Renal and urinary tract disorders
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: Imported from End-stage renal disease - childhood onset panel version 0.13

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

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

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Sarah Leigh: Comment on list classification

30 Jan 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

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

20 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: COQ6 was added gene: COQ6 was added to Renal and urinary tract disorders. Sources: Expert Review Green 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

Renal and urinary tract disorders Gene: COQ6