Mitochondrial disorders
Gene: COQ2Comment on phenotypes: Previously:
Disorders of ubiquinone metabolism and biosynthesis;Coenzyme Q10 deficiency, primary, 1, 607426;Coenzyme Q10 deficiency;{Multiple system atrophy, susceptibility to}, 146500Created: 3 Aug 2021, 2:39 p.m. | Last Modified: 3 Aug 2021, 2:39 p.m.
Panel Version: 2.48
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 Disorders of ubiquinone metabolism and biosynthesis; Coenzyme Q10 deficiency, primary, 1, 607426; Coenzyme Q10 deficiency; {Multiple system atrophy, susceptibility to}, 146500 to Coenzyme Q10 deficiency, primary, 1, OMIM:607426
Victorian Clinical Genetics Services was added to COQ2. Panel: Mitochondrial disorders
This gene has been classified as Green List (High Evidence).
Phenotypes for COQ2 were set to Disorders of ubiquinone metabolism and biosynthesis; Coenzyme Q10 deficiency, primary, 1, 607426; Coenzyme Q10 deficiency; {Multiple system atrophy, susceptibility to}, 146500
Mode of inheritance for COQ2 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
COQ2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
COQ2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
COQ2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen