{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":["CLMF","IL-12B","NKSF","CLMF2"],"biotype":"protein_coding","hgnc_id":"HGNC:5970","gene_name":"interleukin 12B","omim_gene":["161561"],"alias_name":["natural killer cell stimulatory factor-2","cytotoxic lymphocyte maturation factor 2, p40","interleukin 12, p40","natural killer cell stimulatory factor, 40 kD subunit","interleukin-12 beta chain","IL12, subunit p40"],"gene_symbol":"IL12B","hgnc_symbol":"IL12B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:158741791-158757895","ensembl_id":"ENSG00000113302"}},"GRch38":{"90":{"location":"5:159314783-159330887","ensembl_id":"ENSG00000113302"}}},"hgnc_date_symbol_changed":"1991-08-08"},"entity_type":"gene","entity_name":"IL12B","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Other"],"phenotypes":["Crohn disease"],"mode_of_inheritance":"","tags":[],"panel":{"id":33,"hash_id":"56ba026422c1fc5025762b4f","name":"Gastrointestinal epithelial barrier disorders","disease_group":"Gastroenterological disorders","disease_sub_group":"Gastrointestinal disorders","status":"public","version":"1.59","version_created":"2019-06-20T15:11:44.535737Z","relevant_disorders":[],"stats":{"number_of_genes":82,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["CLMF","IL-12B","NKSF","CLMF2"],"biotype":"protein_coding","hgnc_id":"HGNC:5970","gene_name":"interleukin 12B","omim_gene":["161561"],"alias_name":["natural killer cell stimulatory factor-2","cytotoxic lymphocyte maturation factor 2, p40","interleukin 12, p40","natural killer cell stimulatory factor, 40 kD subunit","interleukin-12 beta chain","IL12, subunit p40"],"gene_symbol":"IL12B","hgnc_symbol":"IL12B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:158741791-158757895","ensembl_id":"ENSG00000113302"}},"GRch38":{"90":{"location":"5:159314783-159330887","ensembl_id":"ENSG00000113302"}}},"hgnc_date_symbol_changed":"1991-08-08"},"entity_type":"gene","entity_name":"IL12B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["9854038","11753820","15322986","24127073"],"evidence":["NHS GMS","North West GLH","London North GLH","Expert Review Green","IUIS Classification February 2018","Victorian Clinical Genetics Services","ESID Registry 20171117","GRID V2.0"],"phenotypes":["Immunodeficiency 29, mycobacteriosis, 614890","Defects with susceptibility to mycobacterial infection (MSMD)","Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency","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."}]}}]}