{"count":1,"next":null,"previous":null,"results":[{"gene_data":{"alias":["BLS","RFX-B","ANKRA1","F14150_1","MGC138628"],"biotype":"protein_coding","hgnc_id":"HGNC:9987","gene_name":"regulatory factor X associated ankyrin containing protein","omim_gene":["603200"],"alias_name":["ankyrin repeat-containing regulatory factor X-associated protein","regulatory factor X subunit B","RFX-Bdelta4","DNA-binding protein RFXANK"],"gene_symbol":"RFXANK","hgnc_symbol":"RFXANK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:19303008-19312678","ensembl_id":"ENSG00000064490"}},"GRch38":{"90":{"location":"19:19192229-19201869","ensembl_id":"ENSG00000064490"}}},"hgnc_date_symbol_changed":"1998-11-19"},"entity_type":"gene","entity_name":"RFXANK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["11313409","12618906","22863278","20414676","9806546"],"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","GOSH PID v.8.0","Combined B and T cell defect v1.12"],"phenotypes":["MHC class II deficiency, complementation group B","Combined immunodeficiency (MHC class II deficiency, bare lymphocyte syndrome)","HLA class II deficiency","Respiratory and gastrointestinal infections, liver/biliary tract disease","Immunodeficiencies affecting cellular and humoral 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."}]}}]}