Possible mitochondrial disorder, nuclear genes
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
3 reviews
Ivone Leong (Genomics England Curator)
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, 1, 607426
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Confirmed on G2P and OMIM.Created: 26 Feb 2016, 4:31 p.m.
Comment on list classification: Promoted gene from red to green - confirmed DD gene, and green review.Created: 26 Feb 2016, 4:31 p.m.
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Coenzyme Q10 deficiency, primary, 1, OMIM:607426
- OMIM
- 609825
- Clinvar variants
- Variants in COQ2
- Penetrance
- None
- Panels with this gene
-
- Possible mitochondrial disorder, nuclear genes
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Neurodegenerative disorders, adult onset
- DDG2P
- Proteinuric renal disease
- Neonatal diabetes
- Familial dysautonomia
- Intellectual disability
- Unexplained kidney failure in young people
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Retinal disorders
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- White matter disorders and cerebral calcification - childhood onset
- Fetal anomalies
History Filter Activity
3 Aug 2021, Gel status: 3
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: COQ2 were changed from Coenzyme Q10 deficiency, primary, 1, 607426 to Coenzyme Q10 deficiency, primary, 1, OMIM:607426
4 Feb 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: COQ2 was added gene: COQ2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS 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, 607426