{"count":1,"next":null,"previous":null,"results":[{"gene_data":{"alias":["NY-REN-64"],"biotype":"protein_coding","hgnc_id":"HGNC:17967","gene_name":"interleukin 1 receptor associated kinase 4","omim_gene":["606883"],"alias_name":null,"gene_symbol":"IRAK4","hgnc_symbol":"IRAK4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:44152747-44183346","ensembl_id":"ENSG00000198001"}},"GRch38":{"90":{"location":"12:43758944-43789543","ensembl_id":"ENSG00000198001"}}},"hgnc_date_symbol_changed":"2002-09-27"},"entity_type":"gene","entity_name":"IRAK4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["12637671","16950813","17114497","17878374","17878374"],"evidence":["NHS GMS","North West GLH","London North GLH","IUIS Classification February 2018","Victorian Clinical Genetics Services","Expert Review Green","ESID Registry 20171117","GRID V2.0"],"phenotypes":["IRAK4 deficiency, 610799","Invasive pneumococcal disease, recurrent isolated, 1, 6107","Defects of TLR/NFkappa-B signalling","Defects with susceptibility to mycobacterial infection (MSMD)","Bacterial infections (pyogens)","Defects in Intrinsic and Innate Immunity"],"mode_of_inheritance":"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."}]}}]}