Proteinuric renal disease
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
1 review
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, February 2019 on behalf of the GMS Renal Specialist Test Group. Gene Symbol submitted: COQ9; Suggested initial gene rating: red; Evidence for inclusion: PMID: 19375058; Other comments: One report in the literature of patient with mitochondiral respiratory chain disease including renal tubular dysfunction and homozygous COQ9 variant (MAF 0.002%)Created: 4 Feb 2019, 10:41 a.m.
Phenotypes
Coenzyme Q10 deficiency, primary, 5 #614654
Publications
- PMID: 19375058
Variants in this GENE are reported as part of current diagnostic practice
Details
- Sources
-
- NHS GMS
- Phenotypes
-
- Coenzyme Q10 deficiency, primary, 5 #614654
- OMIM
- 612837
- Clinvar variants
- Variants in COQ9
- Penetrance
- None
- Publications
- 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
24 Jun 2019, Gel status: 1
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: COQ9 were changed from to Coenzyme Q10 deficiency, primary, 5 #614654
24 Jun 2019, Gel status: 1
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: COQ9 were set to
4 Feb 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: COQ9 was added gene: COQ9 was added to Proteinuric renal disease. Sources: NHS GMS Mode of inheritance for gene: COQ9 was set to