{"count":1,"next":null,"previous":null,"results":[{"gene_data":{"alias":["JAK1A","JTK3"],"biotype":"protein_coding","hgnc_id":"HGNC:6190","gene_name":"Janus kinase 1","omim_gene":["147795"],"alias_name":null,"gene_symbol":"JAK1","hgnc_symbol":"JAK1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:65298912-65432187","ensembl_id":"ENSG00000162434"}},"GRch38":{"90":{"location":"1:64833229-64966504","ensembl_id":"ENSG00000162434"}}},"hgnc_date_symbol_changed":"1992-04-16"},"entity_type":"gene","entity_name":"JAK1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"Other - please provide details in the comments","publications":["28111307"],"evidence":["Expert Review Red","IUIS Classification February 2018"],"phenotypes":["HSM, eosinophilia, eosinophilic enteritis, thyroid disease, poor growth, viral infections","Diseases of Immune Dysregulation","Susceptibility to mycobacteria and viruses, urothelial carcinoma","Defects in Intrinsic and Innate Immunity","Hypereosinophilic syndrome"],"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."}]}}]}