Unexplained kidney failure in young people
Gene: COQ2EnsemblGeneIds (GRCh38): ENSG00000173085
EnsemblGeneIds (GRCh37): ENSG00000173085
OMIM: 609825, Gene2Phenotype
COQ2 is in 17 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least five variants reportedCreated: 4 Aug 2016, 12:04 p.m.
Comment on phenotypes: Also associated with {Multiple system atrophy, susceptibility to} 146500Created: 4 Aug 2016, 12:04 p.m.
Comment on list classification: Promoted from Red to Green because this gene is Green in Version 1 of the Proteinuric renal disease gene panelCreated: 17 Jun 2016, 9:12 a.m.
Comment on list classification: Promoted from Red to Green because this gene is Green on the Proteinuric renal disease gene panelCreated: 17 Jun 2016, 8:38 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Eligibility statement prior genetic testing
- Phenotypes
-
- Coenzyme Q10 deficiency, primary, 1, OMIM:607426
- OMIM
- 609825
- Clinvar variants
- Variants in COQ2
- Penetrance
- Complete
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Unexplained kidney failure in young people
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Neonatal diabetes
- Retinal disorders
- Likely inborn error of metabolism
- Familial dysautonomia
- Possible mitochondrial disorder - nuclear genes
- Fetal anomalies
- Proteinuric renal disease
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: COQ2 were changed from Coenzyme Q10 deficiency, primary, 1 607426 to Coenzyme Q10 deficiency, primary, 1, OMIM:607426
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: COQ2 were changed from Coenzyme Q10 deficiency, primary, 1 607426 to Coenzyme Q10 deficiency, primary, 1 607426
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 17th August 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for COQ2 were set to Coenzyme Q10 deficiency, primary, 1 607426
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for COQ2 was changed to BIALLELIC, autosomal or pseudoautosomal
Upload gene information
Sarah Leigh (Genomics England Curator)COQ2 was added to Unexplained kidney failure in young peoplepanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for COQ2 were set to Coenzyme Q10 deficiency, primary, 1 607426; {Multiple system atrophy, susceptibility to} 146500
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for COQ2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Sarah Leigh (Genomics England Curator)COQ2 was added to Unexplained kidney failure in young peoplepanel. Sources: Eligibility statement prior genetic testing
Created
Sarah Leigh (Genomics England Curator)COQ2 was created by sleigh