Early onset or syndromic epilepsy
Gene: COQ6
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: Alison Callaway and John Taylor. Suggested gene rating: Amber.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Insufficient evidence, most cases are associated with nephrotic syndrome.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, 6, 614650
Publications
Seizures are a less common feature of this CoQ10 deficiency syndrome. Merits Amber or could consider Green for consistency.Created: 12 Aug 2018, 2 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Coenzyme Q10 deficiency, primary, 6, MIM#614650
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to COQ6.
Source NHS GMS was added to COQ6.
Zornitza Stark: Seizures are a less common fea
Gene: coq6 has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: COQ6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ6 were changed from to Coenzyme Q10 deficiency, primary, 6, 614650
Expert Review Amber was added to COQ6. Panel: Genetic Epilepsy Syndromes
COQ6 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
COQ6 was created by Sarah Leigh