Possible mitochondrial disorder - nuclear genesGene: COX6A1
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
Charcot-Marie-Tooth disease, recessive intermediate D, 616039
Comment when marking as ready: Overall rated green by four reviewers.
Created: 26 Feb 2016, 5:09 p.m.
Comment on mode of inheritance: Affected patients were homozygous for a 5bp deletion reported in PMID: 25152455.
Created: 26 Feb 2016, 5:08 p.m.
Comment on list classification: Rated green on this panel, and green by 3 reviewers on the Charcot-Marie Tooth panel, therefore promoted from red to green.
Created: 26 Feb 2016, 5:02 p.m.
two reports in literature
Created: 4 Feb 2016, 1:22 p.m.
gene: COX6A1 was added gene: COX6A1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: COX6A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX6A1 were set to Charcot-Marie-Tooth disease, recessive intermediate D, 616039