Possible mitochondrial disorder - nuclear genes

Gene: CEP89

I don't know

Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: Implicated in complex IV deficiency; 1 case with deletion of this gene, but no other cases reported.

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

Mode of inheritance
Unknown

Phenotypes
No OMIM phenotype

Publications

• 23575228

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
No OMIM phenotype

Publications

• 23575228

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, 1:17 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, 2:35 p.m.

Comment on publications: PMID: 23575228

Created: 15 Feb 2016, 10:59 a.m.

Comment on list classification: Added by reviewer who states there has been a single mutation report in the literature, therefore this should be added as a red gene until more evidence arises.

Created: 15 Feb 2016, 10:58 a.m.

Green List (high evidence)

single mutation report in literature

Created: 7 Feb 2016, 8:25 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal