Leukodystrophy Victorian Clinical Genetics Services
Gene: COQ2EnsemblGeneIds (GRCh38): ENSG00000173085
EnsemblGeneIds (GRCh37): ENSG00000173085
OMIM: 609825, Gene2Phenotype
COQ2 is in 17 panels
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Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 609825
- Clinvar variants
- Variants in COQ2
- Penetrance
- None
- Panels with this gene
-
- Retinal disorders
- Neonatal diabetes
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Intellectual disability
- Familial dysautonomia
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Unexplained kidney failure in young people
- DDG2P
- Proteinuric renal disease
- White matter disorders and cerebral calcification - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Early onset or syndromic epilepsy
- Fetal anomalies
History Filter Activity
Added New Source
Sarah Leigh (Genomics England Curator)COQ2 was added to Leukodystrophy Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
Created
Sarah Leigh (Genomics England Curator)COQ2 was created by Sarah Leigh