Gene Search List
Search Genes
GET /api/v1/genes/?format=api&page=245
{ "count": 35535, "next": "https://panelapp-aus.org/api/v1/genes/?format=api&page=246", "previous": "https://panelapp-aus.org/api/v1/genes/?format=api&page=244", "results": [ { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4265", "gene_name": "growth hormone releasing hormone", "omim_gene": [ "139190" ], "alias_name": [ "sermorelin", "somatocrinin", "somatoliberin" ], "gene_symbol": "GHRH", "hgnc_symbol": "GHRH", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:35879489-35890238", "ensembl_id": "ENSG00000118702" } }, "GRch38": { "90": { "location": "20:37251082-37261835", "ensembl_id": "ENSG00000118702" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "GHRH", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15155578" ], "evidence": [ "Expert Review Red", "Genomics England PanelApp" ], "phenotypes": [ "No OMIM number", "?Isolated growth hormone deficiency due to defect in GHRF" ], "mode_of_inheritance": "Unknown", "tags": [], "panel": { "id": 3236, "hash_id": null, "name": "Pituitary hormone deficiency", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with pituitary hormone deficiency. \r\nIncludes isolated hormone deficiency, combined hormone deficiencies, and panhypopituitarism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Pituitary hormone deficiency' panel V4.1, with all discrepancies reviewed and resolved (November 2025).", "status": "public", "version": "0.208", "version_created": "2026-04-02T15:15:10.893013+11:00", "relevant_disorders": [ "Hypopituitarism", "HP:0040075" ], "stats": { "number_of_genes": 118, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FAST1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3814", "gene_name": "forkhead box H1", "omim_gene": [ "603621" ], "alias_name": null, "gene_symbol": "FOXH1", "hgnc_symbol": "FOXH1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:145698795-145701718", "ensembl_id": "ENSG00000160973" } }, "GRch38": { "90": { "location": "8:144473412-144476335", "ensembl_id": "ENSG00000160973" } } }, "hgnc_date_symbol_changed": "1999-12-22" }, "entity_type": "gene", "entity_name": "FOXH1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Red", "Genomics England PanelApp" ], "phenotypes": [ "Holoprosencephaly", "No OMIM number" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3236, "hash_id": null, "name": "Pituitary hormone deficiency", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with pituitary hormone deficiency. \r\nIncludes isolated hormone deficiency, combined hormone deficiencies, and panhypopituitarism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Pituitary hormone deficiency' panel V4.1, with all discrepancies reviewed and resolved (November 2025).", "status": "public", "version": "0.208", "version_created": "2026-04-02T15:15:10.893013+11:00", "relevant_disorders": [ "Hypopituitarism", "HP:0040075" ], "stats": { "number_of_genes": 118, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:1071", "gene_name": "bone morphogenetic protein 4", "omim_gene": [ "112262" ], "alias_name": null, "gene_symbol": "BMP4", "hgnc_symbol": "BMP4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:54416454-54425479", "ensembl_id": "ENSG00000125378" } }, "GRch38": { "90": { "location": "14:53949736-53958761", "ensembl_id": "ENSG00000125378" } } }, "hgnc_date_symbol_changed": "1990-06-11" }, "entity_type": "gene", "entity_name": "BMP4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31120642, 24289245, 18252212, 35633847" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Microphthalmia, syndromic 6, MIM#607932" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 3236, "hash_id": null, "name": "Pituitary hormone deficiency", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with pituitary hormone deficiency. \r\nIncludes isolated hormone deficiency, combined hormone deficiencies, and panhypopituitarism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Pituitary hormone deficiency' panel V4.1, with all discrepancies reviewed and resolved (November 2025).", "status": "public", "version": "0.208", "version_created": "2026-04-02T15:15:10.893013+11:00", "relevant_disorders": [ "Hypopituitarism", "HP:0040075" ], "stats": { "number_of_genes": 118, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:1069", "gene_name": "bone morphogenetic protein 2", "omim_gene": [ "112261" ], "alias_name": null, "gene_symbol": "BMP2", "hgnc_symbol": "BMP2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:6748311-6760927", "ensembl_id": "ENSG00000125845" } }, "GRch38": { "90": { "location": "20:6767664-6780280", "ensembl_id": "ENSG00000125845" } } }, "hgnc_date_symbol_changed": "1990-06-11" }, "entity_type": "gene", "entity_name": "BMP2", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24289245" ], "evidence": [ "Expert Review Red", "Genomics England PanelApp" ], "phenotypes": [ "Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies (617877)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 3236, "hash_id": null, "name": "Pituitary hormone deficiency", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with pituitary hormone deficiency. \r\nIncludes isolated hormone deficiency, combined hormone deficiencies, and panhypopituitarism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Pituitary hormone deficiency' panel V4.1, with all discrepancies reviewed and resolved (November 2025).", "status": "public", "version": "0.208", "version_created": "2026-04-02T15:15:10.893013+11:00", "relevant_disorders": [ "Hypopituitarism", "HP:0040075" ], "stats": { "number_of_genes": 118, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0307", "bHLHe1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16876", "gene_name": "aryl hydrocarbon receptor nuclear translocator 2", "omim_gene": [ "606036" ], "alias_name": null, "gene_symbol": "ARNT2", "hgnc_symbol": "ARNT2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:80696692-80890278", "ensembl_id": "ENSG00000172379" } }, "GRch38": { "90": { "location": "15:80404350-80597937", "ensembl_id": "ENSG00000172379" } } }, "hgnc_date_symbol_changed": "2001-12-05" }, "entity_type": "gene", "entity_name": "ARNT2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24022475, 11381139" ], "evidence": [ "Expert Review Amber", "Literature", "Genomics England PanelApp", "Genetic Health Queensland" ], "phenotypes": [ "Webb-Dattani syndrome 615926" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3236, "hash_id": null, "name": "Pituitary hormone deficiency", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with pituitary hormone deficiency. \r\nIncludes isolated hormone deficiency, combined hormone deficiencies, and panhypopituitarism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Pituitary hormone deficiency' panel V4.1, with all discrepancies reviewed and resolved (November 2025).", "status": "public", "version": "0.208", "version_created": "2026-04-02T15:15:10.893013+11:00", "relevant_disorders": [ "Hypopituitarism", "HP:0040075" ], "stats": { "number_of_genes": 118, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11640", "gene_name": "transcription factor 7 like 1", "omim_gene": [ "604652" ], "alias_name": null, "gene_symbol": "TCF7L1", "hgnc_symbol": "TCF7L1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:85360533-85537511", "ensembl_id": "ENSG00000152284" } }, "GRch38": { "90": { "location": "2:85133410-85310388", "ensembl_id": "ENSG00000152284" } } }, "hgnc_date_symbol_changed": "1998-01-20" }, "entity_type": "gene", "entity_name": "TCF7L1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "26764381" ], "evidence": [ "Expert Review Red", "Genomics England PanelApp" ], "phenotypes": [ "Combined pituitary deficiencies, genetic form, MONDO:0013099, TCF7L1-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 3236, "hash_id": null, "name": "Pituitary hormone deficiency", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with pituitary hormone deficiency. \r\nIncludes isolated hormone deficiency, combined hormone deficiencies, and panhypopituitarism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Pituitary hormone deficiency' panel V4.1, with all discrepancies reviewed and resolved (November 2025).", "status": "public", "version": "0.208", "version_created": "2026-04-02T15:15:10.893013+11:00", "relevant_disorders": [ "Hypopituitarism", "HP:0040075" ], "stats": { "number_of_genes": 118, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HHG1", "SMMCI", "TPT", "TPTPS", "MCOPCB5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10848", "gene_name": "sonic hedgehog", "omim_gene": [ "600725" ], "alias_name": null, "gene_symbol": "SHH", "hgnc_symbol": "SHH", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:155592680-155604967", "ensembl_id": "ENSG00000164690" } }, "GRch38": { "90": { "location": "7:155799986-155812273", "ensembl_id": "ENSG00000164690" } } }, "hgnc_date_symbol_changed": "1995-03-10" }, "entity_type": "gene", "entity_name": "SHH", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22897141" ], "evidence": [ "Expert Review Amber", "Genomics England PanelApp" ], "phenotypes": [ "Hypopituitarism, MONDO:0005152", "Microphthalmia with coloboma 5 (611638)", "Holoprosencephaly 3 (142945)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 3236, "hash_id": null, "name": "Pituitary hormone deficiency", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with pituitary hormone deficiency. \r\nIncludes isolated hormone deficiency, combined hormone deficiencies, and panhypopituitarism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Pituitary hormone deficiency' panel V4.1, with all discrepancies reviewed and resolved (November 2025).", "status": "public", "version": "0.208", "version_created": "2026-04-02T15:15:10.893013+11:00", "relevant_disorders": [ "Hypopituitarism", "HP:0040075" ], "stats": { "number_of_genes": 118, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Kv7.1", "KCNA8", "KVLQT1", "JLNS1", "LQT1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6294", "gene_name": "potassium voltage-gated channel subfamily Q member 1", "omim_gene": [ "607542" ], "alias_name": [ "Jervell and Lange-Nielsen syndrome 1" ], "gene_symbol": "KCNQ1", "hgnc_symbol": "KCNQ1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:2465914-2870339", "ensembl_id": "ENSG00000053918" } }, "GRch38": { "90": { "location": "11:2444684-2849109", "ensembl_id": "ENSG00000053918" } } }, "hgnc_date_symbol_changed": "1997-02-05" }, "entity_type": "gene", "entity_name": "KCNQ1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "29097701,38987191" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Hypopituitarism, MONDO:0005152" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 3236, "hash_id": null, "name": "Pituitary hormone deficiency", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with pituitary hormone deficiency. \r\nIncludes isolated hormone deficiency, combined hormone deficiencies, and panhypopituitarism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Pituitary hormone deficiency' panel V4.1, with all discrepancies reviewed and resolved (November 2025).", "status": "public", "version": "0.208", "version_created": "2026-04-02T15:15:10.893013+11:00", "relevant_disorders": [ "Hypopituitarism", "HP:0040075" ], "stats": { "number_of_genes": 118, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ORCAM", "CDO", "CDON1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17104", "gene_name": "cell adhesion associated, oncogene regulated", "omim_gene": [ "608707" ], "alias_name": [ "cell adhesion molecule-related/down-regulated by oncogenes" ], "gene_symbol": "CDON", "hgnc_symbol": "CDON", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:125825691-125933230", "ensembl_id": "ENSG00000064309" } }, "GRch38": { "90": { "location": "11:125955796-126063335", "ensembl_id": "ENSG00000064309" } } }, "hgnc_date_symbol_changed": "2001-11-02" }, "entity_type": "gene", "entity_name": "CDON", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21802063", "29749693", "32729136", "33270637", "26529631", "27974186" ], "evidence": [ "Expert Review Amber", "Genomics England PanelApp" ], "phenotypes": [ "Holoprosencephaly 11 (614226)" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 3236, "hash_id": null, "name": "Pituitary hormone deficiency", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with pituitary hormone deficiency. \r\nIncludes isolated hormone deficiency, combined hormone deficiencies, and panhypopituitarism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Pituitary hormone deficiency' panel V4.1, with all discrepancies reviewed and resolved (November 2025).", "status": "public", "version": "0.208", "version_created": "2026-04-02T15:15:10.893013+11:00", "relevant_disorders": [ "Hypopituitarism", "HP:0040075" ], "stats": { "number_of_genes": 118, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "dj747L4.1", "TPIT" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11596", "gene_name": "T-box 19", "omim_gene": [ "604614" ], "alias_name": [ "TBS 19" ], "gene_symbol": "TBX19", "hgnc_symbol": "TBX19", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:168250278-168283664", "ensembl_id": "ENSG00000143178" } }, "GRch38": { "90": { "location": "1:168281040-168314426", "ensembl_id": "ENSG00000143178" } } }, "hgnc_date_symbol_changed": "1999-02-01" }, "entity_type": "gene", "entity_name": "TBX19", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15613420, 31998673, 11290323, 15476446, 22170728" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Adrenocorticotropic hormone deficiency, 201400" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3236, "hash_id": null, "name": "Pituitary hormone deficiency", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with pituitary hormone deficiency. \r\nIncludes isolated hormone deficiency, combined hormone deficiencies, and panhypopituitarism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Pituitary hormone deficiency' panel V4.1, with all discrepancies reviewed and resolved (November 2025).", "status": "public", "version": "0.208", "version_created": "2026-04-02T15:15:10.893013+11:00", "relevant_disorders": [ "Hypopituitarism", "HP:0040075" ], "stats": { "number_of_genes": 118, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11199", "gene_name": "SRY-box 3", "omim_gene": [ "313430" ], "alias_name": null, "gene_symbol": "SOX3", "hgnc_symbol": "SOX3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:139585152-139587225", "ensembl_id": "ENSG00000134595" } }, "GRch38": { "90": { "location": "X:140502985-140505116", "ensembl_id": "ENSG00000134595" } } }, "hgnc_date_symbol_changed": "1993-11-30" }, "entity_type": "gene", "entity_name": "SOX3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24346842", "15800844", "21289259", "24737742" ], "evidence": [ "Expert Review Green", "Genomics England PanelApp" ], "phenotypes": [ "Panhypopituitarism, X-linked (312000)", "Mental retardation, X-linked, with isolated growth hormone deficiency (300123)" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [ "SV/CNV" ], "panel": { "id": 3236, "hash_id": null, "name": "Pituitary hormone deficiency", "disease_group": "Endocrine disorders", "disease_sub_group": "Pituitary disorders", "description": "This panel contains genes associated with pituitary hormone deficiency. \r\nIncludes isolated hormone deficiency, combined hormone deficiencies, and panhypopituitarism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Pituitary hormone deficiency' panel V4.1, with all discrepancies reviewed and resolved (November 2025).", "status": "public", "version": "0.208", "version_created": "2026-04-02T15:15:10.893013+11:00", "relevant_disorders": [ "Hypopituitarism", "HP:0040075" ], "stats": { "number_of_genes": 118, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11195", "gene_name": "SRY-box 2", "omim_gene": [ "184429" ], "alias_name": null, "gene_symbol": "SOX2", "hgnc_symbol": "SOX2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:181429714-181432221", "ensembl_id": "ENSG00000181449" } }, "GRch38": { "90": { "location": "3:181711924-181714436", "ensembl_id": "ENSG00000181449" } } }, "hgnc_date_symbol_changed": 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"victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "NK3R" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11528", "gene_name": "tachykinin receptor 3", "omim_gene": [ "162332" ], "alias_name": [ "neurokinin beta receptor" ], "gene_symbol": "TACR3", "hgnc_symbol": "TACR3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:104507188-104640973", "ensembl_id": "ENSG00000169836" } }, "GRch38": { "90": { "location": "4:103586031-103719816", "ensembl_id": "ENSG00000169836" } } }, "hgnc_date_symbol_changed": "1997-11-28" }, "entity_type": "gene", "entity_name": "TACR3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, 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"version_created": "2026-04-02T15:15:10.893013+11:00", "relevant_disorders": [ "Hypopituitarism", "HP:0040075" ], "stats": { "number_of_genes": 118, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:15533", "gene_name": "sprouty RTK signaling antagonist 4", "omim_gene": [ "607984" ], "alias_name": null, "gene_symbol": "SPRY4", "hgnc_symbol": "SPRY4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:141689992-141706020", "ensembl_id": "ENSG00000187678" } }, "GRch38": { "90": { 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null }, { "gene_data": { "alias": [ "MTP1", "IREG1", "FPN1", "HFE4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10909", "gene_name": "solute carrier family 40 member 1", "omim_gene": [ "604653" ], "alias_name": [ "ferroportin 1" ], "gene_symbol": "SLC40A1", "hgnc_symbol": "SLC40A1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:190425305-190448484", "ensembl_id": "ENSG00000138449" } }, "GRch38": { "90": { "location": "2:189560579-189583758", "ensembl_id": "ENSG00000138449" } } }, "hgnc_date_symbol_changed": "2003-06-05" }, "entity_type": "gene", "entity_name": "SLC40A1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11431687", "11518736", "15956209", "16351644" ], "evidence": [ "Expert Review Red", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Haemochromatosis, type 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