This Panel is marked as Deleted
Mitochondrial disorders Victorian Clinical Genetics Services
Gene: COQ8A
COQ8A (coenzyme Q8A)
EnsemblGeneIds (GRCh38): ENSG00000163050
EnsemblGeneIds (GRCh37): ENSG00000163050
OMIM: 606980, