Familial dysautonomia
Gene: COQ2
COQ2 (coenzyme Q2, polyprenyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000173085
EnsemblGeneIds (GRCh37): ENSG00000173085
OMIM: 609825, Gene2Phenotype
COQ2 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000173085
EnsemblGeneIds (GRCh37): ENSG00000173085
OMIM: 609825, Gene2Phenotype
COQ2 is in 17 panels
1 review
Alice Gardham (Genomics England)
Data equivocal. May confer susceptibility rather than being causitiveCreated: 28 Nov 2016, 11:17 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Multiple system atrophy, susceptibility to, 146500
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Multiple system atrophy, susceptibility to, 146500
- OMIM
- 609825
- Clinvar variants
- Variants in COQ2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- DDG2P
- Neonatal diabetes
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Inherited white matter disorders
- Fetal anomalies
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- Likely inborn error of metabolism
- Intellectual disability
- Proteinuric renal disease
- Familial dysautonomia
- Unexplained kidney failure in young people
- Retinal disorders
- Adult onset neurodegenerative disorder
- White matter disorders and cerebral calcification - narrow panel
- Possible mitochondrial disorder - nuclear genes
History Filter Activity
1 Dec 2016, Gel status: 1
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on 1st December 2016 by Alice Gardham. Currently for pilot study only patients. Will need review following pilot study results.
28 Nov 2016, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
28 Nov 2016, Gel status: 0
Created
Alice Gardham (Genomics England)COQ2 was created by agardham
28 Nov 2016, Gel status: 0
Added New Source
Alice Gardham (Genomics England)COQ2 was added to Familial dysautonomiapanel. Sources: Literature