Unexplained kidney failure in young people
Gene: COQ6

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

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least six variants reported
Created: 4 Aug 2016, 12:11 p.m.

Comment on list classification: Promoted from Red to Green because this gene is Green in Version 1 of the Proteinuric renal disease gene panel
Created: 17 Jun 2016, 9:12 a.m.

Comment on list classification: Promoted from Red to Green because this gene is Green on the Proteinuric renal disease gene panel
Created: 17 Jun 2016, 8:38 a.m.

Created: 17 Jun 2016, 8:38 a.m.

Panel version: 0.13

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen
Emory Genetics Laboratory
UKGTN
Eligibility statement prior genetic testing

Phenotypes

Coenzyme Q10 deficiency, primary, 6 614650

OMIM

614647

Clinvar variants

Variants in COQ6

Penetrance

Complete

Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: COQ6 were changed from Coenzyme Q10 deficiency, primary, 6 614650 to Coenzyme Q10 deficiency, primary, 6 614650

17 Aug 2016, Gel status: 4