Possible mitochondrial disorder - nuclear genesGene: COQ6
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
Coenzyme Q10 deficiency, primary, 6, 614650
Comment on list classification: Promoted from red to green due to expert review, and the association reported in more than 3 families in PMID: 21540551.
Created: 26 Feb 2016, 4:53 p.m.
gene: COQ6 was added gene: COQ6 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: COQ6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ6 were set to Coenzyme Q10 deficiency, primary, 6, 614650