{"count":1,"next":null,"previous":null,"results":[{"gene_data":{"alias":["CRP1"],"biotype":"protein_coding","hgnc_id":"HGNC:1836","gene_name":"CCAAT/enhancer binding protein epsilon","omim_gene":["600749"],"alias_name":null,"gene_symbol":"CEBPE","hgnc_symbol":"CEBPE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:23586513-23588825","ensembl_id":"ENSG00000092067"}},"GRch38":{"90":{"location":"14:23117304-23119616","ensembl_id":"ENSG00000092067"}}},"hgnc_date_symbol_changed":"1992-06-24"},"entity_type":"gene","entity_name":"CEBPE","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["10359588","11313242","29651288"],"evidence":["NHS GMS","North West GLH","London North GLH","Expert Review Green","IUIS Classification February 2018","Victorian Clinical Genetics Services","ESID Registry 20171117","GRID V2.0"],"phenotypes":["Specific granule deficiency, 245480","Specific granule deficiency 1","CCAAT/enhancer binding protein epsilon deficiency (CEBPE)","Recurrent infection due to specific granule deficiency","neutrophil lactoferrin deficiency","Neutrophils with bilobed nuclei","Congenital defects of phagocyte number or function"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":398,"hash_id":null,"name":"Primary immunodeficiency","disease_group":"","disease_sub_group":"","status":"public","version":"1.132","version_created":"2019-09-27T14:37:49.085568Z","relevant_disorders":["Primary immunodeficiency disorders","A- or hypo-gammaglobulinaemia","Congenital neutropaenia","Agranulocytosis","Combined B and T cell defect","Inherited complement deficiency","SCID","Primary immune disorder","Primary immunodeficiency","A-gammaglobulinaemia","Agammaglobulinaemia","hypo-gammaglobulinaemia","hypogammaglobulinemia","immune deficiency syndromes","Severe combined immunodeficiency","Congenital neutopenia","Familial haemophagocytic lymphohistiocytic disorders","Familial hemophagocytic lymphohistiocytic disorders","PID","Sepsis","Disseminated non-tuberculous mycobacterial infection","R15"],"stats":{"number_of_genes":395,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"name":"GMS Rare Disease Virtual","slug":"gms-rare-disease-virtual","description":"This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."}]}}]}