{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:1674","gene_name":"CD3e molecule","omim_gene":["186830"],"alias_name":null,"gene_symbol":"CD3E","hgnc_symbol":"CD3E","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:118175260-118186890","ensembl_id":"ENSG00000198851"}},"GRch38":{"90":{"location":"11:118304545-118316175","ensembl_id":"ENSG00000198851"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"CD3E","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["8490660","15546002","24515816","1828760","1370449","24515816","15546002","7937778"],"evidence":["ClinGen","Expert Review Green","Other"],"phenotypes":["Immunodeficiency 18","ORPHA183660","OMIM 615615"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":64,"hash_id":"58ee38f88f62033bda307d54","name":"ClinGen Gene Validity Curations","disease_group":"","disease_sub_group":"","status":"public","version":"0.64","version_created":"2019-06-20T15:10:34.572009Z","relevant_disorders":[],"stats":{"number_of_genes":47,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"ClinGen Curated genes","slug":"clingen-curated-genes","description":"ClinGen Curated genes"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:1674","gene_name":"CD3e molecule","omim_gene":["186830"],"alias_name":null,"gene_symbol":"CD3E","hgnc_symbol":"CD3E","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:118175260-118186890","ensembl_id":"ENSG00000198851"}},"GRch38":{"90":{"location":"11:118304545-118316175","ensembl_id":"ENSG00000198851"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"CD3E","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"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","GOSH PID v.8.0","SCID v1.6"],"phenotypes":["Immunodeficiency 18, SCID variant","Severe Combined Immune Deficiency","Immunodeficiency due to defect in CD3-epsilon","T-B+ SCID","CD3e deficiency","Atypical Severe Combined Immunodeficiency (Atypical SCID)","Severe combined immunodeficiency (SCID)","Nl NK, no g/d T cells","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."}]}}]}
