Mitochondrial disorders
Gene: COQ7

COQ7 (coenzyme Q7, hydroxylase)
EnsemblGeneIds (GRCh38): ENSG00000167186
EnsemblGeneIds (GRCh37): ENSG00000167186
OMIM: 601683, Gene2Phenotype
COQ7 is in 7 panels

3 reviews

Sarah Leigh (Genomics England Curator)

I don't know

Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 3 unrelated individuals and functional studies.
From panel: Possible mitochondrial disorder - nuclear genes (Version 0.187).
Created: 23 May 2019, 1:28 p.m.

An additional variant has been reported in a 6‐year‐old girl who presents with spasticity and bilateral sensorineural hearing loss, together with supporting functional studies and mouse model.
Created: 30 Apr 2019, 12:50 p.m.

Publications

Created: 30 Apr 2019, 12:50 p.m.

Panel version: 2.0

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Added by reviewer who stated that there is one report in the literature - this should therefore be a red gene.
Created: 15 Feb 2016, 11:11 a.m.

Created: 15 Feb 2016, 11:11 a.m.

Panel version: 0.288

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

single mutation report in literature
Created: 7 Feb 2016, 8:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 7 Feb 2016, 8:11 a.m.

Panel version: 0.17

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

?Coenzyme Q10 deficiency, primary, 8 616733
complex multisystem presentation

OMIM

601683

Clinvar variants

Variants in COQ7

Penetrance

Complete

Publications

Panels with this gene