{"count":3,"next":null,"previous":null,"results":[{"gene_data":{"alias":["p22-PHOX"],"biotype":"protein_coding","hgnc_id":"HGNC:2577","gene_name":"cytochrome b-245 alpha chain","omim_gene":["608508"],"alias_name":["flavocytochrome b-558 alpha polypeptide"],"gene_symbol":"CYBA","hgnc_symbol":"CYBA","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"16:88709691-88717560","ensembl_id":"ENSG00000051523"}},"GRch38":{"90":{"location":"16:88643283-88651152","ensembl_id":"ENSG00000051523"}}},"hgnc_date_symbol_changed":"1990-01-15"},"entity_type":"gene","entity_name":"CYBA","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27537055 - pathogenic variant in this gene reported in a patient using whole exome sequencing screening in 147 pediatric patients with monogenic Inflammatory Bowel Disease."],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen","Emory Genetics Laboratory","UKGTN","Expert list"],"phenotypes":["Chronic granulomatous disease, autosomal, due to deficiency of CYBA\t233690"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":176,"hash_id":"56ba026c22c1fc5025762b50","name":"Infantile enterocolitis & monogenic inflammatory bowel disease","disease_group":"Gastroenterological disorders","disease_sub_group":"Gastrointestinal disorders","status":"public","version":"1.16","version_created":"2017-11-05T02:37:20.171671Z","relevant_disorders":["Infantile enterocolitis and monogenic inflammatory bowel disease"],"stats":{"number_of_genes":62,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["p22-PHOX"],"biotype":"protein_coding","hgnc_id":"HGNC:2577","gene_name":"cytochrome b-245 alpha chain","omim_gene":["608508"],"alias_name":["flavocytochrome b-558 alpha 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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"],"phenotypes":["Chronic granulomatous disease, autosomal, due to deficiency of CYBA,233690","Chronic granulomatous disease (CGD)","Infections, autoinflammatory phenotype","Congenital defects of phagocyte number or function"],"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."}]}}]}