Possible mitochondrial disorder - nuclear genes
Gene: CEP89
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
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
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: 23575228Created: 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.
single mutation report in literatureCreated: 7 Feb 2016, 8:25 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Gene: cep89 has been classified as Amber List (Moderate Evidence).
Gene: cep89 has been classified as Amber List (Moderate Evidence).
gene: CEP89 was added gene: CEP89 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CEP89 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP89 were set to 23575228 Phenotypes for gene: CEP89 were set to No OMIM phenotype