Gene Search List
Search Genes
GET /api/v1/genes/?format=api&page=268
{ "count": 35522, "next": "https://panelapp-aus.org/api/v1/genes/?format=api&page=269", "previous": "https://panelapp-aus.org/api/v1/genes/?format=api&page=267", "results": [ { "gene_data": { "alias": [ "eIF3-epsilon", "eIF3-p47", "eIF3f" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3275", "gene_name": "eukaryotic translation initiation factor 3 subunit F", "omim_gene": [ "603914" ], "alias_name": null, "gene_symbol": "EIF3F", "hgnc_symbol": "EIF3F", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:7991798-8023409", "ensembl_id": "ENSG00000175390" } }, "GRch38": { "90": { "location": "11:7970251-8001862", "ensembl_id": "ENSG00000175390" } } }, "hgnc_date_symbol_changed": "2007-07-27" }, "entity_type": "gene", "entity_name": "EIF3F", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 33736665" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "EIF3F-related neurodevelopmental disorder", "Mental retardation, autosomal recessive 67, MIM#\t618295" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3368, "hash_id": null, "name": "Clefting disorders", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "Dysmorphic disorders", "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.", "status": "public", "version": "0.312", "version_created": "2026-02-24T14:38:08.760295+11:00", "relevant_disorders": [ "Oral cleft HP:0000202" ], "stats": { "number_of_genes": 314, "number_of_strs": 2, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "ZFH4", "FLJ20980" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30939", "gene_name": "zinc finger homeobox 4", "omim_gene": [ "606940" ], "alias_name": null, "gene_symbol": "ZFHX4", "hgnc_symbol": "ZFHX4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:77593454-77779521", "ensembl_id": "ENSG00000091656" } }, "GRch38": { "90": { "location": "8:76681219-76867285", "ensembl_id": "ENSG00000091656" } } }, "hgnc_date_symbol_changed": "2004-07-22" }, "entity_type": "gene", "entity_name": "ZFHX4", "confidence_level": "3", "penetrance": "Incomplete", "mode_of_pathogenicity": null, "publications": [ "PMID: 40367947" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "neurodevelopmental disorder, ZFHX4-related (MONDO:0700092)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3368, "hash_id": null, "name": "Clefting disorders", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "Dysmorphic disorders", "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.", "status": "public", "version": "0.312", "version_created": "2026-02-24T14:38:08.760295+11:00", "relevant_disorders": [ "Oral cleft HP:0000202" ], "stats": { "number_of_genes": 314, "number_of_strs": 2, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "TAFII28" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11544", "gene_name": "TATA-box binding protein associated factor 11", "omim_gene": [ "600772" ], "alias_name": null, "gene_symbol": "TAF11", "hgnc_symbol": "TAF11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:34845555-34855866", "ensembl_id": "ENSG00000064995" } }, "GRch38": { "90": { "location": "6:34877778-34888089", "ensembl_id": "ENSG00000064995" } } }, "hgnc_date_symbol_changed": "2001-12-07" }, "entity_type": "gene", "entity_name": "TAF11", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39727181" ], "evidence": [ "Expert Review Red", "Literature" ], "phenotypes": [ "cleft lip MONDO:0004747" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3368, "hash_id": null, "name": "Clefting disorders", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "Dysmorphic disorders", "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.", "status": "public", "version": "0.312", "version_created": "2026-02-24T14:38:08.760295+11:00", "relevant_disorders": [ "Oral cleft HP:0000202" ], "stats": { "number_of_genes": 314, "number_of_strs": 2, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DRIP92", "TRAP95" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17556", "gene_name": "mediator complex subunit 16", "omim_gene": [ "604062" ], "alias_name": null, "gene_symbol": "MED16", "hgnc_symbol": "MED16", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:867962-893218", "ensembl_id": "ENSG00000175221" } }, "GRch38": { "90": { "location": "19:867630-893218", "ensembl_id": "ENSG00000175221" } } }, "hgnc_date_symbol_changed": "2007-07-30" }, "entity_type": "gene", "entity_name": "MED16", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40081376" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Guillouet-Gordon syndrome MIM#621220" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3368, "hash_id": null, "name": "Clefting disorders", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "Dysmorphic disorders", "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.", "status": "public", "version": "0.312", "version_created": "2026-02-24T14:38:08.760295+11:00", "relevant_disorders": [ "Oral cleft HP:0000202" ], "stats": { "number_of_genes": 314, "number_of_strs": 2, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "IGFBP8", "CCN2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2500", "gene_name": "connective tissue growth factor", "omim_gene": [ "121009" ], "alias_name": null, "gene_symbol": "CTGF", "hgnc_symbol": "CTGF", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:132269316-132272513", "ensembl_id": "ENSG00000118523" } }, "GRch38": { "90": { "location": "6:131948176-131951373", "ensembl_id": "ENSG00000118523" } } }, "hgnc_date_symbol_changed": "1992-12-01" }, "entity_type": "gene", "entity_name": "CTGF", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39506047", "39414788", "12736220" ], "evidence": [ "Expert Review Amber", "Expert Review" ], "phenotypes": [ "Kyphomelic dysplasia, OMIM:211350", "kyphomelic dysplasia, MONDO:0008881", "spondyloepimetaphyseal dysplasia, MONDO:0100510" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3368, "hash_id": null, "name": "Clefting disorders", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "Dysmorphic disorders", "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.", "status": "public", "version": "0.312", "version_created": "2026-02-24T14:38:08.760295+11:00", "relevant_disorders": [ "Oral cleft HP:0000202" ], "stats": { "number_of_genes": 314, "number_of_strs": 2, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "RX" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18662", "gene_name": "retina and anterior neural fold homeobox", "omim_gene": [ "601881" ], "alias_name": null, "gene_symbol": "RAX", "hgnc_symbol": "RAX", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:56934267-56941318", "ensembl_id": "ENSG00000134438" } }, "GRch38": { "90": { "location": "18:59267035-59274086", "ensembl_id": "ENSG00000134438" } } }, "hgnc_date_symbol_changed": "2002-05-22" }, "entity_type": "gene", "entity_name": "RAX", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30811539, 40321348" ], "evidence": [ "Expert Review Amber", "Literature", "Literature" ], "phenotypes": [ "Microphthalmia, syndromic 16, MIM#611038" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3368, "hash_id": null, "name": "Clefting disorders", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "Dysmorphic disorders", "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.", "status": "public", "version": "0.312", "version_created": "2026-02-24T14:38:08.760295+11:00", "relevant_disorders": [ "Oral cleft HP:0000202" ], "stats": { "number_of_genes": 314, "number_of_strs": 2, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CDON2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17173", "gene_name": "BOC cell adhesion associated, oncogene regulated", "omim_gene": [ "608708" ], "alias_name": [ "brother of CDO", "brother of CDON", "cell adhesion associated, oncogene regulated 2" ], "gene_symbol": "BOC", "hgnc_symbol": "BOC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:112929850-113006303", "ensembl_id": "ENSG00000144857" } }, "GRch38": { "90": { "location": "3:113211003-113287459", "ensembl_id": "ENSG00000144857" } } }, "hgnc_date_symbol_changed": "2006-02-02" }, "entity_type": "gene", "entity_name": "BOC", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40464334", "28677295" ], "evidence": [ "Expert Review Red", "Literature", "Literature" ], "phenotypes": [ "Orofacial clefting, MONDO:0000358, BOC-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 3368, "hash_id": null, "name": "Clefting disorders", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "Dysmorphic disorders", "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.", "status": "public", "version": "0.312", "version_created": "2026-02-24T14:38:08.760295+11:00", "relevant_disorders": [ "Oral cleft HP:0000202" ], "stats": { "number_of_genes": 314, "number_of_strs": 2, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [ "Orofacial cleft, MONDO:0000358, BOC-related" ] }, { "gene_data": { "alias": [ "MGC10731" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28127", "gene_name": "REM2 and RAB like small GTPase 1", "omim_gene": null, "alias_name": [ "Rem/Rab-Similar GTPase 1" ], "gene_symbol": "RSG1", "hgnc_symbol": "RSG1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:16558195-16563657", "ensembl_id": "ENSG00000132881" } }, "GRch38": { "90": { "location": "1:16231700-16237162", "ensembl_id": "ENSG00000132881" } } }, "hgnc_date_symbol_changed": "2011-02-22" }, "entity_type": "gene", "entity_name": "RSG1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40593758" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Ciliopathy, MONDO:0005308, RSG1-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3368, "hash_id": null, "name": "Clefting disorders", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "Dysmorphic disorders", "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.", "status": "public", "version": "0.312", "version_created": "2026-02-24T14:38:08.760295+11:00", "relevant_disorders": [ "Oral cleft HP:0000202" ], "stats": { "number_of_genes": 314, "number_of_strs": 2, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "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:13869", "gene_name": "lysyl oxidase like 3", "omim_gene": [ "607163" ], "alias_name": null, "gene_symbol": "LOXL3", "hgnc_symbol": "LOXL3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:74759541-74782817", "ensembl_id": "ENSG00000115318" } }, "GRch38": { "90": { "location": "2:74532414-74555690", "ensembl_id": "ENSG00000115318" } } }, "hgnc_date_symbol_changed": "2001-06-27" }, "entity_type": "gene", "entity_name": "LOXL3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "25663169", "26307084", "26957899", "29802726", "30362103", "34787502", "41052910" ], "evidence": [ "Expert Review Green", "Literature", "Literature", "Literature", "Literature" ], "phenotypes": [ "Stickler syndrome, MONDO:0019354, LOXL3-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3368, "hash_id": null, "name": "Clefting disorders", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "Dysmorphic disorders", "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.", "status": "public", "version": "0.312", "version_created": "2026-02-24T14:38:08.760295+11:00", "relevant_disorders": [ "Oral cleft HP:0000202" ], "stats": { "number_of_genes": 314, "number_of_strs": 2, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "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:14630", "gene_name": "cysteine rich with EGF like domains 1", "omim_gene": [ "607170" ], "alias_name": null, "gene_symbol": "CRELD1", "hgnc_symbol": "CRELD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:9975506-9987097", "ensembl_id": "ENSG00000163703" } }, "GRch38": { "90": { "location": "3:9933822-9945413", "ensembl_id": "ENSG00000163703" } } }, "hgnc_date_symbol_changed": "2001-02-16" }, "entity_type": "gene", "entity_name": "CRELD1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "37947183" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Jeffries-Lakhani neurodevelopmental syndrome, MIM# 620771" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3368, "hash_id": null, "name": "Clefting disorders", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "Dysmorphic disorders", "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.", "status": "public", "version": "0.312", "version_created": "2026-02-24T14:38:08.760295+11:00", "relevant_disorders": [ "Oral cleft HP:0000202" ], "stats": { "number_of_genes": 314, "number_of_strs": 2, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "PKCI" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9404", "gene_name": "protein kinase C iota", "omim_gene": [ "600539" ], "alias_name": null, "gene_symbol": "PRKCI", "hgnc_symbol": "PRKCI", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:169940153-170023769", "ensembl_id": "ENSG00000163558" } }, "GRch38": { "90": { "location": "3:170222365-170305981", "ensembl_id": "ENSG00000163558" } } }, "hgnc_date_symbol_changed": "1994-07-06" }, "entity_type": "gene", "entity_name": "PRKCI", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40902599" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Van der Woude syndrome MONDO:0019508, PRKCI-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3368, "hash_id": null, "name": "Clefting disorders", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "Dysmorphic disorders", "description": "This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.", "status": "public", "version": "0.312", "version_created": "2026-02-24T14:38:08.760295+11:00", "relevant_disorders": [ "Oral cleft HP:0000202" ], "stats": { "number_of_genes": 314, "number_of_strs": 2, "number_of_regions": 5 }, "types": [ { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HsT2651", "CTS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12405", "gene_name": "transthyretin", "omim_gene": [ "176300" ], "alias_name": null, "gene_symbol": "TTR", "hgnc_symbol": "TTR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:29171689-29178974", "ensembl_id": "ENSG00000118271" } }, "GRch38": { "90": { "location": "18:31591726-31599021", "ensembl_id": "ENSG00000118271" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "TTR", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "31590893", "26522458", "8784093" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "DTTRH", "[Dystransthyretinemic hyperthyroxinemia], 145680" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 3372, "hash_id": null, "name": "Hyperthyroidism", "disease_group": "Endocrine disorders", "disease_sub_group": "Thyroid disorders", "description": "This panel contains genes associated with hyperthyroidism. \r\n\r\nIt has been compared against the Genomics England PanelApp 'hyperthyroidism' panel V3.4, with all discrepancies reviewed and resolved (August 2025).", "status": "public", "version": "0.25", "version_created": "2026-02-05T10:59:28.634960+11:00", "relevant_disorders": [ "Hyperthyroidism HP:0000836" ], "stats": { "number_of_genes": 8, "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" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:399", "gene_name": "albumin", "omim_gene": [ "103600" ], "alias_name": null, "gene_symbol": "ALB", "hgnc_symbol": "ALB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:74262831-74287129", "ensembl_id": "ENSG00000163631" } }, "GRch38": { "90": { "location": "4:73397114-73421412", "ensembl_id": "ENSG00000163631" } } }, "hgnc_date_symbol_changed": "2006-06-30" }, "entity_type": "gene", "entity_name": "ALB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "29163366", "24646103", "8064810", "27834068", "32635414" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Familial dysalbuminaemic hyperthyroxinaemia", "[Dysalbuminemic hyperthyroxinemia], 615999" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 3372, "hash_id": null, "name": "Hyperthyroidism", "disease_group": "Endocrine disorders", "disease_sub_group": "Thyroid disorders", "description": "This panel contains genes associated with hyperthyroidism. \r\n\r\nIt has been compared against the Genomics England PanelApp 'hyperthyroidism' panel V3.4, with all discrepancies reviewed and resolved (August 2025).", "status": "public", "version": "0.25", "version_created": "2026-02-05T10:59:28.634960+11:00", "relevant_disorders": [ "Hyperthyroidism HP:0000836" ], "stats": { "number_of_genes": 8, "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" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SBP2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30972", "gene_name": "SECIS binding protein 2", "omim_gene": [ "607693" ], "alias_name": [ "Sec insertion sequence-binding protein 2" ], "gene_symbol": "SECISBP2", "hgnc_symbol": "SECISBP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:91933421-91974557", "ensembl_id": "ENSG00000187742" } }, "GRch38": { "90": { "location": "9:89318506-89359662", "ensembl_id": "ENSG00000187742" } } }, "hgnc_date_symbol_changed": "2004-05-10" }, "entity_type": "gene", "entity_name": "SECISBP2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22986150", "24629861", "19602558", "22247018", "20501692", "16228000", "21084748" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Thyroid hormone metabolism, abnormal, MIM#\t609698" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3372, "hash_id": null, "name": "Hyperthyroidism", "disease_group": "Endocrine disorders", "disease_sub_group": "Thyroid disorders", "description": "This panel contains genes associated with hyperthyroidism. \r\n\r\nIt has been compared against the Genomics England PanelApp 'hyperthyroidism' panel V3.4, with all discrepancies reviewed and resolved (August 2025).", "status": "public", "version": "0.25", "version_created": "2026-02-05T10:59:28.634960+11:00", "relevant_disorders": [ "Hyperthyroidism HP:0000836" ], "stats": { "number_of_genes": 8, "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" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "XPCT", "MCT8", "MCT7" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10923", "gene_name": "solute carrier family 16 member 2", "omim_gene": [ "300095" ], "alias_name": null, "gene_symbol": "SLC16A2", "hgnc_symbol": "SLC16A2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:73641085-73753752", "ensembl_id": "ENSG00000147100" } }, "GRch38": { "90": { "location": "X:74421461-74533917", "ensembl_id": "ENSG00000147100" } } }, "hgnc_date_symbol_changed": "1994-04-22" }, "entity_type": "gene", "entity_name": "SLC16A2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24847459", "25517855", "21098685", "31410843" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Allan-Herndon-Dudley syndrome, MIM#\t300523" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 3372, "hash_id": null, "name": "Hyperthyroidism", "disease_group": "Endocrine disorders", "disease_sub_group": "Thyroid disorders", "description": "This panel contains genes associated with hyperthyroidism. \r\n\r\nIt has been compared against the Genomics England PanelApp 'hyperthyroidism' panel V3.4, with all discrepancies reviewed and resolved (August 2025).", "status": "public", "version": "0.25", "version_created": "2026-02-05T10:59:28.634960+11:00", "relevant_disorders": [ "Hyperthyroidism HP:0000836" ], "stats": { "number_of_genes": 8, "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" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "EAR-7.1/EAR-7.2", "THRA3", "AR7", "ERBA", "NR1A1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11796", "gene_name": "thyroid hormone receptor, alpha", "omim_gene": [ "190120" ], "alias_name": null, "gene_symbol": "THRA", "hgnc_symbol": "THRA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:38214543-38250120", "ensembl_id": "ENSG00000126351" } }, "GRch38": { "90": { "location": "17:40058290-40093867", "ensembl_id": "ENSG00000126351" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "THRA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "24847459", "27144938", "22168587", "23940126", "2567082", "22494134", "27381958" ], "evidence": [ "Expert 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"victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "THRB1", "THRB2", "NR1A2", "THR1", "ERBA-BETA", "GRTH" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11799", "gene_name": "thyroid hormone receptor beta", "omim_gene": [ "190160" ], "alias_name": [ "avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2", "oncogene ERBA2", "generalized resistance to thyroid hormone", "thyroid hormone receptor beta 