Gene Search List
Search Genes
GET /api/v1/genes/?format=api&page=125
{ "count": 35555, "next": "https://panelapp-aus.org/api/v1/genes/?format=api&page=126", "previous": "https://panelapp-aus.org/api/v1/genes/?format=api&page=124", "results": [ { "gene_data": { "alias": [ "FLJ22341", "RHBDL5", "TOCG", "iRhom2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20788", "gene_name": "rhomboid 5 homolog 2", "omim_gene": [ "614404" ], "alias_name": null, "gene_symbol": "RHBDF2", "hgnc_symbol": "RHBDF2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:74466973-74497872", "ensembl_id": "ENSG00000129667" } }, "GRch38": { "90": { "location": "17:76470891-76501790", "ensembl_id": "ENSG00000129667" } } }, "hgnc_date_symbol_changed": "2006-02-22" }, "entity_type": "gene", "entity_name": "RHBDF2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22265016", "22638770" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Tylosis with oesophageal cancer, MIM# 148500" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 153, "hash_id": null, "name": "Palmoplantar Keratoderma and Erythrokeratoderma", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel was developed by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp Palmoplantar Keratoderma panel, and all discrepancies have been reviewed and resolved by VCGS and GHQ.", "status": "public", "version": "0.144", "version_created": "2026-03-08T22:20:02.332483+11:00", "relevant_disorders": [ "Palmoplantar keratoderma", "HP:0000982; Erythrokeratoderma", "MONDO:0019270" ], "stats": { "number_of_genes": 73, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ40906", "RSPONDIN" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21679", "gene_name": "R-spondin 1", "omim_gene": [ "609595" ], "alias_name": null, "gene_symbol": "RSPO1", "hgnc_symbol": "RSPO1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:38076951-38100595", "ensembl_id": "ENSG00000169218" } }, "GRch38": { "90": { "location": "1:37611350-37634923", "ensembl_id": "ENSG00000169218" } } }, "hgnc_date_symbol_changed": "2005-08-08" }, "entity_type": "gene", "entity_name": "RSPO1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "17041600", "18085567", "18250098", "18250097" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal MIM#610644", "Palmoplantar hyperkeratosis and true hermaphroditism MIM#610644" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 153, "hash_id": null, "name": "Palmoplantar Keratoderma and Erythrokeratoderma", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel was developed by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp Palmoplantar Keratoderma panel, and all discrepancies have been reviewed and resolved by VCGS and GHQ.", "status": "public", "version": "0.144", "version_created": "2026-03-08T22:20:02.332483+11:00", "relevant_disorders": [ "Palmoplantar keratoderma", "HP:0000982; Erythrokeratoderma", "MONDO:0019270" ], "stats": { "number_of_genes": 73, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MEGSIN" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13902", "gene_name": "serpin family B member 7", "omim_gene": [ "603357" ], "alias_name": null, "gene_symbol": "SERPINB7", "hgnc_symbol": "SERPINB7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:61420169-61472604", "ensembl_id": "ENSG00000166396" } }, "GRch38": { "90": { "location": "18:63752935-63805376", "ensembl_id": "ENSG00000166396" } } }, "hgnc_date_symbol_changed": "2000-11-21" }, "entity_type": "gene", "entity_name": "SERPINB7", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24773080", "24207119", "24514002", "31706940" ], "evidence": [ "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Palmoplantar keratoderma, Nagashima type (MIM#615598)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 153, "hash_id": null, "name": "Palmoplantar Keratoderma and Erythrokeratoderma", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel was developed by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp Palmoplantar Keratoderma panel, and all discrepancies have been reviewed and resolved by VCGS and GHQ.", "status": "public", "version": "0.144", "version_created": "2026-03-08T22:20:02.332483+11:00", "relevant_disorders": [ "Palmoplantar keratoderma", "HP:0000982; Erythrokeratoderma", "MONDO:0019270" ], "stats": { "number_of_genes": 73, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "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:12422", "gene_name": "tuftelin 1", "omim_gene": [ "600087" ], "alias_name": null, "gene_symbol": "TUFT1", "hgnc_symbol": "TUFT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:151512781-151556059", "ensembl_id": "ENSG00000143367" } }, "GRch38": { "90": { "location": "1:151540305-151583583", "ensembl_id": "ENSG00000143367" } } }, "hgnc_date_symbol_changed": "1993-08-24" }, "entity_type": "gene", "entity_name": "TUFT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "36689522", "37716648", "36689526" ], "evidence": [ "Expert Review Green", "Literature", "Literature" ], "phenotypes": [ "Woolly hair-skin fragility syndrome, MIM# 620415" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 153, "hash_id": null, "name": "Palmoplantar Keratoderma and Erythrokeratoderma", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel was developed by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp Palmoplantar Keratoderma panel, and all discrepancies have been reviewed and resolved by VCGS and GHQ.", "status": "public", "version": "0.144", "version_created": "2026-03-08T22:20:02.332483+11:00", "relevant_disorders": [ "Palmoplantar keratoderma", "HP:0000982; Erythrokeratoderma", "MONDO:0019270" ], "stats": { "number_of_genes": 73, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "BAM22", "AP105A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:554", "gene_name": "adaptor related protein complex 1 beta 1 subunit", "omim_gene": [ "600157" ], "alias_name": null, "gene_symbol": "AP1B1", "hgnc_symbol": "AP1B1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:29723669-29819168", "ensembl_id": "ENSG00000100280" } }, "GRch38": { "90": { "location": "22:29327680-29423179", "ensembl_id": "ENSG00000100280" } } }, "hgnc_date_symbol_changed": "2000-09-01" }, "entity_type": "gene", "entity_name": "AP1B1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31630791, 31630788, 33452671, 33349978, 35144013, 37657632, 32969855" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Ichthyosiform erythroderma, corneal involvement, and hearing loss MONDO:0009440" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 153, "hash_id": null, "name": "Palmoplantar Keratoderma and Erythrokeratoderma", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel was developed by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp Palmoplantar Keratoderma panel, and all discrepancies have been reviewed and resolved by VCGS and GHQ.", "status": "public", "version": "0.144", "version_created": "2026-03-08T22:20:02.332483+11:00", "relevant_disorders": [ "Palmoplantar keratoderma", "HP:0000982; Erythrokeratoderma", "MONDO:0019270" ], "stats": { "number_of_genes": 73, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "Ha-2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6449", "gene_name": "keratin 32", "omim_gene": [ "602760" ], "alias_name": [ "hard keratin type I" ], "gene_symbol": "KRT32", "hgnc_symbol": "KRT32", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:39616063-39623681", "ensembl_id": "ENSG00000108759" } }, "GRch38": { "90": { "location": "17:41459811-41467429", "ensembl_id": "ENSG00000108759" } } }, "hgnc_date_symbol_changed": "2006-07-17" }, "entity_type": "gene", "entity_name": "KRT32", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39048559" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Pityriasis rubra pilaris MONDO:0100017" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 153, "hash_id": null, "name": "Palmoplantar Keratoderma and Erythrokeratoderma", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel was developed by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp Palmoplantar Keratoderma panel, and all discrepancies have been reviewed and resolved by VCGS and GHQ.", "status": "public", "version": "0.144", "version_created": "2026-03-08T22:20:02.332483+11:00", "relevant_disorders": [ "Palmoplantar keratoderma", "HP:0000982; Erythrokeratoderma", "MONDO:0019270" ], "stats": { "number_of_genes": 73, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "HVH1", "CL100", "MKP-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3064", "gene_name": "dual specificity phosphatase 1", "omim_gene": [ "600714" ], "alias_name": null, "gene_symbol": "DUSP1", "hgnc_symbol": "DUSP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:172195093-172198198", "ensembl_id": "ENSG00000120129" } }, "GRch38": { "90": { "location": "5:172768090-172771195", "ensembl_id": "ENSG00000120129" } } }, "hgnc_date_symbol_changed": "1993-03-03" }, "entity_type": "gene", "entity_name": "DUSP1", "confidence_level": "1", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40359362" ], "evidence": [ "Expert Review Red", "Literature", "Literature" ], "phenotypes": [ "Hereditary palmoplantar keratoderma, MONDO:0019272, DUSP1-related" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 153, "hash_id": null, "name": "Palmoplantar Keratoderma and Erythrokeratoderma", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel was developed by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp Palmoplantar Keratoderma panel, and all discrepancies have been reviewed and resolved by VCGS and GHQ.", "status": "public", "version": "0.144", "version_created": "2026-03-08T22:20:02.332483+11:00", "relevant_disorders": [ "Palmoplantar keratoderma", "HP:0000982; Erythrokeratoderma", "MONDO:0019270" ], "stats": { "number_of_genes": 73, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Genetic Health Queensland", "slug": "genetic-health-queensland", "description": "Panel used by GHQ." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "p56", "FLJ11088", "DKFZp779L1558" ], "biotype": "protein_coding", "hgnc_id": "HGNC:24855", "gene_name": "coiled-coil domain containing 91", "omim_gene": [ "617366" ], "alias_name": [ "GGA binding partner" ], "gene_symbol": "CCDC91", "hgnc_symbol": "CCDC91", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:28286182-28732883", "ensembl_id": "ENSG00000123106" } }, "GRch38": { "90": { "location": "12:28133249-28581511", "ensembl_id": "ENSG00000123106" } } }, "hgnc_date_symbol_changed": "2006-03-17" }, "entity_type": "gene", "entity_name": "CCDC91", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "38627542" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Punctate palmoplantar keratoderma type III MONDO:0007047" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 153, "hash_id": null, "name": "Palmoplantar Keratoderma and Erythrokeratoderma", "disease_group": "Dermatological disorders", "disease_sub_group": "", "description": "This panel was developed by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp Palmoplantar Keratoderma panel, and all discrepancies have been reviewed and resolved by VCGS and GHQ.", "status": "public", "version": "0.144", "version_created": "2026-03-08T22:20:02.332483+11:00", "relevant_disorders": [ "Palmoplantar keratoderma", "HP:0000982; 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