CFAP23" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19331", "gene_name": "methylmalonic aciduria (cobalamin deficiency) cblB type", "omim_gene": [ "607568" ], "alias_name": [ "ATP:cob(I)alamin adenosyltransferase", "cilia and flagella associated protein 23" ], "gene_symbol": "MMAB", "hgnc_symbol": "MMAB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:109991542-110011679", "ensembl_id": "ENSG00000139428" } }, "GRch38": { "90": { "location": "12:109553737-109573874", "ensembl_id": "ENSG00000139428" } } }, "hgnc_date_symbol_changed": "2003-02-11" }, "entity_type": "gene", "entity_name": "MMAB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Expert Review Green", "Genomics England PanelApp", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type 251110" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "panel": { "id": 3470, "hash_id": null, "name": "Hyperammonaemia", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel contains genes associated with urea cycle disorders and other metabolic conditions that cause hyperammonaemia.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "0.10", "version_created": "2023-03-02T14:41:08.610876+11:00", "relevant_disorders": [ "Hyperammonaemia", "HP:0001987" ], "stats": { "number_of_genes": 43, "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." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "cblA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18871", "gene_name": "methylmalonic aciduria (cobalamin deficiency) cblA type", "omim_gene": [ "607481" ], "alias_name": null, "gene_symbol": "MMAA", "hgnc_symbol": "MMAA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:146539415-146581187", "ensembl_id": "ENSG00000151611" } }, "GRch38": { "90": { "location": "4:145618263-145660035", "ensembl_id": "ENSG00000151611" } } }, "hgnc_date_symbol_changed": "2003-02-11" }, "entity_type": "gene", "entity_name": "MMAA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15523652", "12438653" ], "evidence": [ "Expert Review Green", "Expert Review Green", "Genomics England PanelApp", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Methylmalonic aciduria, vitamin B12-responsive 251100" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "panel": { "id": 3470, "hash_id": null, "name": "Hyperammonaemia", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel contains genes associated with urea cycle disorders and other metabolic conditions that cause hyperammonaemia.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "0.10", "version_created": "2023-03-02T14:41:08.610876+11:00", "relevant_disorders": [ "Hyperammonaemia", "HP:0001987" ], "stats": { "number_of_genes": 43, "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." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MCD", "hMCD" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7150", "gene_name": "malonyl-CoA decarboxylase", "omim_gene": [ "606761" ], "alias_name": null, "gene_symbol": "MLYCD", "hgnc_symbol": "MLYCD", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:83932731-83949787", "ensembl_id": "ENSG00000103150" } }, "GRch38": { "90": { "location": "16:83899126-83927026", "ensembl_id": "ENSG00000103150" } } }, "hgnc_date_symbol_changed": "2000-02-11" }, "entity_type": "gene", "entity_name": "MLYCD", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "10455107", "10417274", "12955715" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Malonyl-CoA decarboxylase deficiency\t248360", "malonic aciduria" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "panel": { "id": 3470, "hash_id": null, "name": "Hyperammonaemia", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel contains genes associated with urea cycle disorders and other metabolic conditions that cause hyperammonaemia.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "0.10", "version_created": "2023-03-02T14:41:08.610876+11:00", "relevant_disorders": [ "Hyperammonaemia", "HP:0001987" ], "stats": { "number_of_genes": 43, "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." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ACAD2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6186", "gene_name": "isovaleryl-CoA dehydrogenase", "omim_gene": [ "607036" ], "alias_name": null, "gene_symbol": "IVD", "hgnc_symbol": "IVD", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:40697686-40728146", "ensembl_id": "ENSG00000128928" } }, "GRch38": { "90": { "location": "15:40405795-40435947", "ensembl_id": "ENSG00000128928" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "IVD", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23063737", "26018748", "24019846", "23587913", "15486829" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Isovaleric acidaemia, MIM# 243500" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "panel": { "id": 3470, "hash_id": null, "name": "Hyperammonaemia", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel contains genes associated with urea cycle disorders and other metabolic conditions that cause hyperammonaemia.