1" ], "gene_symbol": "THRB", "hgnc_symbol": "THRB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:24158651-24536773", "ensembl_id": "ENSG00000151090" } }, "GRch38": { "90": { "location": "3:24117160-24495282", "ensembl_id": "ENSG00000151090" } } }, "hgnc_date_symbol_changed": "1988-08-31" }, "entity_type": "gene", "entity_name": "THRB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "24847459", "25135573", "31590893" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Thyroid hormone resistance, MIM#\t188570", "Thyroid hormone resistance, autosomal recessive, MIM#\t274300", "Thyroid hormone resistance, selective pituitary, MIM#\t145650" ], "mode_of_inheritance": "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3372, "hash_id": null, "name": "Hyperthyroidism", "disease_group": "Endocrine disorders", "disease_sub_group": "Thyroid disorders", "description": "This panel contains genes associated with hyperthyroidism. \r\n\r\nIt has been compared against the Genomics England PanelApp 'hyperthyroidism' panel V3.4, with all discrepancies reviewed and resolved (August 2025).", "status": "public", "version": "0.25", "version_created": "2026-02-05T10:59:28.634960+11:00", "relevant_disorders": [ "Hyperthyroidism HP:0000836" ], "stats": { "number_of_genes": 8, "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" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "LGR3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12373", "gene_name": "thyroid stimulating hormone receptor", "omim_gene": [ "603372" ], "alias_name": null, "gene_symbol": "TSHR", "hgnc_symbol": "TSHR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:81421333-81612646", "ensembl_id": "ENSG00000165409" } }, "GRch38": { "90": { "location": "14:80954989-81146302", "ensembl_id": "ENSG00000165409" } } }, "hgnc_date_symbol_changed": "1990-03-05" }, "entity_type": "gene", "entity_name": "TSHR", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "7920658", "7800007", "8964822" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Hyperthyroidism, nonautoimmune, MIM# 609152" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3372, "hash_id": null, "name": "Hyperthyroidism", "disease_group": "Endocrine disorders", "disease_sub_group": "Thyroid disorders", "description": "This panel contains genes associated with hyperthyroidism. \r\n\r\nIt has been compared against the Genomics England PanelApp 'hyperthyroidism' panel V3.4, with all discrepancies reviewed and resolved (August 2025).", "status": "public", "version": "0.25", "version_created": "2026-02-05T10:59:28.634960+11:00", "relevant_disorders": [ "Hyperthyroidism HP:0000836" ], "stats": { "number_of_genes": 8, "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" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "tRNA(Sec)" ], "biotype": null, "hgnc_id": "HGNC:12348", "gene_name": "transfer RNA-SeC (TCA) 1-1", "omim_gene": [ "165060" ], "alias_name": null, "gene_symbol": "TRU-TCA1-1", "hgnc_symbol": "TRU-TCA1-1", "hgnc_release": "2017-11-03", "ensembl_genes": {}, "hgnc_date_symbol_changed": "2014-06-19" }, "entity_type": "gene", "entity_name": "TRU-TCA1-1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "26854926", "34956927" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Inherited thyroid metabolism disease, MONDO:0045046, TRU-TCA1-1 related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3372, "hash_id": null, "name": "Hyperthyroidism", "disease_group": "Endocrine disorders", "disease_sub_group": "Thyroid disorders", "description": "This panel contains genes associated with hyperthyroidism. \r\n\r\nIt has been compared against the Genomics England PanelApp 'hyperthyroidism' panel V3.4, with all discrepancies reviewed and resolved (August 2025).", "status": "public", "version": "0.25", "version_created": "2026-02-05T10:59:28.634960+11:00", "relevant_disorders": [ "Hyperthyroidism HP:0000836" ], "stats": { "number_of_genes": 8, "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" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SERCA1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:811", "gene_name": "ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1", "omim_gene": [ "108730" ], "alias_name": [ "sarcoplasmic/endoplasmic reticulum calcium ATPase 1", "calcium pump 1" ], "gene_symbol": "ATP2A1", "hgnc_symbol": "ATP2A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:28889726-28915830", "ensembl_id": "ENSG00000196296" } }, "GRch38": { "90": { "location": "16:28878405-28904509", "ensembl_id": "ENSG00000196296" } } }, "hgnc_date_symbol_changed": "1990-09-10" }, "entity_type": "gene", "entity_name": "ATP2A1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32040565" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Brody myopathy MIM#601003" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3378, "hash_id": null, "name": "Malignant Hyperthermia Susceptibility", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that are established causes of malignant hyperthermia susceptibility (MHS). It can be used when the clinical and laboratory findings suggest a diagnosis of MHS, such as a positive muscle biopsy contracture test or positive family history. 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