Rhabdomyolysis and metabolic muscle disorders

Gene: COQ8A

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to "BIALLELIC, autosomal or pseudoautosomal" following NHS Genomic Medicine Service approval.

Created: 11 Oct 2023, 11:17 a.m. | Last Modified: 11 Oct 2023, 11:41 a.m.

Panel Version: 3.37

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Green List (high evidence)

Comment on list classification: As recommended by Natalie Bibb and Andrew Swale, this gene is proposed for promotion to green as it is already green on the acute rhabdomyolysis panel (R419, https://panelapp.genomicsengland.co.uk/panels/1141/) based on recommendation by the NHS Genomic Medicine Service.

Created: 23 Aug 2023, 5:43 p.m. | Last Modified: 23 Aug 2023, 5:43 p.m.

Panel Version: 3.28

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.

PMID:32337771 reported a cohort of 59 individuals with 44 pathogenic COQ8A variants and presenting with variable multisystemic, early-onset cerebellar ataxia, with complicating features ranging from epilepsy (32%) and cognitive impairment (49%) to exercise intolerance (25%) and hyperkinetic movement disorders (41%), including dystonia and myoclonus.
Sources: Expert list, Expert Review

Created: 23 Aug 2023, 5:42 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Coenzyme Q10 deficiency, primary, 4, OMIM:612016

Publications

• 26818466
• 22036850
• 18319074
• 18319072
• 32337771