{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8864","gene_name":"complement factor properdin","omim_gene":["300383"],"alias_name":null,"gene_symbol":"CFP","hgnc_symbol":"CFP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:47483612-47489704","ensembl_id":"ENSG00000126759"}},"GRch38":{"90":{"location":"X:47623172-47630305","ensembl_id":"ENSG00000126759"}}},"hgnc_date_symbol_changed":"2006-03-02"},"entity_type":"gene","entity_name":"CFP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["8530058","10909851","7151327","22229731","6903190"],"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":["Properdin deficiency","Properdin P factor complement deficiency (PFC)","Neisserial infections","Complement Deficiencies"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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:8864","gene_name":"complement factor properdin","omim_gene":["300383"],"alias_name":null,"gene_symbol":"CFP","hgnc_symbol":"CFP","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:47483612-47489704","ensembl_id":"ENSG00000126759"}},"GRch38":{"90":{"location":"X:47623172-47630305","ensembl_id":"ENSG00000126759"}}},"hgnc_date_symbol_changed":"2006-03-02"},"entity_type":"gene","entity_name":"CFP","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["26350204"],"evidence":["Expert Review Red"],"phenotypes":["Properdin deficiency, X-linked 312060"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":285,"hash_id":"558aa423bb5a16630e15b63c","name":"Intellectual disability","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neurodevelopmental disorders","status":"public","version":"2.1065","version_created":"2019-10-07T13:42:16.019766Z","relevant_disorders":["Coarse facial features including Coffin-Siris-like disorders","ID","Moderate","severe or profound intellectual disability","Schizophrenia plus additional features","Intellectual disability - microarray","fragile X and sequencing"],"stats":{"number_of_genes":2253,"number_of_strs":11,"number_of_regions":57},"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."},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}}]}