Possible mitochondrial disorder - nuclear genes

Gene: COX4I2

I don't know

Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 5 Arab patients with same homozygous variant (also homozygotes on gnomAD, so ?pathogenicity); complex IV subunit

Created: 10 May 2019, 1:02 p.m.

Mode of inheritance
Unknown

Phenotypes
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714

Publications

• 19268275

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.

Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714

Publications

• 19268275

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, 1:31 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 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.

Created: 29 Mar 2019, 2:27 p.m.

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