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Genetic epilepsy syndromes

Gene: COQ4

Green List (high evidence)

COQ4 (coenzyme Q4)
EnsemblGeneIds (GRCh38): ENSG00000167113
EnsemblGeneIds (GRCh37): ENSG00000167113
OMIM: 612898, Gene2Phenotype
COQ4 is in 9 panels

4 reviews

Rebecca Foulger (Genomics England curator)

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

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

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

Sarah Leigh (Genomics England Curator)

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.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Coenzyme Q10 deficiency, primary, 7 616276
OMIM
612898
Clinvar variants
Variants in COQ4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to COQ4.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to COQ4.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: This disorder can present with

13 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: coq4 has been classified as Green List (High Evidence).

13 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: coq4 has been classified as Green List (High Evidence).

13 Nov 2018, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: COQ4 were changed from to Coenzyme Q10 deficiency, primary, 7 616276

13 Nov 2018, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: COQ4 were set to

13 Nov 2018, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: COQ4 was changed from to BIALLELIC, autosomal or pseudoautosomal

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to COQ4. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

COQ4 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

COQ4 was created by Sarah Leigh