{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":["CD212"],"biotype":"protein_coding","hgnc_id":"HGNC:5971","gene_name":"interleukin 12 receptor subunit beta 1","omim_gene":["601604"],"alias_name":null,"gene_symbol":"IL12RB1","hgnc_symbol":"IL12RB1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"19:18169805-18209754","ensembl_id":"ENSG00000096996"}},"GRch38":{"90":{"location":"19:18058995-18098944","ensembl_id":"ENSG00000096996"}}},"hgnc_date_symbol_changed":"1995-09-14"},"entity_type":"gene","entity_name":"IL12RB1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["23557799"],"evidence":["Expert Review Red","Literature"],"phenotypes":["modification of hidradenitis suppurativa phenotype"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":23,"hash_id":"5885e9db8f620309044f8a0a","name":"Familial hidradenitis suppurativa","disease_group":"Dermatological disorders","disease_sub_group":"Skin adnexa disorders","status":"public","version":"1.1","version_created":"2017-11-05T02:37:19.861127Z","relevant_disorders":[],"stats":{"number_of_genes":11,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["CD212"],"biotype":"protein_coding","hgnc_id":"HGNC:5971","gene_name":"interleukin 12 receptor subunit beta 1","omim_gene":["601604"],"alias_name":null,"gene_symbol":"IL12RB1","hgnc_symbol":"IL12RB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:18169805-18209754","ensembl_id":"ENSG00000096996"}},"GRch38":{"90":{"location":"19:18058995-18098944","ensembl_id":"ENSG00000096996"}}},"hgnc_date_symbol_changed":"1995-09-14"},"entity_type":"gene","entity_name":"IL12RB1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["9603733","11424023","15178580","15736007","12594833","21487897"],"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"],"phenotypes":["Immunodeficiency 30, 614891","Defects with susceptibility to mycobacterial infection (MSMD)","Susceptibility to mycobacteria and Salmonella","Defects in Intrinsic and Innate 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."}]}}]}