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "0.10", "version_created": "2023-03-02T14:41:08.610876+11:00", "relevant_disorders": [ "Hyperammonaemia", "HP:0001987" ], "stats": { "number_of_genes": 43, "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." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HL" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5005", "gene_name": "3-hydroxymethyl-3-methylglutaryl-CoA lyase", "omim_gene": [ "613898" ], "alias_name": [ "hydroxymethylglutaricaciduria" ], "gene_symbol": "HMGCL", "hgnc_symbol": "HMGCL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:24128375-24165110", "ensembl_id": "ENSG00000117305" } }, "GRch38": { "90": { "location": "1:23801885-23838620", "ensembl_id": "ENSG00000117305" } } }, "hgnc_date_symbol_changed": "1993-12-13" }, "entity_type": "gene", "entity_name": "HMGCL", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "treatable" ], "panel": { "id": 3470, "hash_id": null, "name": "Hyperammonaemia", "disease_group": "Metabolic disorders", "disease_sub_group": "", "description": "This panel contains genes associated with urea cycle disorders and other metabolic conditions that cause hyperammonaemia.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "0.10", "version_created": "2023-03-02T14:41:08.610876+11:00", "relevant_disorders": [ "Hyperammonaemia", "HP:0001987" ], "stats": { "number_of_genes": 43, "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." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ10618", "PNC2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25554", "gene_name": "solute carrier family 25 member 36", "omim_gene": [ "616149" ], "alias_name": null, "gene_symbol": "SLC25A36", "hgnc_symbol": "SLC25A36", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:140660672-140698775", "ensembl_id": "ENSG00000114120" } }, "GRch38": { "90": { "location": "3:140941830-140979933", "ensembl_id": "ENSG00000114120" } } }, "hgnc_date_symbol_changed": "2005-06-03" }, "entity_type": "gene", "entity_name": "SLC25A36", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34971397", "34576089", "31036718" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Hyperinsulinemic hypoglycemia, familial, 8 - MIM#620211" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3470, "hash_id": null, "name": "Hyperammonaemia", "disease_group": "Metabolic disorders", 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"transcript": null }, { "gene_data": { "alias": [ "PY160", "IRS-4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6128", "gene_name": "insulin receptor substrate 4", "omim_gene": [ "300904" ], "alias_name": null, "gene_symbol": "IRS4", "hgnc_symbol": "IRS4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:107975712-107979651", "ensembl_id": "ENSG00000133124" } }, "GRch38": { "90": { "location": "X:108732482-108736409", "ensembl_id": "ENSG00000133124" } } }, "hgnc_date_symbol_changed": "1998-11-24" }, "entity_type": "gene", "entity_name": "IRS4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30061370", "10644546" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Hypothyroidism, congenital, nongoitrous, 9, MIM# 301035" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 3471, "hash_id": 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"transcript": null }, { "gene_data": { "alias": [ "dJ422F24.1", "DEHAL1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21071", "gene_name": "iodotyrosine deiodinase", "omim_gene": [ "612025" ], "alias_name": null, "gene_symbol": "IYD", "hgnc_symbol": "IYD", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:150690028-150727105", "ensembl_id": "ENSG00000009765" } }, "GRch38": { "90": { "location": "6:150368892-150405969", "ensembl_id": "ENSG00000009765" } } }, "hgnc_date_symbol_changed": "2006-08-24" }, "entity_type": "gene", "entity_name": "IYD", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24629858 (Review)", "18765512", "PMID:18434651 (Moreno et al., 2008): 2 missense mutations and a 3bp deletion were identified in 4 patients with hypothryoidism from 3 unrelated families", "PMID:22535972 (Burniat et al., 2012) identified a homozygous IYD mutation in a child born to first-cousins. 