Mitochondrial disease

Gene: COQ2

Green List (high evidence)

Bi-allelic variants in this gene have clinically been associated with:
encephalomyopathic form with seizures and ataxia
multisystem infantile form with encephalopathy, cardiomyopathy and renal failure
predominantly cerebellar form with ataxia and cerebellar atrophy
Leigh syndrome with growth retardation
an isolated myopathic form

However, note molecular basis has not been determined in most patients reported. More than 5 families reported with confirmed variants in this gene.

Created: 30 Apr 2021, 10:26 a.m. | Last Modified: 30 Apr 2021, 10:26 a.m.

Panel Version: 0.615

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Coenzyme Q10 deficiency, primary, 1, MIM# 607426; MONDO:0011829

Publications

• 16400613
• 17332895
• 17855635