Acute rhabdomyolysis
Gene: COQ8A
This gene has been confirmed for this panel by the NHS Genomic Medicine Service and should be rated green.Created: 16 Feb 2022, 2:31 p.m. | Last Modified: 16 Feb 2022, 2:31 p.m.
Panel Version: 0.6
COQ8A is not currently on the GMS 'Rhabdomyolysis and metabolic muscle disorders panel' (version 1.75) panel. Coenzyme Q10 deficiency is a heterogeneous disease with multple causal genes, typically inherited in an autosomal recessive pattern (including COQ8A/ADCK3). Variants in COQ8A cause a juvenile-onset cerebellar ataxia with primary CoQ10 deficiency. Some patients display muscle weakness and exercise intolerance (typically with elevated serum lactate) early in the course of disease but it is not clear if this is associated with rhabdomyolysis although this may be plausible following physical exertion.Created: 19 Jan 2022, 5:51 p.m. | Last Modified: 19 Jan 2022, 5:51 p.m.
Panel Version: 0.3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Coenzyme Q10 deficiency, primary, 4, OMIM:612016
Publications
Gene: coq8a has been classified as Green List (High Evidence).
gene: COQ8A was added gene: COQ8A was added to Acute rhabdomyolysis. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ8A were set to 18319072; 22036850; 26818466; 18319074 Phenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, primary, 4, OMIM:612016