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"description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CNC1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9388", "gene_name": "protein kinase cAMP-dependent type I regulatory subunit alpha", "omim_gene": [ "188830" ], "alias_name": [ "Carney complex type 1" ], "gene_symbol": "PRKAR1A", "hgnc_symbol": "PRKAR1A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:66507921-66547460", "ensembl_id": "ENSG00000108946" } }, "GRch38": { "90": { "location": "17:68511780-68551319", "ensembl_id": "ENSG00000108946" } } }, "hgnc_date_symbol_changed": "1988-05-11" }, "entity_type": "gene", "entity_name": "PRKAR1A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other - please provide details in the comments", "publications": [ "22464250", "21651393" ], "evidence": [ "Genomics England PanelApp", "Expert Review Green" ], "phenotypes": [ "Acrodysostosis, mild hormone resistance 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{ "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TGN", "AITD3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11764", "gene_name": "thyroglobulin", "omim_gene": [ "188450" ], "alias_name": null, "gene_symbol": "TG", "hgnc_symbol": "TG", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:133879203-134147147", "ensembl_id": "ENSG00000042832" } }, "GRch38": { "90": { "location": "8:132866958-133134903", "ensembl_id": "ENSG00000042832" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "TG", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27525530 (Nicholas et al.,2016) identify a monogenic and polygenic basis of disease.", "23164529" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "Expert 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"number_of_regions": 1 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4174", "gene_name": "GATA binding protein 6", "omim_gene": [ "601656" ], "alias_name": null, "gene_symbol": "GATA6", "hgnc_symbol": "GATA6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:19749404-19782491", "ensembl_id": "ENSG00000141448" } }, "GRch38": { "90": { "location": "18:22169443-22202528", "ensembl_id": "ENSG00000141448" } } }, "hgnc_date_symbol_changed": "1996-10-11" }, "entity_type": "gene", "entity_name": "GATA6", "confidence_level": "3", 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"name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "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": [ "HuF2", "ZGRF6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12398", "gene_name": "transcription termination factor 2", "omim_gene": [ "604718" ], "alias_name": [ "zinc finger, GRF-type containing 6", "transcription release factor 2" ], "gene_symbol": "TTF2", "hgnc_symbol": "TTF2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:117602925-117650075", "ensembl_id": "ENSG00000116830" } }, "GRch38": { "90": { "location": "1:117060303-117107453", "ensembl_id": "ENSG00000116830" } } }, "hgnc_date_symbol_changed": "1998-10-14" }, "entity_type": "gene", "entity_name": "TTF2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 30022773" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "congenital hypothyroidism, thyroid dysgenesis, No OMIM #" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3471, "hash_id": null, "name": "Congenital hypothyroidism", "disease_group": "Endocrine disorders", "disease_sub_group": "Thyroid disorders", "description": "This panel contains genes associated with congenital hypothyroidism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'congenital hypothyroidism' panel V3.1, with all discrepancies reviewed and resolved (November 2025).", "status": "public", "version": "0.120", "version_created": "2026-04-02T11:51:29.895216+11:00", "relevant_disorders": [ "Hypothyroidism HP:0000821" ], "stats": { "number_of_genes": 63, "number_of_strs": 1, "number_of_regions": 1 }, "types": [ { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "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": [ "BPTP3", "SH-PTP2", "SHP-2", "PTP2C", "SHP2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9644", "gene_name": "protein tyrosine phosphatase, non-receptor type 11", "omim_gene": [ "176876" ], "alias_name": null, "gene_symbol": "PTPN11", "hgnc_symbol": "PTPN11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:112856155-112947717", "ensembl_id": "ENSG00000179295" } }, "GRch38": { "90": { "location": "12:112418351-112509913", "ensembl_id": "ENSG00000179295" } } }, "hgnc_date_symbol_changed": "1993-03-03" }, "entity_type": "gene", "entity_name": "PTPN11", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "Mosaic case series shortly to be published by Kinsler group" ], "evidence": [ "Expert Review Red", "Genomics England PanelApp", "NHS GMS" ], "phenotypes": [ "Noonan syndrome", "Noonan syndrome with lentigines (LEOPARD)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3472, "hash_id": null, "name": "Mosaic skin disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause skin disorders as a result of somatic mutations and is suitable for use when affected tissue is being tested.\r\n\r\nPlease also refer to the Vascular Malformations_Somatic and Vascular Malformations_Germline panels for genes associated predominantly with vascular malformations of the skin.