{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":["DNPK1","p350","DNAPK","XRCC7","DNA-PKcs"],"biotype":"protein_coding","hgnc_id":"HGNC:9413","gene_name":"protein kinase, DNA-activated, catalytic polypeptide","omim_gene":["600899"],"alias_name":["DNA-dependent protein kinase"],"gene_symbol":"PRKDC","hgnc_symbol":"PRKDC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:48685669-48872743","ensembl_id":"ENSG00000253729"}},"GRch38":{"90":{"location":"8:47773108-47960183","ensembl_id":"ENSG00000253729"}}},"hgnc_date_symbol_changed":"1993-11-09"},"entity_type":"gene","entity_name":"PRKDC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["19075392","23722905","25842288"],"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 26, with or without neurologic abnormalities","Immunodeficiency, with or without neurologic abnormalities","DNA Pkcs deficiency","Combined immunodeficiency","Severe combined immunodeficiency (SCID)","Nl NK, radiation sensitive, microcephaly","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."}]}},{"gene_data":{"alias":["DNPK1","p350","DNAPK","XRCC7","DNA-PKcs"],"biotype":"protein_coding","hgnc_id":"HGNC:9413","gene_name":"protein kinase, DNA-activated, catalytic polypeptide","omim_gene":["600899"],"alias_name":["DNA-dependent protein kinase"],"gene_symbol":"PRKDC","hgnc_symbol":"PRKDC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:48685669-48872743","ensembl_id":"ENSG00000253729"}},"GRch38":{"90":{"location":"8:47773108-47960183","ensembl_id":"ENSG00000253729"}}},"hgnc_date_symbol_changed":"1993-11-09"},"entity_type":"gene","entity_name":"PRKDC","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","SFARI"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":657,"hash_id":null,"name":"Autism","disease_group":"","disease_sub_group":"","status":"public","version":"0.15","version_created":"2019-06-20T15:10:14.437740Z","relevant_disorders":[],"stats":{"number_of_genes":733,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Research","slug":"research","description":"This is a gene panel used for research."}]}}]}