Gene Search List
Search Genes
GET /api/v1/genes/?format=api&page=356
{ "count": 35510, "next": null, "previous": "https://panelapp-aus.org/api/v1/genes/?format=api&page=355", "results": [ { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:5022", "gene_name": "forkhead box A2", "omim_gene": [ "600288" ], "alias_name": null, "gene_symbol": "FOXA2", "hgnc_symbol": "FOXA2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:22561643-22566093", "ensembl_id": "ENSG00000125798" } }, "GRch38": { "90": { "location": "20:22581005-22585455", "ensembl_id": "ENSG00000125798" } } }, "hgnc_date_symbol_changed": "2002-09-20" }, "entity_type": "gene", "entity_name": "FOXA2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "28973288, 29329447, 30414530, 33729509, 31294511, 33999151" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Hypopituitarism, MONDO:0005152", "Hyperinsulinism, MONDO:0002177" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 4523, "hash_id": null, "name": "Adrenal insufficiency", "disease_group": "Endocrine disorders", "disease_sub_group": "Adrenal disorders", "description": "This panel contains genes associated with adrenal insufficiency.\r\n\r\nIt includes genes from the Genomics England PanelApp 'congenital adrenal hypoplasia' panel V4.5.", "status": "public", "version": "0.76", "version_created": "2026-03-19T16:21:18.336273+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 58, "number_of_strs": 0, "number_of_regions": 0 }, "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": null }, { "gene_data": { "alias": [ "FBHOk", "FBH3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:565", "gene_name": "adaptor related protein complex 2 sigma 1 subunit", "omim_gene": [ "602242" ], "alias_name": null, "gene_symbol": "AP2S1", "hgnc_symbol": "AP2S1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:47341393-47354249", "ensembl_id": "ENSG00000042753" } }, "GRch38": { "90": { "location": "19:46838136-46850992", "ensembl_id": "ENSG00000042753" } } }, "hgnc_date_symbol_changed": "2000-09-01" }, "entity_type": "gene", "entity_name": "AP2S1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23222959", "33729479", "33168530", "3204769", "31723423", "29479578" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hypocalciuric hypercalcaemia, type III, MIM# 600740", "MONDO:0010926" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4525, "hash_id": null, "name": "Familial hypocalciuric hypercalcaemia", "disease_group": "Endocrine disorders", "disease_sub_group": "Calcium disorders", "description": "This panel contains genes associated with familial hypocalciuric hypercalcaemia. \r\n\r\nIt includes genes from the Genomics England PanelApp 'familial hyperparathyroidism or hypocalciuric hypercalcaemia' panel V3.6.", "status": "public", "version": "0.7", "version_created": "2026-01-29T13:50:01.311095+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 3, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FBH", "FBH2", "FHH2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4379", "gene_name": "G protein subunit alpha 11", "omim_gene": [ "139313" ], "alias_name": null, "gene_symbol": "GNA11", "hgnc_symbol": "GNA11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:3094408-3124002", "ensembl_id": "ENSG00000088256" } }, "GRch38": { "90": { "location": "19:3094410-3124004", "ensembl_id": "ENSG00000088256" } } }, "hgnc_date_symbol_changed": "1992-07-20" }, "entity_type": "gene", "entity_name": "GNA11", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "23802516", "28833550", "27913609" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hypocalciuric hypercalcaemia, type II, MIM# 145981", "MONDO:0007792" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4525, "hash_id": null, "name": "Familial hypocalciuric hypercalcaemia", "disease_group": "Endocrine disorders", "disease_sub_group": "Calcium disorders", "description": "This panel contains genes associated with familial hypocalciuric hypercalcaemia. \r\n\r\nIt includes genes from the Genomics England PanelApp 'familial hyperparathyroidism or hypocalciuric hypercalcaemia' panel V3.6.", "status": "public", "version": "0.7", "version_created": "2026-01-29T13:50:01.311095+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 3, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FHH", "NSHPT", "GPRC2A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1514", "gene_name": "calcium sensing receptor", "omim_gene": [ "601199" ], "alias_name": [ "severe neonatal hyperparathyroidism" ], "gene_symbol": "CASR", "hgnc_symbol": "CASR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:121902530-122005342", "ensembl_id": "ENSG00000036828" } }, "GRch38": { "90": { "location": "3:122183683-122291629", "ensembl_id": "ENSG00000036828" } } }, "hgnc_date_symbol_changed": "1992-12-04" }, "entity_type": "gene", "entity_name": "CASR", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "7916660,19423559,9011580,7717399,17698911,7726161" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Familial hypocalciuric hypercalcemia 1, MONDO:0007791" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4525, "hash_id": null, "name": "Familial hypocalciuric hypercalcaemia", "disease_group": "Endocrine disorders", "disease_sub_group": "Calcium disorders", "description": "This panel contains genes associated with familial hypocalciuric hypercalcaemia. \r\n\r\nIt includes genes from the Genomics England PanelApp 'familial hyperparathyroidism or hypocalciuric hypercalcaemia' panel V3.6.", "status": "public", "version": "0.7", "version_created": "2026-01-29T13:50:01.311095+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 3, "number_of_strs": 0, "number_of_regions": 0 }, "types": [], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FHH", "NSHPT", "GPRC2A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1514", "gene_name": "calcium sensing receptor", "omim_gene": [ "601199" ], "alias_name": [ "severe neonatal hyperparathyroidism" ], "gene_symbol": "CASR", "hgnc_symbol": "CASR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:121902530-122005342", "ensembl_id": "ENSG00000036828" } }, "GRch38": { "90": { "location": "3:122183683-122291629", "ensembl_id": "ENSG00000036828" } } }, "hgnc_date_symbol_changed": "1992-12-04" }, "entity_type": "gene", "entity_name": "CASR", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "8675635,15292296,9253359,8675635,25162666,28740527" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Neonatal severe primary hyperparathyroidism, MONDO:0009397" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 4526, "hash_id": null, "name": "Hyperparathyroidism", "disease_group": "Endocrine disorders", "disease_sub_group": "Calcium disorders", "description": "This panel contains genes associated with primary hyperparathyroidism \r\n(and includes some cancer predisposition disorders). \r\n\r\nIt includes genes from the Genomics England PanelApp 'familial hyperparathyroidism or hypocalciuric hypercalcaemia' panel V3.6.", "status": "public", "version": "0.12", "version_created": "2026-01-30T09:51:01.481999+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 6, "number_of_strs": 0, "number_of_regions": 0 }, "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": [ "hGCMb" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4198", "gene_name": "glial cells missing homolog 2", "omim_gene": [ "603716" ], "alias_name": null, "gene_symbol": "GCM2", "hgnc_symbol": "GCM2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:10873456-10882174", "ensembl_id": "ENSG00000124827" } }, "GRch38": { "90": { "location": "6:10873223-10881941", "ensembl_id": "ENSG00000124827" } } }, "hgnc_date_symbol_changed": "2002-09-27" }, "entity_type": "gene", "entity_name": "GCM2", "confidence_level": "3", "penetrance": "unknown", "mode_of_pathogenicity": "Other", "publications": [ "27745835" ], "evidence": [ "Expert Review Green", "Literature", "Literature" ], "phenotypes": [ "Hyperparathyroidism 4, OMIM #617343" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 4526, "hash_id": null, "name": "Hyperparathyroidism", "disease_group": "Endocrine disorders", "disease_sub_group": "Calcium disorders", "description": "This panel contains genes associated with primary hyperparathyroidism \r\n(and includes some cancer predisposition disorders). \r\n\r\nIt includes genes from the Genomics England PanelApp 'familial hyperparathyroidism or hypocalciuric hypercalcaemia' panel V3.6.", "status": "public", "version": "0.12", "version_created": "2026-01-30T09:51:01.481999+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 6, "number_of_strs": 0, "number_of_regions": 0 }, "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:7010", "gene_name": "menin 1", "omim_gene": [ "613733" ], "alias_name": [ "menin" ], "gene_symbol": "MEN1", "hgnc_symbol": "MEN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:64570982-64578766", "ensembl_id": "ENSG00000133895" } }, "GRch38": { "90": { "location": "11:64803510-64811294", "ensembl_id": "ENSG00000133895" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "MEN1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 31797261, 14985373" ], "evidence": [ "Expert Review Green", "Expert list", "Expert list", "Expert list", "Expert list" ], "phenotypes": [ "Multiple endocrine neoplasia 1 MIM#131100" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4526, "hash_id": null, "name": "Hyperparathyroidism", "disease_group": "Endocrine disorders", "disease_sub_group": "Calcium disorders", "description": "This panel contains genes associated with primary hyperparathyroidism \r\n(and includes some cancer predisposition disorders). \r\n\r\nIt includes genes from the Genomics England PanelApp 'familial hyperparathyroidism or hypocalciuric hypercalcaemia' panel V3.6.", "status": "public", "version": "0.12", "version_created": "2026-01-30T09:51:01.481999+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 6, "number_of_strs": 0, "number_of_regions": 0 }, "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": [ "PTC", "CDHF12", "RET51", "CDHR16" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9967", "gene_name": "ret proto-oncogene", "omim_gene": [ "164761" ], "alias_name": [ "cadherin-related family member 16", "RET receptor tyrosine kinase", "rearranged during transfection" ], "gene_symbol": "RET", "hgnc_symbol": "RET", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:43572475-43625799", "ensembl_id": "ENSG00000165731" } }, "GRch38": { "90": { "location": "10:43077027-43130351", "ensembl_id": "ENSG00000165731" } } }, "hgnc_date_symbol_changed": "1990-07-15" }, "entity_type": "gene", "entity_name": "RET", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert list", "Expert list", "Expert Review" ], "phenotypes": [ "Multiple endocrine neoplasia IIA, MIM# 171400", "Multiple endocrine neoplasia IIB, MIM# 162300" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4526, "hash_id": null, "name": "Hyperparathyroidism", "disease_group": "Endocrine disorders", "disease_sub_group": "Calcium disorders", "description": "This panel contains genes associated with primary hyperparathyroidism \r\n(and includes some cancer predisposition disorders). \r\n\r\nIt includes genes from the Genomics England PanelApp 'familial hyperparathyroidism or hypocalciuric hypercalcaemia' panel V3.6.", "status": "public", "version": "0.12", "version_created": "2026-01-30T09:51:01.481999+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 6, "number_of_strs": 0, "number_of_regions": 0 }, "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": [ "KIP1", "P27KIP1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1785", "gene_name": "cyclin dependent kinase inhibitor 1B", "omim_gene": [ "600778" ], "alias_name": null, "gene_symbol": "CDKN1B", "hgnc_symbol": "CDKN1B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:12867992-12875305", "ensembl_id": "ENSG00000111276" } }, "GRch38": { "90": { "location": "12:12715058-12722371", "ensembl_id": "ENSG00000111276" } } }, "hgnc_date_symbol_changed": "1995-09-14" }, "entity_type": "gene", "entity_name": "CDKN1B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24819502", "17030811", "23555276" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Multiple endocrine neoplasia type 4, MEN4, OMIM #610755" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4526, "hash_id": null, "name": "Hyperparathyroidism", "disease_group": "Endocrine disorders", "disease_sub_group": "Calcium disorders", "description": "This panel contains genes associated with primary hyperparathyroidism \r\n(and includes some cancer predisposition disorders). \r\n\r\nIt includes genes from the Genomics England PanelApp 'familial hyperparathyroidism or hypocalciuric hypercalcaemia' panel V3.6.", "status": "public", "version": "0.12", "version_created": "2026-01-30T09:51:01.481999+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 6, "number_of_strs": 0, "number_of_regions": 0 }, "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": null }, { "gene_data": { "alias": [ "parafibromin", "FIHP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16783", "gene_name": "cell division cycle 73", "omim_gene": [ "607393" ], "alias_name": [ "Paf1/RNA polymerase II complex component" ], "gene_symbol": "CDC73", "hgnc_symbol": "CDC73", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:193091147-193223031", "ensembl_id": "ENSG00000134371" } }, "GRch38": { "90": { "location": "1:193122017-193253901", "ensembl_id": "ENSG00000134371" } } }, "hgnc_date_symbol_changed": "2005-07-20" }, "entity_type": "gene", "entity_name": "CDC73", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "12434154" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Hyperparathyroidism-jaw tumour syndrome, MIM# 145001", "Hyperparathyroidism, familial primary, MIM# 145000" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 4526, "hash_id": null, "name": "Hyperparathyroidism", "disease_group": "Endocrine disorders", "disease_sub_group": "Calcium disorders", "description": "This panel contains genes associated with primary hyperparathyroidism \r\n(and includes some cancer predisposition disorders). \r\n\r\nIt includes genes from the Genomics England PanelApp 'familial hyperparathyroidism or hypocalciuric hypercalcaemia' panel V3.6.", "status": "public", "version": "0.12", "version_created": "2026-01-30T09:51:01.481999+11:00", "relevant_disorders": [], "stats": { "number_of_genes": 6, "number_of_strs": 0, "number_of_regions": 0 }, "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": null } ] }