{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:1242","gene_name":"complement C1q B chain","omim_gene":["120570"],"alias_name":null,"gene_symbol":"C1QB","hgnc_symbol":"C1QB","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:22979255-22988031","ensembl_id":"ENSG00000173369"}},"GRch38":{"90":{"location":"1:22652762-22661538","ensembl_id":"ENSG00000173369"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"C1QB","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["9476130","17513176","2894352","23651859","24160257","25454803","17513176","24160257","12133956"],"evidence":["ClinGen","Expert Review Green","Other"],"phenotypes":["Immunodeficiency due to an early component of complement deficiency","ORPHA169147","OMIM 613652"],"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:1242","gene_name":"complement C1q B chain","omim_gene":["120570"],"alias_name":null,"gene_symbol":"C1QB","hgnc_symbol":"C1QB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:22979255-22988031","ensembl_id":"ENSG00000173369"}},"GRch38":{"90":{"location":"1:22652762-22661538","ensembl_id":"ENSG00000173369"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"C1QB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["9476130","17513176","2894352","23651859","24160257","25454803","12133956"],"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","Inherited complement deficiency v0.11"],"phenotypes":["Immunodeficiency due to an early component of complement deficiency, 613652","C1q deficiency","Complement component 1 deficiency","SLE","lupus-like disease","susceptibility to invasive bacterial infection","SLE, infections with encapsulated organisms","Complement Deficiencies"],"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."}]}}]}