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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":["T1"],"biotype":"protein_coding","hgnc_id":"HGNC:10990","gene_name":"solute carrier family 25 member 4","omim_gene":["103220"],"alias_name":null,"gene_symbol":"SLC25A4","hgnc_symbol":"SLC25A4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:186064395-186071536","ensembl_id":"ENSG00000151729"}},"GRch38":{"90":{"location":"4:185143241-185150382","ensembl_id":"ENSG00000151729"}}},"hgnc_date_symbol_changed":"1989-05-19"},"entity_type":"gene","entity_name":"SLC25A4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27532257","25732997"],"evidence":["London South GLH","North West GLH","Expert Review Green","London South GLH","North West GLH","Expert Review Green"],"phenotypes":["Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418","Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 (609283)","Disorders of mitochondrial protein transport","Hypertrophic cardiomyopathy","Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR (615418)","Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions","Required for mtDNA maintenance  (Mitochondrial respiratory chain disorders (caused by nuclear variants only))","Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD (617184)","Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283","Disorders of mitochondrial DNA maintenance and integrity"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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."}]}}]}