{"count":1,"next":null,"previous":null,"results":[{"gene_data":{"alias":["IRF-8","ICSBP"],"biotype":"protein_coding","hgnc_id":"HGNC:5358","gene_name":"interferon regulatory factor 8","omim_gene":["601565"],"alias_name":null,"gene_symbol":"IRF8","hgnc_symbol":"IRF8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:85932409-85956215","ensembl_id":"ENSG00000140968"}},"GRch38":{"90":{"location":"16:85898803-85922609","ensembl_id":"ENSG00000140968"}}},"hgnc_date_symbol_changed":"2004-11-12"},"entity_type":"gene","entity_name":"IRF8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["21524210","25122610","27893462","22464253","22046141"],"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":["Immunodeficiency 32A, mycobacteriosis, autosomal dominant, 614893","Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, 226990","Defects with susceptibility to mycobacterial infection (MSMD)","Susceptibility to mycobacteria","Defects in Intrinsic and Innate Immunity","Susceptibility to mycobacteria and multiple other infectious agents"],"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."}]}}]}
