Mitochondrial disorder with complex IV deficiency
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, 11:13 a.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. Gene Symbol submitted: CEP89; Suggested intial gene rating: Green; Information provided: Mode of inheritance and publication.Created: 1 Feb 2019, 4:34 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
No OMIM phenotype
Publications
Comment on list classification: Confirmed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019 that this gene should be Amber on this panel due to the evidence level; only a single report has been published.Created: 25 Feb 2019, 5:03 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 Mitochondrial disorder with complex IV deficiency. 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