\r\n\r\nWith thanks to Genomics 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"12970318", "15126527", "10646121", "1594625", "1944469" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "NHS GMS" ], "phenotypes": [ "McCune-Albright syndrome" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [ "somatic" ], "panel": { "id": 3472, "hash_id": null, "name": "Mosaic skin disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause skin disorders as a result of somatic mutations and is suitable for use when affected tissue is being tested.\r\n\r\nPlease also refer to the Vascular Malformations_Somatic and Vascular Malformations_Germline panels for genes associated predominantly with vascular malformations of the skin.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.15", "version_created": "2025-11-28T10:17:48.863556+11:00", "relevant_disorders": [ 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], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4382", "gene_name": "G protein subunit alpha 14", "omim_gene": [ "604397" ], "alias_name": null, "gene_symbol": "GNA14", "hgnc_symbol": "GNA14", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:80037995-80263223", "ensembl_id": "ENSG00000156049" } }, "GRch38": { "90": { "location": "9:77423079-77648307", "ensembl_id": "ENSG00000156049" } } }, "hgnc_date_symbol_changed": "1999-06-10" }, "entity_type": "gene", "entity_name": "GNA14", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27476652" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "NHS GMS" ], "phenotypes": [ "Kaposiform endothelioma", "Tufted angioma" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "somatic" ], "panel": { "id": 3472, "hash_id": null, "name": 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Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:5382", "gene_name": "isocitrate dehydrogenase (NADP(+)) 1, cytosolic", "omim_gene": [ "147700" ], "alias_name": null, "gene_symbol": "IDH1", "hgnc_symbol": "IDH1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:209100951-209130798", "ensembl_id": "ENSG00000138413" } }, "GRch38": { "90": { "location": "2:208236227-208266074", "ensembl_id": "ENSG00000138413" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "IDH1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22057234" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "NHS GMS" ], "phenotypes": [ "Maffucci syndrome", "Ollier disease" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "somatic" ], "panel": { "id": 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"victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Tasmanian Clinical Genetics Service", "slug": "tasmanian-clinical-genetics-service", "description": "Tasmanian Clinical Genetics Service" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TIE2", "TIE-2", "VMCM1", "CD202b" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11724", "gene_name": "TEK receptor tyrosine kinase", "omim_gene": [ "600221" ], "alias_name": null, "gene_symbol": "TEK", "hgnc_symbol": "TEK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:27109139-27230173", "ensembl_id": "ENSG00000120156" } }, "GRch38": { "90": { "location": "9:27109141-27230175", "ensembl_id": "ENSG00000120156" } } }, "hgnc_date_symbol_changed": "1994-05-24" }, "entity_type": "gene", "entity_name": "TEK", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27519652" ], "evidence": [ "Expert Review Amber", "Genomics England PanelApp", "NHS GMS" ], "phenotypes": [ "Venous malformations, multiple cutaneous and mucosal, 600195" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 3472, "hash_id": null, "name": "Mosaic skin disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause skin disorders as a result of somatic mutations and is suitable for use when affected tissue is being tested.\r\n\r\nPlease also refer to the Vascular Malformations_Somatic and Vascular Malformations_Germline panels for genes associated predominantly with vascular malformations of the skin.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.15", "version_created": "2025-11-28T10:17:48.863556+11:00", "relevant_disorders": [ "Abnormality of skin pigmentation", "HP:0001000" ], "stats": { "number_of_genes": 44, "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." }, { "name": "Tasmanian Clinical Genetics Service", "slug": "tasmanian-clinical-genetics-service", "description": "Tasmanian Clinical Genetics Service" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KRAS1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6407", "gene_name": "KRAS proto-oncogene, GTPase", "omim_gene": [ "190070" ], "alias_name": null, "gene_symbol": "KRAS", "hgnc_symbol": "KRAS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:25357723-25403870", "ensembl_id": "ENSG00000133703" } }, "GRch38": { "90": { "location": "12:25204789-25250936", "ensembl_id": "ENSG00000133703" } } }, "hgnc_date_symbol_changed": "2005-01-24" }, "entity_type": "gene", "entity_name": "KRAS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22499344", "22683711" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "NHS GMS" ], "phenotypes": [ "Epidermal naevi", "Schimmelpenning syndrome" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "somatic" ], "panel": { "id": 3472, "hash_id": null, "name": "Mosaic skin disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause skin disorders as a result of somatic mutations and is suitable for use when affected tissue is being tested.