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Genetic epilepsy syndromes

Gene: COQ2

Green List (high evidence)

COQ2 (coenzyme Q2, polyprenyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000173085
EnsemblGeneIds (GRCh37): ENSG00000173085
OMIM: 609825, Gene2Phenotype
COQ2 is in 19 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 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

Sarah Leigh (Genomics England Curator)

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.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

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 COQ2.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to COQ2.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are a key features of

13 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: coq2 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: coq2 has been classified as Green List (High Evidence).

13 Nov 2018, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: COQ2 were set to

13 Nov 2018, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: COQ2 were changed from to Coenzyme Q10 deficiency, primary, 1 607426

13 Nov 2018, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: COQ2 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 COQ2. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

COQ2 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

COQ2 was created by Sarah Leigh