{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:1246","gene_name":"complement C1r","omim_gene":["613785"],"alias_name":null,"gene_symbol":"C1R","hgnc_symbol":"C1R","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:7187513-7245203","ensembl_id":"ENSG00000159403"}},"GRch38":{"90":{"location":"12:7080209-7092607","ensembl_id":"ENSG00000159403"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"C1R","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27745832","29795138","28711143","21784777","28544690"],"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":["C1r/C1s deficiency, combined, Lupus","Complement component 1 deficiency","Immunodeficiency due to a classical component pathway complement deficiency","SLE","pyogenic infections","SLE, infections with encapsulated organisms, Ehlers Danlos phenotype","Complement Deficiencies"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["early-onset"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:1246","gene_name":"complement C1r","omim_gene":["613785"],"alias_name":null,"gene_symbol":"C1R","hgnc_symbol":"C1R","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"12:7187513-7245203","ensembl_id":"ENSG00000159403"}},"GRch38":{"90":{"location":"12:7080209-7092607","ensembl_id":"ENSG00000159403"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"C1R","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27745832","28306229","28306225"],"evidence":["NHS GMS","Expert Review Green","Literature"],"phenotypes":["Ehlers-Danlos syndrome periodontal type 1, 130080","Periodontal Ehlers-Danlos syndrome","Periodontal EDS","pEDS","EDS type VIII","Ehlers-Danlos Syndrome periodontitis type","EDSVIII","EDSPD1"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":53,"hash_id":"588728f38f62030cf7152165","name":"Ehlers Danlos syndromes","disease_group":"Rheumatological disorders","disease_sub_group":"Connective tissues disorders","status":"public","version":"2.1","version_created":"2019-10-09T07:04:44.655768Z","relevant_disorders":["Classical Ehlers Danlos Syndrome","Classical Ehlers-Danlos Syndrome","Ehlers-Danlos Syndrome (unusual phenotypes e.g. absent pain sense)","Ehlers-Danlos syndrome type 3","Kyphoscoliotic Ehlers-Danlos syndrome","EDS","Ehlers-Danlos syndromes","R101"],"stats":{"number_of_genes":75,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"name":"GMS Rare Disease","slug":"gms-rare-disease","description":"This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"},{"name":"GMS signed-off","slug":"gms-signed-off","description":"This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."}]}}]}