Likely inborn error of metabolism

Gene: COX4I2

Red List (low evidence)

Comment on phenotypes: Mitochondrial Diseases;Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)

Created: 27 Sep 2019, 11:58 a.m. | Last Modified: 27 Sep 2019, 11:58 a.m.

Panel Version: 1.301

Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
One homozygous variant (c.412G>A, p.E138K) reported in 5 Arab Muslim patients with exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis (612714) (PMID 19268275) and heterozygous variant (c.253C>T, p.R85W) found together with a heterozygous COX10 variant (c.1096G>T, p.V366L)(PMID 22592081).

Created: 27 Sep 2019, 11:55 a.m. | Last Modified: 27 Sep 2019, 3:22 p.m.

Panel Version: 1.311

An additional heterozygous variant (c.253C>T (p.R85W) rs149245323), in a patient with cytochrome-c oxidase deficiency who also heterozygous for a COX10 variant (COX10 c.1096G>T (p.V366L) rs111541535)(PMID 22592081).

Created: 30 Apr 2019, 2:31 p.m.

Publications

• 22592081

Comment on list classification: Single report in the literature suggested by reviewer therefore this should be a red gene.

Created: 8 Feb 2016, 1:47 p.m.

Green List (high evidence)

single report in literature

Created: 3 Feb 2016, 5:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal