{"count":1,"next":null,"previous":null,"results":[{"gene_data":{"alias":["ZIBRA","FLJ10111","FLJ23501","HOIP","Paul"],"biotype":"protein_coding","hgnc_id":"HGNC:16031","gene_name":"ring finger protein 31","omim_gene":["612487"],"alias_name":["HOIL-1-interacting protein"],"gene_symbol":"RNF31","hgnc_symbol":"RNF31","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:24615892-24629870","ensembl_id":"ENSG00000092098"}},"GRch38":{"90":{"location":"14:24146683-24160661","ensembl_id":"ENSG00000092098"}}},"hgnc_date_symbol_changed":"2003-09-29"},"entity_type":"gene","entity_name":"RNF31","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["26008899"],"evidence":["Expert Review Red","IUIS Classification February 2018","Victorian Clinical Genetics Services","GRID V2.0"],"phenotypes":["Polyglucosan body myopathy, early-onset, with or without immunodeficiency","autoinflammation and combined immunodeficiency","Bacterial infections, autoinflammation, amylopectinosis, lymphangiectasia","Combined immunodeficiencies with associated or syndromic features","Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis"],"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."}]}}]}