Intellectual disability update Jan 2018
Gene: COQ2

COQ2 (coenzyme Q2, polyprenyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000173085
EnsemblGeneIds (GRCh37): ENSG00000173085
OMIM: 609825, Gene2Phenotype
COQ2 is in 17 panels

1 review

Eleanor Williams (Genomics England Curator)

Comment on list classification: Associated with Coenzyme Q10 deficiency, primary, 1 (MIM:607426)
{Multiple system atrophy, susceptibility to} (MIM:146500)
in OMIM but no evidence found of association with Intellectual Disability in OMIM, Gene2Phenotype or PubMed searches.
Created: 1 Mar 2018, 3:04 p.m.

Created: 1 Mar 2018, 2:16 p.m.

Panel version: 0.233

Details

Sources

Expert Review Red
Radboud University Medical Center, Nijmegen

Phenotypes

Coenzyme Q10 deficiency, primary, 1 607426
{Multiple system atrophy, susceptibility to} 146500

OMIM

609825

Clinvar variants

Variants in COQ2

Penetrance

None

Panels with this gene

History Filter Activity

1 Mar 2018, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for COQ2 were set to Coenzyme Q10 deficiency, primary, 1 607426; {Multiple system atrophy, susceptibility to} 146500

1 Mar 2018, Gel status: 1

Gene classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

18 Dec 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

COQ2 was added to Intellectual disability update Jan 2018 panel. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red