{"count":1,"next":null,"previous":null,"results":[{"gene_data":{"alias":["C1IN","C1-INH","HAE1","HAE2"],"biotype":"protein_coding","hgnc_id":"HGNC:1228","gene_name":"serpin family G member 1","omim_gene":["606860"],"alias_name":["plasma protease C1 inhibitor","angioedema, hereditary"],"gene_symbol":"SERPING1","hgnc_symbol":"SERPING1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:57364860-57382326","ensembl_id":"ENSG00000149131"}},"GRch38":{"90":{"location":"11:57597387-57614853","ensembl_id":"ENSG00000149131"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"SERPING1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["1597123","7883978"],"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"],"phenotypes":["Angioedema, hereditary, types I and II 106100","Hereditary Angioedema (C1inh)","Complement component 4, partial deficiency of 120790","Hereditary angioedema","Complement Deficiencies"],"mode_of_inheritance":"BOTH monoallelic and 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."}]}}]}