{"count":3,"next":null,"previous":null,"results":[{"gene_data":{"alias":["CPAMD4","C5a","C5b"],"biotype":"protein_coding","hgnc_id":"HGNC:1331","gene_name":"complement C5","omim_gene":["120900"],"alias_name":["prepro-C5","C5a anaphylatoxin"],"gene_symbol":"C5","hgnc_symbol":"C5","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"9:123714616-123812554","ensembl_id":"ENSG00000106804"}},"GRch38":{"90":{"location":"9:120952335-121050276","ensembl_id":"ENSG00000106804"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"C5","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["1999552"],"evidence":["Expert Review Red","Other"],"phenotypes":["discoid lupus erythematosus"],"mode_of_inheritance":"","tags":[],"panel":{"id":305,"hash_id":"568e844522c1fc1c78b67156","name":"Familial cicatricial alopecia","disease_group":"Dermatological disorders","disease_sub_group":"Skin adnexa disorders","status":"public","version":"1.2","version_created":"2019-06-20T15:15:02.358694Z","relevant_disorders":[],"stats":{"number_of_genes":25,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["CPAMD4","C5a","C5b"],"biotype":"protein_coding","hgnc_id":"HGNC:1331","gene_name":"complement C5","omim_gene":["120900"],"alias_name":["prepro-C5","C5a anaphylatoxin"],"gene_symbol":"C5","hgnc_symbol":"C5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:123714616-123812554","ensembl_id":"ENSG00000106804"}},"GRch38":{"90":{"location":"9:120952335-121050276","ensembl_id":"ENSG00000106804"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"C5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["1999552"],"evidence":["Expert Review Red"],"phenotypes":["discoid lupus erythematosus"],"mode_of_inheritance":"","tags":[],"panel":{"id":553,"hash_id":null,"name":"Ectodermal dysplasia","disease_group":"","disease_sub_group":"","status":"public","version":"0.22","version_created":"2019-09-17T19:00:33.930109Z","relevant_disorders":[],"stats":{"number_of_genes":71,"number_of_strs":0,"number_of_regions":0},"types":[{"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":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["CPAMD4","C5a","C5b"],"biotype":"protein_coding","hgnc_id":"HGNC:1331","gene_name":"complement C5","omim_gene":["120900"],"alias_name":["prepro-C5","C5a anaphylatoxin"],"gene_symbol":"C5","hgnc_symbol":"C5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:123714616-123812554","ensembl_id":"ENSG00000106804"}},"GRch38":{"90":{"location":"9:120952335-121050276","ensembl_id":"ENSG00000106804"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"C5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["7730648","19375167","25534848"],"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":["C5 deficiency, 609536","Complement component 5 deficiency","Susceptibility to invasive bacterial infection, especially meningococcal","Disseminated neisserial infections","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."}]}}]}
