{"count":1,"next":null,"previous":null,"results":[{"gene_data":{"alias":["SLP65","Ly57","SLP-65","BLNK-s","BASH","bca"],"biotype":"protein_coding","hgnc_id":"HGNC:14211","gene_name":"B-cell linker","omim_gene":["604515"],"alias_name":["B-cell adapter containing a SH2 domain protein","B-cell activation","Src homology [SH2] domain-containing leukocyte protein of 65 kD","B cell adaptor containing SH2 domain"],"gene_symbol":"BLNK","hgnc_symbol":"BLNK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:97951458-98031344","ensembl_id":"ENSG00000095585"}},"GRch38":{"90":{"location":"10:96191702-96271587","ensembl_id":"ENSG00000095585"}}},"hgnc_date_symbol_changed":"2001-07-16"},"entity_type":"gene","entity_name":"BLNK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["10583958","19302039","24582315","25893637"],"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","A- or hypo-gammaglobulinaemia v1.25"],"phenotypes":["Agammaglobulinemia 4, 613502","agammaglobulinaemia with absent B cells","Agammaglobulinemia 4","Agammaglobulinemia","Severe bacterial infections, normal numbers of pro-B cells","Predominantly Antibody Deficiencies"],"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."}]}}]}