Likely inborn error of metabolism - targeted testing not possible
Gene: COQ2Comment on phenotypes: Previously:
{Multiple system atrophy, susceptibility to}, 146500;Coenzyme Q10 deficiency;Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Disorders of ubiquinone metabolism and biosynthesis;Coenzyme Q10 deficiency, primary, 1, 607426Created: 3 Aug 2021, 2:41 p.m. | Last Modified: 3 Aug 2021, 2:41 p.m.
Panel Version: 2.156
Comment on mode of inheritance: Confirmed on G2P and OMIM.Created: 26 Feb 2016, 4:31 p.m.
Comment on list classification: Promoted gene from red to green - confirmed DD gene, and green review.Created: 26 Feb 2016, 4:31 p.m.
Phenotypes for gene: COQ2 were changed from {Multiple system atrophy, susceptibility to}, 146500; Coenzyme Q10 deficiency; Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of ubiquinone metabolism and biosynthesis; Coenzyme Q10 deficiency, primary, 1, 607426 to Coenzyme Q10 deficiency, primary, 1, OMIM:607426
Source NHS GMS was added to COQ2. Source London North GLH was added to COQ2.
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
Added phenotypes {Multiple system atrophy, susceptibility to}, 146500; Coenzyme Q10 deficiency; Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of ubiquinone metabolism and biosynthesis; Coenzyme Q10 deficiency, primary, 1, 607426 for gene: COQ2 Publications for gene COQ2 were changed from to 27604308
gene: COQ2 was added gene: COQ2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ2 were set to {Multiple system atrophy, susceptibility to}, 146500; Coenzyme Q10 deficiency; Disorders of ubiquinone metabolism and biosynthesis; Coenzyme Q10 deficiency, primary, 1, 607426