Possible mitochondrial disorder - nuclear genes
Gene: COX8A
Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 1 case with functional studiesCreated: 10 May 2019, 1:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Mitochondrial complex IV deficiency, 220110
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
?Mitochondrial complex IV deficiency, 220110
Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.Created: 29 Mar 2019, 2:29 p.m.
Comment on list classification: As this is reported in a single case, this should be a red gene until further evidence arises.Created: 15 Feb 2016, 11:17 a.m.
single mutation report in literatureCreated: 7 Feb 2016, 8:22 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Gene: cox8a has been classified as Amber List (Moderate Evidence).
gene: COX8A was added gene: COX8A was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: COX8A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX8A were set to ?Mitochondrial complex IV deficiency, 220110