Early onset or syndromic epilepsy
Gene: COQ9
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 5. Rahman et al, 2001 - boy - 7th child of healthy unrelated Pakistani parents - presented on day 1 with poor feeding, hypothermia and seizures - muscle biopsy at 10 months showed CoQ10 defic. Fam history showed that 1 sib had died on day 1 with seizures, aminoacdiuria and acidosis and the mother had had 5 first trimester miscarriages - hom stop mutation detected. Danhauser et al, 2016 - male infant born to consang Turkish parents = had seizures amonst other features and died at 18 days old - hom splice site mutation.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, 614654
Publications
Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for Coenzyme Q10 deficiency, primary, 5, 614654, although seizures are not mentioned. At least 2 loss of function variants have been reported in two unrelated cases. In vitro studies show that expression of wildtype COQ9 in patient cells carrying homozygous c.521+1del can rescue reduced activity of mitochondrial complex II/III and restore CoQ10 and COQ7 levels (PMID 26081641)Created: 13 Nov 2018, 1:32 p.m.
Seizures are a prominent feature.Created: 12 Aug 2018, 2:01 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Coenzyme Q10 deficiency, primary, 5, MIM#614654
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to COQ9.
Source NHS GMS was added to COQ9.
Zornitza Stark: Seizures are a prominent featu
Gene: coq9 has been classified as Green List (High Evidence).
Publications for gene: COQ9 were set to
Gene: coq9 has been classified as Green List (High Evidence).
Mode of inheritance for gene: COQ9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ9 were changed from to Coenzyme Q10 deficiency, primary, 5, 614654
Expert Review Amber was added to COQ9. Panel: Genetic Epilepsy Syndromes
COQ9 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
COQ9 was created by Sarah Leigh