{"count":1,"next":null,"previous":null,"results":[{"gene_data":{"alias":["TONEBP","KIAA0827","NFATL1","OREBP","NFATZ","NF-AT5"],"biotype":"protein_coding","hgnc_id":"HGNC:7774","gene_name":"nuclear factor of activated T-cells 5","omim_gene":["604708"],"alias_name":["tonicity-responsive enhancer binding protein"],"gene_symbol":"NFAT5","hgnc_symbol":"NFAT5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:69598997-69738569","ensembl_id":"ENSG00000102908"}},"GRch38":{"90":{"location":"16:69565094-69704666","ensembl_id":"ENSG00000102908"}}},"hgnc_date_symbol_changed":"1999-07-16"},"entity_type":"gene","entity_name":"NFAT5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Red","IUIS Classification February 2018","Victorian Clinical Genetics Services","GRID V2.0"],"phenotypes":["NFAT5 haploinsufficieny","IBD, recurrent sinopulmonary infections","Diseases of Immune Dysregulation"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":["watchlist"],"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."}]}}]}