Mitochondrial disorders
Gene: COQ5The rating of this gene has been updated from Amber to Red following NHS Genomic Medicine Service approval.Created: 29 Jul 2022, 1:47 p.m. | Last Modified: 29 Jul 2022, 1:47 p.m.
Panel Version: 2.109
Three siblings reported, bi-allelic duplications in gene, said to lead to reduced CoQ10.Created: 18 Mar 2020, 7 a.m. | Last Modified: 18 Mar 2020, 7 a.m.
Panel Version: 2.5
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellar ataxia; encephalopathy; generalized tonic-clonic seizures; intellectual disability
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: 23 Jul 2019, 10:13 a.m. | Last Modified: 23 Jul 2019, 10:13 a.m.
Panel Version: 1.412
Source Expert Review Red was added to COQ5. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
gene: COQ5 was added gene: COQ5 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: COQ5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ5 were set to 29044765 Phenotypes for gene: COQ5 were set to No OMIM phenotype