Possible mitochondrial disorder - nuclear genes
Gene: COQ6

COQ6 (coenzyme Q6, monooxygenase)
EnsemblGeneIds (GRCh38): ENSG00000119723
EnsemblGeneIds (GRCh37): ENSG00000119723
OMIM: 614647, Gene2Phenotype
COQ6 is in 8 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Coenzyme Q10 deficiency, primary, 6, 614650

Created: 4 Feb 2019, 1:36 p.m.

Panel version: 0.5

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red to green due to expert review, and the association reported in more than 3 families in PMID: 21540551.
Created: 26 Feb 2016, 4:53 p.m.

Created: 26 Feb 2016, 4:50 p.m.

Panel version: Imported from Mitochondrial disorders panel version 0.370

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:30 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0.37

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green

Phenotypes

Coenzyme Q10 deficiency, primary, 6, 614650

OMIM

614647

Clinvar variants

Variants in COQ6

Penetrance

None

Panels with this gene

History Filter Activity

4 Feb 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: COQ6 was added gene: COQ6 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: COQ6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ6 were set to Coenzyme Q10 deficiency, primary, 6, 614650

Possible mitochondrial disorder - nuclear genes Gene: COQ6