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virtual (i.e. could be a wet lab test)"},{"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":["BTHS","XAP-2","G4.5","TAZ1"],"biotype":"protein_coding","hgnc_id":"HGNC:11577","gene_name":"tafazzin","omim_gene":["300394"],"alias_name":["Barth syndrome"],"gene_symbol":"TAZ","hgnc_symbol":"TAZ","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153639854-153650065","ensembl_id":"ENSG00000102125"}},"GRch38":{"90":{"location":"X:154411518-154421726","ensembl_id":"ENSG00000102125"}}},"hgnc_date_symbol_changed":"1989-05-29"},"entity_type":"gene","entity_name":"TAZ","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308"],"evidence":["London South GLH","Expert Review Green","London South GLH","Expert Review Green"],"phenotypes":["Disorders of mitochondrial lipid metabolism","Dilated Cardiomyopathy, X-Linked","Barth syndrome, 302060","Methylglutaconic aciduria type II, Barth syndrome (Organic acidurias)","Left Ventricular Noncompaction Cardiomyopathy","Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only))"],"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":750,"hash_id":null,"name":"Sudden cardiac death","disease_group":"","disease_sub_group":"","status":"public","version":"0.10","version_created":"2019-09-24T10:05:54.784946Z","relevant_disorders":["Molecular autopsy","R138"],"stats":{"number_of_genes":119,"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 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."}]}}]}
