{"count":7,"next":null,"previous":null,"results":[{"gene_data":{"alias":["GP91-PHOX","NOX2"],"biotype":"protein_coding","hgnc_id":"HGNC:2578","gene_name":"cytochrome b-245 beta chain","omim_gene":["300481"],"alias_name":["NADPH oxidase 2"],"gene_symbol":"CYBB","hgnc_symbol":"CYBB","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:37639264-37672714","ensembl_id":"ENSG00000165168"}},"GRch38":{"90":{"location":"X:37780011-37813461","ensembl_id":"ENSG00000165168"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"CYBB","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Other"],"phenotypes":["Chronic granulomatous disease, X-linked, 306400","CGD","discoid lupus erythematosus"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","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":["GP91-PHOX","NOX2"],"biotype":"protein_coding","hgnc_id":"HGNC:2578","gene_name":"cytochrome b-245 beta chain","omim_gene":["300481"],"alias_name":["NADPH oxidase 2"],"gene_symbol":"CYBB","hgnc_symbol":"CYBB","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:37639264-37672714","ensembl_id":"ENSG00000165168"}},"GRch38":{"90":{"location":"X:37780011-37813461","ensembl_id":"ENSG00000165168"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"CYBB","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Emory Genetics Laboratory","Radboud University Medical Center, Nijmegen","UKGTN","Expert list"],"phenotypes":["Chronic granulomatous disease, X-linked 306400"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":["gene-therapy-trial"],"panel":{"id":176,"hash_id":"56ba026c22c1fc5025762b50","name":"Infantile enterocolitis & monogenic inflammatory bowel disease","disease_group":"Gastroenterological disorders","disease_sub_group":"Gastrointestinal disorders","status":"public","version":"1.16","version_created":"2017-11-05T02:37:20.171671Z","relevant_disorders":["Infantile enterocolitis and monogenic inflammatory bowel disease"],"stats":{"number_of_genes":62,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["GP91-PHOX","NOX2"],"biotype":"protein_coding","hgnc_id":"HGNC:2578","gene_name":"cytochrome b-245 beta chain","omim_gene":["300481"],"alias_name":["NADPH oxidase 2"],"gene_symbol":"CYBB","hgnc_symbol":"CYBB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:37639264-37672714","ensembl_id":"ENSG00000165168"}},"GRch38":{"90":{"location":"X:37780011-37813461","ensembl_id":"ENSG00000165168"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"CYBB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","ClinicalTrials.gov"],"phenotypes":["Granulomatous Disease, Chronic, X-linked"],"mode_of_inheritance":"","tags":[],"panel":{"id":412,"hash_id":null,"name":"Gene therapy clinical trials","disease_group":"Actionable information","disease_sub_group":"Clinical trials","status":"public","version":"0.7","version_created":"2019-06-20T15:11:44.609881Z","relevant_disorders":[],"stats":{"number_of_genes":21,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Actionable","slug":"actionable","description":"Actionable"}]}},{"gene_data":{"alias":["GP91-PHOX","NOX2"],"biotype":"protein_coding","hgnc_id":"HGNC:2578","gene_name":"cytochrome b-245 beta chain","omim_gene":["300481"],"alias_name":["NADPH oxidase 2"],"gene_symbol":"CYBB","hgnc_symbol":"CYBB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:37639264-37672714","ensembl_id":"ENSG00000165168"}},"GRch38":{"90":{"location":"X:37780011-37813461","ensembl_id":"ENSG00000165168"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"CYBB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Emory Genetics Laboratory"],"phenotypes":["Early Onset Inflammatory Bowel Disease","Chronic granulomatous disease, X-linked 306400"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":33,"hash_id":"56ba026422c1fc5025762b4f","name":"Gastrointestinal epithelial barrier disorders","disease_group":"Gastroenterological disorders","disease_sub_group":"Gastrointestinal disorders","status":"public","version":"1.59","version_created":"2019-06-20T15:11:44.535737Z","relevant_disorders":[],"stats":{"number_of_genes":82,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["GP91-PHOX","NOX2"],"biotype":"protein_coding","hgnc_id":"HGNC:2578","gene_name":"cytochrome b-245 beta chain","omim_gene":["300481"],"alias_name":["NADPH oxidase 2"],"gene_symbol":"CYBB","hgnc_symbol":"CYBB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:37639264-37672714","ensembl_id":"ENSG00000165168"}},"GRch38":{"90":{"location":"X:37780011-37813461","ensembl_id":"ENSG00000165168"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"CYBB","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red"],"phenotypes":["CGD","Chronic granulomatous disease, X-linked, 306400","discoid lupus erythematosus"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","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":["GP91-PHOX","NOX2"],"biotype":"protein_coding","hgnc_id":"HGNC:2578","gene_name":"cytochrome b-245 beta chain","omim_gene":["300481"],"alias_name":["NADPH oxidase 2"],"gene_symbol":"CYBB","hgnc_symbol":"CYBB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:37639264-37672714","ensembl_id":"ENSG00000165168"}},"GRch38":{"90":{"location":"X:37780011-37813461","ensembl_id":"ENSG00000165168"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"CYBB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Chillblain lupus","Discoid lupus erythematosus"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":565,"hash_id":null,"name":"Rare genetic inflammatory skin disorders","disease_group":"","disease_sub_group":"","status":"public","version":"0.14","version_created":"2019-09-09T15:38:40.627314Z","relevant_disorders":[],"stats":{"number_of_genes":60,"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":["GP91-PHOX","NOX2"],"biotype":"protein_coding","hgnc_id":"HGNC:2578","gene_name":"cytochrome b-245 beta chain","omim_gene":["300481"],"alias_name":["NADPH oxidase 2"],"gene_symbol":"CYBB","hgnc_symbol":"CYBB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:37639264-37672714","ensembl_id":"ENSG00000165168"}},"GRch38":{"90":{"location":"X:37780011-37813461","ensembl_id":"ENSG00000165168"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"CYBB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["2556453","1710153","17293536"],"evidence":["NHS GMS","North West GLH","London North GLH","Expert Review Green","GOSH PID v.8.0","GRID V2.0","IUIS Classification February 2018","ESID Registry 20171117","Victorian Clinical Genetics Services"],"phenotypes":["Immunodeficiency 34, mycobacteriosis, X-linked, 300645","Chronic granulomatous disease, X-linked, 306400","Chronic granulomatous disease (CGD)","Defects with susceptibility to mycobacterial infection (MSMD)","Infections, autoinflammatory phenotype, IBD, McLeod phenotype in patients with deletions extending into the contiguous Kell locus","Congenital defects of phagocyte number or function","Isolated susceptibility to mycobacteria","Defects in Intrinsic and Innate Immunity"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":["gene-therapy-trial"],"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."}]}}]}
