Possible mitochondrial disorder - nuclear genes
Gene: COQ9
COQ9 (coenzyme Q9)
EnsemblGeneIds (GRCh38): ENSG00000088682
EnsemblGeneIds (GRCh37): ENSG00000088682
OMIM: 612837, Gene2Phenotype
COQ9 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000088682
EnsemblGeneIds (GRCh37): ENSG00000088682
OMIM: 612837, Gene2Phenotype
COQ9 is in 13 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, 5, 614654
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
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Coenzyme Q10 deficiency, primary, 5, 614654
- OMIM
- 612837
- Clinvar variants
- Variants in COQ9
- Penetrance
- None
- Panels with this gene
-
- Early onset or syndromic epilepsy
- Inherited white matter disorders
- Fetal anomalies
- 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
History Filter Activity
4 Feb 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: COQ9 was added gene: COQ9 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: COQ9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ9 were set to Coenzyme Q10 deficiency, primary, 5, 614654