{"count":7,"next":null,"previous":null,"results":[{"gene_data":{"alias":["STAT113"],"biotype":"protein_coding","hgnc_id":"HGNC:11363","gene_name":"signal transducer and activator of transcription 2","omim_gene":["600556"],"alias_name":null,"gene_symbol":"STAT2","hgnc_symbol":"STAT2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"12:56735381-56753939","ensembl_id":"ENSG00000170581"}},"GRch38":{"90":{"location":"12:56341597-56360155","ensembl_id":"ENSG00000170581"}}},"hgnc_date_symbol_changed":"1995-11-08"},"entity_type":"gene","entity_name":"STAT2","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["23143594"],"evidence":["Expert Review Red","Radboud University Medical Center, Nijmegen"],"phenotypes":["Immunodeficiency 44\t616636"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":132,"hash_id":"5616435a22c1fc212900fbd1","name":"Generalised pustular psoriasis","disease_group":"Dermatological disorders","disease_sub_group":"Autoimmune skin disorders","status":"public","version":"1.8","version_created":"2017-11-05T02:37:20.087444Z","relevant_disorders":[],"stats":{"number_of_genes":12,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["STAT113"],"biotype":"protein_coding","hgnc_id":"HGNC:11363","gene_name":"signal transducer and activator of transcription 2","omim_gene":["600556"],"alias_name":null,"gene_symbol":"STAT2","hgnc_symbol":"STAT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:56735381-56753939","ensembl_id":"ENSG00000170581"}},"GRch38":{"90":{"location":"12:56341597-56360155","ensembl_id":"ENSG00000170581"}}},"hgnc_date_symbol_changed":"1995-11-08"},"entity_type":"gene","entity_name":"STAT2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["23391734","26122121","28087227"],"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":["STAT2 deficiency","Predisposition to several viral infection","Immunodeficiency 44, 616636","Severe viral infections (disseminated vaccine-strain measles)","Defects in Intrinsic and Innate Immunity"],"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":["STAT113"],"biotype":"protein_coding","hgnc_id":"HGNC:11363","gene_name":"signal transducer and activator of transcription 2","omim_gene":["600556"],"alias_name":null,"gene_symbol":"STAT2","hgnc_symbol":"STAT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:56735381-56753939","ensembl_id":"ENSG00000170581"}},"GRch38":{"90":{"location":"12:56341597-56360155","ensembl_id":"ENSG00000170581"}}},"hgnc_date_symbol_changed":"1995-11-08"},"entity_type":"gene","entity_name":"STAT2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Amber","Other"],"phenotypes":["Immunodeficiency 44 616636"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":302,"hash_id":"5763f1518f620350a22bccdb","name":"Undiagnosed metabolic disorders","disease_group":"Metabolic disorders","disease_sub_group":"Specific metabolic abnormalities","status":"public","version":"1.373","version_created":"2019-10-08T14:47:17.153678Z","relevant_disorders":["Undiagnosed Metabolic Panel"],"stats":{"number_of_genes":744,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["STAT113"],"biotype":"protein_coding","hgnc_id":"HGNC:11363","gene_name":"signal transducer and activator of transcription 2","omim_gene":["600556"],"alias_name":null,"gene_symbol":"STAT2","hgnc_symbol":"STAT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:56735381-56753939","ensembl_id":"ENSG00000170581"}},"GRch38":{"90":{"location":"12:56341597-56360155","ensembl_id":"ENSG00000170581"}}},"hgnc_date_symbol_changed":"1995-11-08"},"entity_type":"gene","entity_name":"STAT2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["PMID: 26122121"],"evidence":["Expert Review Amber"],"phenotypes":["Immunodeficiency 44 616636","elongated mitochondria","severe neurological deterioration following viral infection"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":467,"hash_id":null,"name":"Inborn errors of metabolism","disease_group":"","disease_sub_group":"","status":"public","version":"1.348","version_created":"2019-10-09T08:19:52.386941Z","relevant_disorders":["Likely inborn error of metabolism - targeted testing not possible"],"stats":{"number_of_genes":877,"number_of_strs":2,"number_of_regions":1},"types":[{"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"}]}},{"gene_data":{"alias":["STAT113"],"biotype":"protein_coding","hgnc_id":"HGNC:11363","gene_name":"signal transducer and activator of transcription 2","omim_gene":["600556"],"alias_name":null,"gene_symbol":"STAT2","hgnc_symbol":"STAT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:56735381-56753939","ensembl_id":"ENSG00000170581"}},"GRch38":{"90":{"location":"12:56341597-56360155","ensembl_id":"ENSG00000170581"}}},"hgnc_date_symbol_changed":"1995-11-08"},"entity_type":"gene","entity_name":"STAT2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Red"],"phenotypes":["Immunodeficiency 44, 616636"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":539,"hash_id":null,"name":"Possible mitochondrial disorder - nuclear genes","disease_group":"","disease_sub_group":"","status":"public","version":"1.12","version_created":"2019-09-16T14:57:01.996850Z","relevant_disorders":["R63"],"stats":{"number_of_genes":374,"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":"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."}]}},{"gene_data":{"alias":["STAT113"],"biotype":"protein_coding","hgnc_id":"HGNC:11363","gene_name":"signal transducer and activator of transcription 2","omim_gene":["600556"],"alias_name":null,"gene_symbol":"STAT2","hgnc_symbol":"STAT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:56735381-56753939","ensembl_id":"ENSG00000170581"}},"GRch38":{"90":{"location":"12:56341597-56360155","ensembl_id":"ENSG00000170581"}}},"hgnc_date_symbol_changed":"1995-11-08"},"entity_type":"gene","entity_name":"STAT2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["26408653","26122121"],"evidence":["DD-Gene2Phenotype","Expert Review Red"],"phenotypes":["Recessive gain of function causing increased interferon signalling","Viral induced severe multiorgan dysfunction associated with impaired mitochondrial fission"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":484,"hash_id":null,"name":"DDG2P","disease_group":"","disease_sub_group":"","status":"public","version":"1.137","version_created":"2019-10-08T15:56:59.220133Z","relevant_disorders":[],"stats":{"number_of_genes":1893,"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":["STAT113"],"biotype":"protein_coding","hgnc_id":"HGNC:11363","gene_name":"signal transducer and activator of transcription 2","omim_gene":["600556"],"alias_name":null,"gene_symbol":"STAT2","hgnc_symbol":"STAT2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"12:56735381-56753939","ensembl_id":"ENSG00000170581"}},"GRch38":{"90":{"location":"12:56341597-56360155","ensembl_id":"ENSG00000170581"}}},"hgnc_date_symbol_changed":"1995-11-08"},"entity_type":"gene","entity_name":"STAT2","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["26122121","28087227","23391734"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services","Expert list"],"phenotypes":["severe neurological deterioration following viral infection","elongated mitochondria","Immunodeficiency 44, 616636"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":112,"hash_id":"55928cf522c1fc4f7d26e960","name":"Mitochondrial disorders","disease_group":"Metabolic disorders","disease_sub_group":"Mitochondrial","status":"public","version":"2.1","version_created":"2019-10-01T15:59:44.993681Z","relevant_disorders":["Lactic acidosis","All recognised syndromes and those with suggestive features"],"stats":{"number_of_genes":467,"number_of_strs":2,"number_of_regions":1},"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"},{"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."}]}}]}
