Mitochondrial disorder with complex IV deficiency

Gene: COX16

The OMIM entry for this gene is OMIM:618064, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.

Created: 16 Oct 2023, 8:38 p.m. | Last Modified: 16 Oct 2023, 8:38 p.m.

Panel Version: 3.2

I don't know

Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, supporting the Amber rating of this gene on this panel based on current evidence.

Created: 30 Aug 2022, 9:30 a.m. | Last Modified: 30 Aug 2022, 9:30 a.m.

Panel Version: 1.18

2 unrelated patients with the same homozygous (non-consanguineous) nonsense variant c.244C>T (p.Arg82*), and isolated complex IV deficiency present in both patient fibroblasts/skeletal muscle biopsy. COX16 is involved in the biogenesis of complex IV, the terminal complex of the mitochondrial respiratory chain. Leaving rating as Amber but further cases would help corroborate this gene-disease association.

Created: 29 Jul 2022, 2:56 p.m. | Last Modified: 29 Jul 2022, 2:56 p.m.

Panel Version: 1.16

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex IV deficiency, nuclear type 22, OMIM:619355

Publications

• 33169484

Variants in this GENE are reported as part of current diagnostic practice

I don't know

Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: no reports of human disease; complex IV assembly factor

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

Mode of inheritance
Unknown

Phenotypes
No OMIM phenotype

Publications

• none found

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, 11:58 a.m.

Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently 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, 11:39 a.m.

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: COX16; Suggested intial gene rating: Green.

Created: 1 Feb 2019, 4:34 p.m.

Mode of inheritance
Unknown

Phenotypes
No OMIM phenotype