\r\n\r\nPlease 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Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KRT1A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6412", "gene_name": "keratin 1", "omim_gene": [ "139350" ], "alias_name": null, "gene_symbol": "KRT1", "hgnc_symbol": "KRT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:53068520-53074191", "ensembl_id": "ENSG00000167768" } }, "GRch38": { "90": { "location": "12:52674736-52680407", "ensembl_id": "ENSG00000167768" } } }, "hgnc_date_symbol_changed": "1991-09-12" }, "entity_type": "gene", "entity_name": "KRT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28532675", "17255957" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "NHS GMS" ], "phenotypes": [ "Ichthyosis histrix", "Epidermolytic hyperkeratosis", "Palmoplantar keratoderma" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ 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"confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25495838", "29135017" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "NHS GMS" ], "phenotypes": [ "Epidermolytic hyperkeratosis", "Pachyonychia congenita", "Ichythosis with confetti", "Palmoplantar keratoderma" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3472, "hash_id": null, "name": "Mosaic skin disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause skin disorders as a result of somatic mutations and is suitable for use when affected tissue is being tested.\r\n\r\nPlease also refer to the Vascular Malformations_Somatic and Vascular Malformations_Germline panels for genes associated predominantly with vascular malformations of the skin.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", 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"royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MAPKKK3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6855", "gene_name": "mitogen-activated protein kinase kinase kinase 3", "omim_gene": [ "602539" ], "alias_name": [ "MAP/ERK kinase kinase 3", "MAPK/ERK kinase kinase 3" ], "gene_symbol": "MAP3K3", "hgnc_symbol": "MAP3K3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:61699775-61773663", "ensembl_id": "ENSG00000198909" } }, "GRch38": { "90": { "location": "17:63622415-63696303", "ensembl_id": "ENSG00000198909" } } }, "hgnc_date_symbol_changed": "1997-11-14" }, "entity_type": "gene", "entity_name": "MAP3K3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25728774" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp", "NHS GMS" ], "phenotypes": [ "Verrucous haemangiomas" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [ "somatic" ], "panel": { "id": 3472, "hash_id": null, "name": "Mosaic skin disorders", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel contains genes that cause skin disorders as a result of somatic mutations and is suitable for use when affected tissue is being tested.\r\n\r\nPlease also refer to the Vascular Malformations_Somatic and Vascular Malformations_Germline panels for genes associated predominantly with vascular malformations of the skin.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.", "status": "public", "version": "1.15", "version_created": "2025-11-28T10:17:48.863556+11:00", "relevant_disorders": [ "Abnormality of skin pigmentation", "HP:0001000" ], "stats": { "number_of_genes": 44, "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." }, { "name": "Tasmanian Clinical Genetics Service", "slug": "tasmanian-clinical-genetics-service", "description": "Tasmanian Clinical Genetics Service" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "RAFT1", "RAPT1", "FLJ44809" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3942", "gene_name": "mechanistic target of rapamycin kinase", "omim_gene": [ "601231" ], "alias_name": [ "FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", 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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." }, { "name": "Tasmanian Clinical Genetics Service", "slug": "tasmanian-clinical-genetics-service", "description": "Tasmanian Clinical Genetics Service" }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "merlin", "ACN", "SCH", "BANF" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7773", "gene_name": "neurofibromin 2", "omim_gene": [ "607379" ], "alias_name": [ "moesin-ezrin-radixin like", "schwannomin" ], "gene_symbol": "NF2", "hgnc_symbol": "NF2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:29999545-30094587", "ensembl_id": "ENSG00000186575" } }, "GRch38": { "90": { 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