Early onset or syndromic epilepsy
Gene: COQ2
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
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
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.
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
Phenotypes for gene: COQ2 were changed from Coenzyme Q10 deficiency, primary, 1 607426 to Coenzyme Q10 deficiency, primary, 1, OMIM:607426
Source Wessex and West Midlands GLH was added to COQ2.
Source NHS GMS was added to COQ2.
Zornitza Stark: Seizures are a key features of
Gene: coq2 has been classified as Green List (High Evidence).
Gene: coq2 has been classified as Green List (High Evidence).
Publications for gene: COQ2 were set to
Phenotypes for gene: COQ2 were changed from to Coenzyme Q10 deficiency, primary, 1 607426
Mode of inheritance for gene: COQ2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Expert Review Amber was added to COQ2. Panel: Genetic Epilepsy Syndromes
COQ2 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
COQ2 was created by Sarah Leigh