Mitochondrial disorders
Gene: COQ9EnsemblGeneIds (GRCh38): ENSG00000088682
EnsemblGeneIds (GRCh37): ENSG00000088682
OMIM: 612837, Gene2Phenotype
COQ9 is in 13 panels
3 reviews
Louise Daugherty (Genomics England Curator)
As a result of watchlist tag audit the watchlist tag will remain- even though this is now a green gene due to GMS recommendation based on one caseCreated: 13 Jan 2020, 4:34 p.m. | Last Modified: 13 Jan 2020, 4:34 p.m.
Panel Version: 2.3
Ellen McDonagh (Genomics England Curator)
Reviewed as part of the white matter disorder panel: Gene rated green and diagnostic-grade by expert reviewer, confirmed DD gene for COENZYME Q10 DEFICIENCY. Only case reported in OMIM, and no additional cases found in a literature search. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951 for Coenzyme Q10 deficiency, primary, 1. Green gene in the Mitochondrial panel version 1.7.Created: 6 Oct 2016, 12:48 p.m.
Comment on mode of inheritance: Confirmed on G2P and OMIM.Created: 26 Feb 2016, 4:56 p.m.
Comment on list classification: Promoted from red to green due to expert review and is a confirmed DD gene.Created: 26 Feb 2016, 4:56 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
-
- Disorders of ubiquinone metabolism and biosynthesis
- Coenzyme Q10 deficiency, primary, 5, 614654
- Coenzyme Q10 deficiency
- Tags
- OMIM
- 612837
- Clinvar variants
- Variants in COQ9
- Penetrance
- Complete
- Panels with this gene
-
- Early onset or syndromic epilepsy
- Inherited white matter disorders
- Proteinuric renal disease
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Neonatal diabetes
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Fetal anomalies
History Filter Activity
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to COQ9. 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 COQ9 were set to Disorders of ubiquinone metabolism and biosynthesis; Coenzyme Q10 deficiency, primary, 5, 614654; Coenzyme Q10 deficiency
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for COQ9 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)COQ9 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)COQ9 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)COQ9 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen