Mitochondrial disorders
Gene: COQ9As a result of watchlist tag audit the watchlist tag will remain- even though this is now a green gene due to GMS recommendation based on one caseCreated: 13 Jan 2020, 4:34 p.m. | Last Modified: 13 Jan 2020, 4:34 p.m.
Panel Version: 2.3
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.
Victorian Clinical Genetics Services was added to COQ9. Panel: Mitochondrial disorders
This gene has been classified as Green List (High Evidence).
Phenotypes for COQ9 were set to Disorders of ubiquinone metabolism and biosynthesis; Coenzyme Q10 deficiency, primary, 5, 614654; Coenzyme Q10 deficiency
Mode of inheritance for COQ9 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
COQ9 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
COQ9 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
COQ9 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen