Mitochondrial disorder with complex IV deficiency

Gene: COX8A

I don't know

Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 1 case with functional studies

Created: 10 May 2019, 11:13 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Mitochondrial complex IV deficiency, 220110

Publications

• 26685157

Green List (high evidence)

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: COX8A; Suggested intial gene rating: Green; Information provided: 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

Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.

Created: 10 May 2019, 12:04 p.m.

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 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.

Created: 29 Mar 2019, 11:42 a.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.

Green List (high evidence)

single mutation report in literature

Created: 7 Feb 2016, 8:22 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal