{"count":1,"next":null,"previous":null,"results":[{"gene_data":{"alias":["HC8"],"biotype":"protein_coding","hgnc_id":"HGNC:9532","gene_name":"proteasome subunit alpha 3","omim_gene":["176843"],"alias_name":null,"gene_symbol":"PSMA3","hgnc_symbol":"PSMA3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:58711549-58738730","ensembl_id":"ENSG00000100567"}},"GRch38":{"90":{"location":"14:58244831-58272012","ensembl_id":"ENSG00000100567"}}},"hgnc_date_symbol_changed":"1995-05-03"},"entity_type":"gene","entity_name":"PSMA3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["26524591"],"evidence":["Expert Review Amber","North West GLH","London North GLH","NHS GMS","Victorian Clinical Genetics Services"],"phenotypes":["CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome)"],"mode_of_inheritance":"","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."}]}}]}
