Possible mitochondrial disorder - nuclear genes
Gene: COQ5Comment 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, 1:21 p.m.
Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: One family (3 sibs) with homozygous 9.5kb duplication and functional studiesCreated: 10 May 2019, 1:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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
Gene: coq5 has been classified as Amber List (Moderate Evidence).
gene: COQ5 was added gene: COQ5 was added to Possible mitochondrial disorder - nuclear genes. 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