Early onset or syndromic epilepsy
Gene: COQ4
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 7 - Resulting from mitochondrial dysfunction - most patients have onset of severe cardaic or neurologic symptoms soon after birth resulting in death. Brea-Calvo et al, 2015 - 6 patients from 4 unrelated families - severe mito disorder assoc with decreased CoQ10 levels. 2 sibs born of unrelated parents presented with hypotonia, bradycardia and resp insuffic. an unrelated patient died of HCM on first day of life. 2 sibs from a 3rd family had neonatal resp distress, cerebellar hypoplasia, fatal epileptic encephalopathy. Final patient - 18 years old - early norm dev but progressive motor deterioration at 10 months age, seizures at 12 years.Identified 6 diff hom or compound het variants.segregated with the disorder and in vitro func studies done. Chung et al, 2015 - 6 girls from 4 unrelated families - all death between 36 hours-19 months. Common features included encephalopathy with EEG abnormalities, neonatal seizures, cerebellar atrophy and HCM. Identified biallelic missense mutations - segregated with the disorder in families. 2 unrelated patients both of AJ descent had the same R240C variant - consistent with founder effect.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, 616276
Publications
Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 6 variants reported in unrelated cases in which seizures are a phenotypic feature.Created: 13 Nov 2018, 1:16 p.m.
This disorder can present with epileptic encephalopathy.Created: 12 Aug 2018, 1:57 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Coenzyme Q10 deficiency, primary, 7, MIM#616276
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to COQ4.
Source NHS GMS was added to COQ4.
Zornitza Stark: This disorder can present with
Gene: coq4 has been classified as Green List (High Evidence).
Gene: coq4 has been classified as Green List (High Evidence).
Phenotypes for gene: COQ4 were changed from to Coenzyme Q10 deficiency, primary, 7 616276
Publications for gene: COQ4 were set to
Mode of inheritance for gene: COQ4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Expert Review Amber was added to COQ4. Panel: Genetic Epilepsy Syndromes
COQ4 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
COQ4 was created by Sarah Leigh