This Panel is marked as Internal
Renal and urinary tract disorders
Gene: COQ2
COQ2 (coenzyme Q2, polyprenyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000173085
EnsemblGeneIds (GRCh37): ENSG00000173085
OMIM: 609825, Gene2Phenotype
COQ2 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000173085
EnsemblGeneIds (GRCh37): ENSG00000173085
OMIM: 609825, Gene2Phenotype
COQ2 is in 17 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least five variants reportedCreated: 4 Aug 2016, 12:04 p.m.
Comment on phenotypes: Also associated with {Multiple system atrophy, susceptibility to} 146500Created: 4 Aug 2016, 12:04 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 panelCreated: 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 panelCreated: 17 Jun 2016, 8:38 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Coenzyme Q10 deficiency, primary, 1 301050
- OMIM
- 609825
- Clinvar variants
- Variants in COQ2
- Penetrance
- None
- Panels with this gene
-
- Likely inborn error of metabolism
- Neonatal diabetes
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Inherited white matter disorders
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Retinal disorders
- Familial dysautonomia
- Unexplained kidney failure in young people
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Proteinuric renal disease
- Early onset or syndromic epilepsy
- Fetal anomalies
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
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: COQ2 were changed from Coenzyme Q10 deficiency, primary, 1 to Coenzyme Q10 deficiency, primary, 1 301050
20 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: COQ2 was added gene: COQ2 was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ2 were set to Coenzyme Q10 deficiency, primary, 1