Likely inborn error of metabolism - targeted testing not possible
Gene: COQ9
Reviewed as part of the white matter disorder panel: Gene rated green and diagnostic-grade by expert reviewer, confirmed DD gene for COENZYME Q10 DEFICIENCY. Only case reported in OMIM, and no additional cases found in a literature search. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951 for Coenzyme Q10 deficiency, primary, 1. Green gene in the Mitochondrial panel version 1.7.Created: 6 Oct 2016, 12:48 p.m.
Comment on mode of inheritance: Confirmed on G2P and OMIM.Created: 26 Feb 2016, 4:56 p.m.
Comment on list classification: Promoted from red to green due to expert review and is a confirmed DD gene.Created: 26 Feb 2016, 4:56 p.m.
Source NHS GMS was added to COQ9. Source London North GLH was added to COQ9.
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
Added phenotypes Coenzyme Q10 deficiency, primary, 5, 614654; Coenzyme Q10 deficiency; Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of ubiquinone metabolism and biosynthesis for gene: COQ9 Publications for gene COQ9 were changed from to 27604308
gene: COQ9 was added gene: COQ9 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COQ9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ9 were set to Coenzyme Q10 deficiency, primary, 5, 614654; Coenzyme Q10 deficiency; Disorders of ubiquinone metabolism and biosynthesis