{"count":1,"next":null,"previous":null,"results":[{"gene_data":{"alias":["CD3H","CD3Q"],"biotype":"protein_coding","hgnc_id":"HGNC:1677","gene_name":"CD247 molecule","omim_gene":["186780"],"alias_name":null,"gene_symbol":"CD247","hgnc_symbol":"CD247","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:167399877-167487847","ensembl_id":"ENSG00000198821"}},"GRch38":{"90":{"location":"1:167430640-167518610","ensembl_id":"ENSG00000198821"}}},"hgnc_date_symbol_changed":"2006-03-09"},"entity_type":"gene","entity_name":"CD247","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["16672702","26690594","17170122","27555457","25688246","https://doi.org/10.14785/lpsn-2014-0012"],"evidence":["Expert Review Amber","IUIS Classification February 2018","Victorian Clinical Genetics Services","ESID Registry 20171117","GRID V2.0","GOSH PID v.8.0","SCID v1.6"],"phenotypes":["T-B+ severe combined immunodeficiency due to CD3zeta","?Immunodeficiency 25","T-B+ SCID","Immunodeficiency 25, 610163","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."}]}}]}