{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":["p50","Bp50"],"biotype":"protein_coding","hgnc_id":"HGNC:11919","gene_name":"CD40 molecule","omim_gene":["109535"],"alias_name":null,"gene_symbol":"CD40","hgnc_symbol":"CD40","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:44746911-44758502","ensembl_id":"ENSG00000101017"}},"GRch38":{"90":{"location":"20:46118272-46129863","ensembl_id":"ENSG00000101017"}}},"hgnc_date_symbol_changed":"2005-01-14"},"entity_type":"gene","entity_name":"CD40","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["28787010"],"evidence":["Literature"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":394,"hash_id":null,"name":"Familial Meniere Disease","disease_group":"Hearing and ear disorders","disease_sub_group":"Other hearing and ear disorders","status":"public","version":"1.1","version_created":"2018-01-17T16:26:29.432517Z","relevant_disorders":[],"stats":{"number_of_genes":130,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["p50","Bp50"],"biotype":"protein_coding","hgnc_id":"HGNC:11919","gene_name":"CD40 molecule","omim_gene":["109535"],"alias_name":null,"gene_symbol":"CD40","hgnc_symbol":"CD40","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:44746911-44758502","ensembl_id":"ENSG00000101017"}},"GRch38":{"90":{"location":"20:46118272-46129863","ensembl_id":"ENSG00000101017"}}},"hgnc_date_symbol_changed":"2005-01-14"},"entity_type":"gene","entity_name":"CD40","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["11675497","12584544","20301287","17502893"],"evidence":["NHS GMS","North West GLH","London North GLH","IUIS Classification February 2018","Expert Review Green","ESID Registry 20171117","GRID V2.0","GOSH PID v.8.0"],"phenotypes":["Immunodeficiency with hyper-IgM, type 3","HIGM3","CD40 deficiency","CSR defects and Hyper IgM (HIGM) syndromes","Hyper-IgM syndrome due to CD40 deficiency","non-X-linked hyper IgM syndrome","Neutropenia, opportunistic infections, gastrointestinal and biliary tract and liver disease, Cryptosporidium infections","Immunodeficiencies affecting cellular and humoral 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."}]}}]}