Mitochondrial disorders
Gene: COQ2EnsemblGeneIds (GRCh38): ENSG00000173085
EnsemblGeneIds (GRCh37): ENSG00000173085
OMIM: 609825, Gene2Phenotype
COQ2 is in 17 panels
3 reviews
Ivone Leong (Genomics England Curator)
Comment on phenotypes: Previously:
Disorders of ubiquinone metabolism and biosynthesis;Coenzyme Q10 deficiency, primary, 1, 607426;Coenzyme Q10 deficiency;{Multiple system atrophy, susceptibility to}, 146500Created: 3 Aug 2021, 2:39 p.m. | Last Modified: 3 Aug 2021, 2:39 p.m.
Panel Version: 2.48
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
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert list
- Expert
- Phenotypes
-
- Coenzyme Q10 deficiency, primary, 1, OMIM:607426
- OMIM
- 609825
- Clinvar variants
- Variants in COQ2
- Penetrance
- Complete
- 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
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: COQ2 were changed from Disorders of ubiquinone metabolism and biosynthesis; Coenzyme Q10 deficiency, primary, 1, 607426; Coenzyme Q10 deficiency; {Multiple system atrophy, susceptibility to}, 146500 to Coenzyme Q10 deficiency, primary, 1, OMIM:607426
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to COQ2. Panel: Mitochondrial disorders
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for COQ2 were set to Disorders of ubiquinone metabolism and biosynthesis; Coenzyme Q10 deficiency, primary, 1, 607426; Coenzyme Q10 deficiency; {Multiple system atrophy, susceptibility to}, 146500
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for COQ2 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)COQ2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)COQ2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)COQ2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen