Gene Search List
Search Genes
GET /api/v1/genes/?format=api&page=116
{ "count": 35555, "next": "https://panelapp-aus.org/api/v1/genes/?format=api&page=117", "previous": "https://panelapp-aus.org/api/v1/genes/?format=api&page=115", "results": [ { "gene_data": { "alias": [ "GP-1", "HSPC018" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4669", "gene_name": "GTP binding protein 1", "omim_gene": [ "602245" ], "alias_name": null, "gene_symbol": "GTPBP1", "hgnc_symbol": "GTPBP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:39101728-39134304", "ensembl_id": "ENSG00000100226" } }, "GRch38": { "90": { "location": "22:38705723-38738299", "ensembl_id": "ENSG00000100226" } } }, "hgnc_date_symbol_changed": "1999-04-22" }, "entity_type": "gene", "entity_name": "GTPBP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "38118446" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1, MIM# 620888" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 138, "hash_id": null, "name": "Microcephaly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.", "status": "public", "version": "1.427", "version_created": "2026-04-02T17:28:09.565635+11:00", "relevant_disorders": [ "Microcephaly", "HP:0000252" ], "stats": { "number_of_genes": 383, "number_of_strs": 0, "number_of_regions": 8 }, "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" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HYPB", "HIF-1", "KIAA1732", "FLJ23184", "KMT3A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18420", "gene_name": "SET domain containing 2", "omim_gene": [ "612778" ], "alias_name": null, "gene_symbol": "SETD2", "hgnc_symbol": "SETD2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:47057919-47205457", "ensembl_id": "ENSG00000181555" } }, "GRch38": { "90": { "location": "3:47016429-47163967", "ensembl_id": "ENSG00000181555" } } }, "hgnc_date_symbol_changed": "2006-02-15" }, "entity_type": "gene", "entity_name": "SETD2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32710489" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Rabin-Pappas syndrome,MIM# 620155" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 138, "hash_id": null, "name": "Microcephaly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.", "status": "public", "version": "1.427", "version_created": "2026-04-02T17:28:09.565635+11:00", "relevant_disorders": [ "Microcephaly", "HP:0000252" ], "stats": { "number_of_genes": 383, "number_of_strs": 0, "number_of_regions": 8 }, "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" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "PIP5Kgamma", "KIAA0589", "LCCS3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8996", "gene_name": "phosphatidylinositol-4-phosphate 5-kinase type 1 gamma", "omim_gene": [ "606102" ], "alias_name": null, "gene_symbol": "PIP5K1C", "hgnc_symbol": "PIP5K1C", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:3630181-3700477", "ensembl_id": "ENSG00000186111" } }, "GRch38": { "90": { "location": "19:3630183-3700479", "ensembl_id": "ENSG00000186111" } } }, "hgnc_date_symbol_changed": "1999-12-14" }, "entity_type": "gene", "entity_name": "PIP5K1C", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "37451268" ], "evidence": [ "Expert Review Green", "Other" ], "phenotypes": [ "Neurodevelopmental disorder and microcephaly, MONDO:0700092, PIP5K1C-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 138, "hash_id": null, "name": "Microcephaly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.", "status": "public", "version": "1.427", "version_created": "2026-04-02T17:28:09.565635+11:00", "relevant_disorders": [ "Microcephaly", "HP:0000252" ], "stats": { "number_of_genes": 383, "number_of_strs": 0, "number_of_regions": 8 }, "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" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CRN", "CLF", "SYF3", "Clf1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15762", "gene_name": "crooked neck pre-mRNA splicing factor 1", "omim_gene": [ "610952" ], "alias_name": [ "SYF3 pre-mRNA-splicing factor" ], "gene_symbol": "CRNKL1", "hgnc_symbol": "CRNKL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:20015012-20036690", "ensembl_id": "ENSG00000101343" } }, "GRch38": { "90": { "location": "20:20034368-20056046", "ensembl_id": "ENSG00000101343" } } }, "hgnc_date_symbol_changed": "2001-05-31" }, "entity_type": "gene", "entity_name": "CRNKL1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "40857589" ], "evidence": [ "Expert Review Green", "Other" ], "phenotypes": [ "Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, MIM# 621436" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 138, "hash_id": null, "name": "Microcephaly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.", "status": "public", "version": "1.427", "version_created": "2026-04-02T17:28:09.565635+11:00", "relevant_disorders": [ "Microcephaly", "HP:0000252" ], "stats": { "number_of_genes": 383, "number_of_strs": 0, "number_of_regions": 8 }, "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" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA1133", "BK747E2.3", "FLJ22057", "RNF203" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18126", "gene_name": "zinc and ring finger 3", "omim_gene": [ "612062" ], "alias_name": null, "gene_symbol": "ZNRF3", "hgnc_symbol": "ZNRF3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:29279580-29453475", "ensembl_id": "ENSG00000183579" } }, "GRch38": { "90": { "location": "22:28883592-29057487", "ensembl_id": "ENSG00000183579" } } }, "hgnc_date_symbol_changed": "2004-07-29" }, "entity_type": "gene", "entity_name": "ZNRF3", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39168120" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "complex neurodevelopmental disorder MONDO:0100038" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 138, "hash_id": null, "name": "Microcephaly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.", "status": "public", "version": "1.427", "version_created": "2026-04-02T17:28:09.565635+11:00", "relevant_disorders": [ "Microcephaly", "HP:0000252" ], "stats": { "number_of_genes": 383, "number_of_strs": 0, "number_of_regions": 8 }, "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" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FILIP", "KIAA1275" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21015", "gene_name": "filamin A interacting protein 1", "omim_gene": [ "607307" ], "alias_name": null, "gene_symbol": "FILIP1", "hgnc_symbol": "FILIP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:76001575-76203454", "ensembl_id": "ENSG00000118407" } }, "GRch38": { "90": { "location": "6:75291859-75493738", "ensembl_id": "ENSG00000118407" } } }, "hgnc_date_symbol_changed": "2003-05-02" }, "entity_type": "gene", "entity_name": "FILIP1", "confidence_level": "3", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "36943452" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neuromuscular disorder, congenital, with dysmorphic facies, MIM# 620775" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 138, "hash_id": null, "name": "Microcephaly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.", "status": "public", "version": "1.427", "version_created": "2026-04-02T17:28:09.565635+11:00", "relevant_disorders": [ "Microcephaly", "HP:0000252" ], "stats": { "number_of_genes": 383, "number_of_strs": 0, "number_of_regions": 8 }, "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" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SNAP190", "PTFalpha", "FLJ13451" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11137", "gene_name": "small nuclear RNA activating complex polypeptide 4", "omim_gene": [ "602777" ], "alias_name": null, "gene_symbol": "SNAPC4", "hgnc_symbol": "SNAPC4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:139270029-139293249", "ensembl_id": "ENSG00000165684" } }, "GRch38": { "90": { "location": "9:136375577-136400168", "ensembl_id": "ENSG00000165684" } } }, "hgnc_date_symbol_changed": "1998-02-17" }, "entity_type": "gene", "entity_name": "SNAPC4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "36965478" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction, MIM#\t620515" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 138, "hash_id": null, "name": "Microcephaly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.", "status": "public", "version": "1.427", "version_created": "2026-04-02T17:28:09.565635+11:00", "relevant_disorders": [ "Microcephaly", "HP:0000252" ], "stats": { "number_of_genes": 383, "number_of_strs": 0, "number_of_regions": 8 }, "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" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "Htra2-beta", "PPP1R156" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10781", "gene_name": "transformer 2 beta homolog", "omim_gene": [ "602719" ], "alias_name": [ "protein phosphatase 1, regulatory subunit 156" ], "gene_symbol": "TRA2B", "hgnc_symbol": "TRA2B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:185633694-185655924", "ensembl_id": "ENSG00000136527" } }, "GRch38": { "90": { "location": "3:185915906-185938136", "ensembl_id": "ENSG00000136527" } } }, "hgnc_date_symbol_changed": "2009-02-27" }, "entity_type": "gene", "entity_name": "TRA2B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 36549593" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Ramond-Elliott neurodevelopmental syndrome, MIM# 621421" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 138, "hash_id": null, "name": "Microcephaly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.", "status": "public", "version": "1.427", "version_created": "2026-04-02T17:28:09.565635+11:00", "relevant_disorders": [ "Microcephaly", "HP:0000252" ], "stats": { "number_of_genes": 383, "number_of_strs": 0, "number_of_regions": 8 }, "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" } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DBX", "HLP2", "DDX14" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2745", "gene_name": "DEAD-box helicase 3, X-linked", "omim_gene": [ "300160" ], "alias_name": null, "gene_symbol": "DDX3X", "hgnc_symbol": "DDX3X", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:41192651-41223725", "ensembl_id": "ENSG00000215301" } }, "GRch38": { "90": { "location": "X:41333348-41364472", "ensembl_id": "ENSG00000215301" } } }, "hgnc_date_symbol_changed": "2003-06-20" }, "entity_type": "gene", "entity_name": "DDX3X", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "26235985" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Snijders Blok-type X-linked syndromic intellectual developmental disorder (MIM#300958)" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)", "tags": [], "panel": { "id": 138, "hash_id": null, "name": "Microcephaly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.", "status": "public", "version": "1.427", "version_created": "2026-04-02T17:28:09.565635+11:00", "relevant_disorders": [ "Microcephaly", "HP:0000252" ], "stats": { "number_of_genes": 383, "number_of_strs": 0, "number_of_regions": 8 }, "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" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "smg-10" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29029", "gene_name": "TELO2 interacting protein 1", "omim_gene": [ "614425" ], "alias_name": [ "smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)" ], "gene_symbol": "TTI1", "hgnc_symbol": "TTI1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:36611409-36661870", "ensembl_id": "ENSG00000101407" } }, "GRch38": { "90": { "location": "20:37983007-38033468", "ensembl_id": "ENSG00000101407" } } }, "hgnc_date_symbol_changed": "2010-06-22" }, "entity_type": "gene", "entity_name": "TTI1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "36724785" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with microcephaly and movement abnormalities, MIM# 620445" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 138, "hash_id": null, "name": "Microcephaly", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "", "description": "This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.", "status": "public", "version": "1.427", "version_created": "2026-04-02T17:28:09.565635+11:00", "relevant_disorders": [ "Microcephaly", "HP:0000252" ], "stats": { "number_of_genes": 383, "number_of_strs": 0, "number_of_regions": 8 }, "types": [ { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." }, { "name": "Royal Melbourne Hospital", "slug": 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"number_of_regions": 8 }, "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" } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "C2H2-171", "TAZ-1", "RP58" ], "biotype": "protein_coding", "hgnc_id": "HGNC:13030", "gene_name": "zinc finger and BTB domain containing 18", "omim_gene": [ "608433" ], "alias_name": null, "gene_symbol": "ZBTB18", "hgnc_symbol": "ZBTB18", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:244214585-244220778", "ensembl_id": "ENSG00000179456" } }, "GRch38": { "90": { "location": "1:244048939-244057476", "ensembl_id": "ENSG00000179456" } } }, "hgnc_date_symbol_changed": "2013-01-09" }, "entity_type": 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"description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" } ], "child_panel_ids": [] }, "transcript": [] } ] }