This Panel is marked as Deleted
Kidneyome_SuperPanel_VCGS
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
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- KidGen_Tubulopathies v38.1.0
- Phenotypes
-
- Coenzyme Q10 deficiency, primary, 5
- OMIM #614654
- OMIM
- 612837
- Clinvar variants
- Variants in COQ9
- Penetrance
- None
- Publications
- Panels with this gene
-
- Likely inborn error of metabolism
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Proteinuric renal disease
- Early onset or syndromic epilepsy
- Neonatal diabetes
- Undiagnosed metabolic disorders
- Fetal anomalies
- DDG2P
- Inherited white matter disorders
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
History Filter Activity
28 Jan 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: COQ9 was added gene: COQ9 was added to Kidneyome_SuperPanel_VCGS. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Red Mode of inheritance for gene: COQ9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ9 were set to 11562630 Phenotypes for gene: COQ9 were set to Coenzyme Q10 deficiency, primary, 5; OMIM #614654