Mitochondrial disorder with complex IV deficiency
Gene: COX14
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. Gene Symbol submitted: COX14; Suggested intial gene rating: Green. Mode of inheritance and phenotype.Created: 1 Feb 2019, 4:34 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Mitochondrial complex IV deficiency, 220110
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Both reviewers agree this should be promoted from red to green, and one reports variants within this gene as part of diagnostic practice. It is a possible DD gene for mitochondrial complex IV deficiency.Created: 10 Feb 2016, 11:55 a.m.
Comment on mode of inheritance: Confirmed on OMIM and G2P.Created: 10 Feb 2016, 11:53 a.m.
aka C12orf62;
single mutation report in literatureCreated: 4 Feb 2016, 1:11 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
gene: COX14 was added gene: COX14 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: COX14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX14 were set to ?Mitochondrial complex IV deficiency, 220110