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"This is a gene panel used for research." } ] }, "transcript": null }, { "gene_data": { "alias": [ "RPX", "ANF" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4877", "gene_name": "HESX homeobox 1", "omim_gene": [ "601802" ], "alias_name": null, "gene_symbol": "HESX1", "hgnc_symbol": "HESX1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:57231944-57260549", "ensembl_id": "ENSG00000163666" } }, "GRch38": { "90": { "location": "3:57197843-57226521", "ensembl_id": "ENSG00000163666" } } }, "hgnc_date_symbol_changed": "1998-11-19" }, "entity_type": "gene", "entity_name": "HESX1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30847515" ], "evidence": [ "Next Generation Children Project", "Expert Review Green", "Expert list" ], "phenotypes": [ "Pituitary hormone deficiency, combined, 5, 182230", "Growth hormone deficiency with pituitary anomalies, 182230", "Septooptic dysplasia, 182230" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 921, "hash_id": null, "name": "Severe Paediatric Disorders", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "1.184", "version_created": "2024-04-09T15:06:23.215649Z", "relevant_disorders": [], "stats": { "number_of_genes": 2691, "number_of_strs": 1, "number_of_regions": 0 }, "types": [ { "name": "Research", "slug": "research", "description": "This is a gene panel used for research." } ] }, "transcript": null }, { "gene_data": { "alias": [ "NE", "HNE", "HLE" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3309", "gene_name": "elastase, neutrophil expressed", "omim_gene": [ "130130" ], "alias_name": [ "neutrophil elastase", "leukocyte elastase", "medullasin" ], "gene_symbol": "ELANE", "hgnc_symbol": "ELANE", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:851014-856242", "ensembl_id": "ENSG00000197561" } }, "GRch38": { "90": { "location": "19:851014-856247", "ensembl_id": "ENSG00000197561" } } }, "hgnc_date_symbol_changed": "2009-05-05" }, "entity_type": "gene", "entity_name": "ELANE", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "NHS GMS", "Expert Review Green" ], "phenotypes": [], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 1372, "hash_id": null, "name": "Neutropaenia consistent with ELANE mutations", "disease_group": "", "disease_sub_group": "", "status": "public", "version": "1.1", "version_created": "2023-09-14T13:43:05.956143Z", "relevant_disorders": [ "R313" ], "stats": { "number_of_genes": 1, "number_of_strs": 0, "number_of_regions": 0 }, "types": [ { "name": "GMS Rare Disease", "slug": "gms-rare-disease", "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)" }, { "name": "GMS 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