Early onset or syndromic epilepsy

Gene: COQ2

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.

Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.

Panel Version: 1.189

Green List (high evidence)

AR primary coenzyme Q10 defic 1 - Assoc with 5 major forms - no clear genotype-phenotype correlations. They include an encephalomyopathic form with seizues and ataxia, a multisystem infantile form with encephalopathy and renal failure, a predom cerebellar form with ataxia and cerebellar atrophy, Leigh synd with growth retardation and an isolated myopathic form. The correct diagnosis is importnat as some patients may show a favourable response to CoQ10 treatment. Many cases reported with seizures mentioned as part of the phentype - Ogashara et al, 1989, Sobreira et al, 1997, Boiter et al, 1998, Musumeci et al, 2001, Lamperti et al, 2003.Mutations reported - mostly missense, but some nonsense and small dels.

Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.

Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Coenzyme Q10 deficiency primary, 607426

Publications

• 17855635

Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 3 variants reported in unrelated cases in which seizures are a phenotypic feature.

Created: 13 Nov 2018, 12:31 p.m.

Green List (high evidence)

Seizures are a key features of the encephalomyopathic and infantile multi-system presentations of CoQ10 deficiency.

Created: 12 Aug 2018, 1:54 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Coenzyme Q10 deficiency, primary, 1, MIM#607426

Variants in this GENE are reported as part of current diagnostic practice