{"count":1,"next":null,"previous":null,"results":[{"gene_data":{"alias":["NIK","HSNIK","FTDCR1B","HS"],"biotype":"protein_coding","hgnc_id":"HGNC:6853","gene_name":"mitogen-activated protein kinase kinase kinase 14","omim_gene":["604655"],"alias_name":["serine/threonine protein-kinase"],"gene_symbol":"MAP3K14","hgnc_symbol":"MAP3K14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:43340488-43394414","ensembl_id":"ENSG00000006062"}},"GRch38":{"90":{"location":"17:45263121-45317040","ensembl_id":"ENSG00000006062"}}},"hgnc_date_symbol_changed":"2000-08-11"},"entity_type":"gene","entity_name":"MAP3K14","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29230214","25406581","29259025"],"evidence":["NHS GMS","North West GLH","London North GLH","IUIS Classification February 2018","Victorian Clinical Genetics Services","Expert Review Green","GRID V2.0"],"phenotypes":["Recessive Atypical Combined Immunodeficiency","Primary Immunodeficiency with Multifaceted Aberrant Lymphoid Immunity","Low NK number and function, recurrent bacterial, viral and Cryptosporidium infections","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."}]}}]}