{"count":4,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:1248","gene_name":"complement C2","omim_gene":["613927"],"alias_name":null,"gene_symbol":"C2","hgnc_symbol":"C2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:31865562-31913449","ensembl_id":"ENSG00000166278"}},"GRch38":{"90":{"location":"6:31897785-31945672","ensembl_id":"ENSG00000166278"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"C2","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["6902670"],"evidence":["Expert Review Red","Other"],"phenotypes":["discoid lupus erythematosus","discoid (cutaneous) lupus"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:1248","gene_name":"complement C2","omim_gene":["613927"],"alias_name":null,"gene_symbol":"C2","hgnc_symbol":"C2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:31865562-31913449","ensembl_id":"ENSG00000166278"}},"GRch38":{"90":{"location":"6:31897785-31945672","ensembl_id":"ENSG00000166278"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"C2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["6902670"],"evidence":["Expert Review Red"],"phenotypes":["discoid (cutaneous) lupus","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:1248","gene_name":"complement C2","omim_gene":["613927"],"alias_name":null,"gene_symbol":"C2","hgnc_symbol":"C2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:31865562-31913449","ensembl_id":"ENSG00000166278"}},"GRch38":{"90":{"location":"6:31897785-31945672","ensembl_id":"ENSG00000166278"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"C2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["1577763","8621452","11079100","15643297","7901282"],"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":["Complement Component C2 Deficiency","C2 deficiency, 217000","Immunodeficiency due to C1, C4, or C2 component complement deficiency","Lupus","SLE, infections with encapsulated organisms, atherosclerosis","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."}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:1248","gene_name":"complement C2","omim_gene":["613927"],"alias_name":null,"gene_symbol":"C2","hgnc_symbol":"C2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:31865562-31913449","ensembl_id":"ENSG00000166278"}},"GRch38":{"90":{"location":"6:31897785-31945672","ensembl_id":"ENSG00000166278"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"C2","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Red"],"phenotypes":["Macular Degeneration"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":307,"hash_id":"56e0238b22c1fc09c97a6e46","name":"Retinal disorders","disease_group":"Ophthalmological disorders","disease_sub_group":"Posterior segment abnormalities","status":"public","version":"1.199","version_created":"2019-10-08T09:22:18.436205Z","relevant_disorders":["Posterior segment abnormalities","Cone Dysfunction Syndrome","Developmental macular and foveal dystrophy","Inherited macular dystrophy","Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy","Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy","Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy","Rod Dysfunction Syndrome","Rod-cone dystrophy","Familial exudative vitreoretinopathy","Familial exudative retinopathy","R32","R33","R34","R35"],"stats":{"number_of_genes":320,"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 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."}]}}]}