{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:16391","gene_name":"caspase recruitment domain family member 9","omim_gene":["607212"],"alias_name":null,"gene_symbol":"CARD9","hgnc_symbol":"CARD9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:139256355-139268133","ensembl_id":"ENSG00000187796"}},"GRch38":{"90":{"location":"9:136361903-136373681","ensembl_id":"ENSG00000187796"}}},"hgnc_date_symbol_changed":"2001-08-13"},"entity_type":"gene","entity_name":"CARD9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24131138"],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Deep dermatophytosis"],"mode_of_inheritance":"","tags":[],"panel":{"id":565,"hash_id":null,"name":"Rare genetic inflammatory skin disorders","disease_group":"","disease_sub_group":"","status":"public","version":"0.14","version_created":"2019-09-09T15:38:40.627314Z","relevant_disorders":[],"stats":{"number_of_genes":60,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"GMS Rare Disease","slug":"gms-rare-disease","description":"This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:16391","gene_name":"caspase recruitment domain family member 9","omim_gene":["607212"],"alias_name":null,"gene_symbol":"CARD9","hgnc_symbol":"CARD9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:139256355-139268133","ensembl_id":"ENSG00000187796"}},"GRch38":{"90":{"location":"9:136361903-136373681","ensembl_id":"ENSG00000187796"}}},"hgnc_date_symbol_changed":"2001-08-13"},"entity_type":"gene","entity_name":"CARD9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["19864672","23335372","24131138"],"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":["Candidiasis, familial, 2","212050","CARD9 deficiency","Predisposition to invasive fungal disease due to CARD9 deficiency","Invasive candidiasis infection, deep dermatophytoses, other invasive fungal infections","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."}]}}]}