Possible mitochondrial disorder - nuclear genes
Gene: COQ7
Updated information and Green review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 3 unrelated individuals and functional studiesCreated: 10 May 2019, 1:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Coenzyme Q10 deficiency, primary, 8, 616733
Publications
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Coenzyme Q10 deficiency, primary, 8 616733
Publications
Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter. Three unrelated patients reported, with different variants causing amino acid changes.Created: 10 May 2019, 1:28 p.m.
Comment on list classification: Added by reviewer who stated that there is one report in the literature - this should therefore be a red gene.Created: 15 Feb 2016, 11:11 a.m.
single mutation report in literatureCreated: 7 Feb 2016, 8:11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Gene: coq7 has been classified as Green List (High Evidence).
Gene: coq7 has been classified as Green List (High Evidence).
Publications for gene: COQ7 were set to 28409910
gene: COQ7 was added gene: COQ7 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ7 were set to 28409910 Phenotypes for gene: COQ7 were set to ?Coenzyme Q10 deficiency, primary, 8 616733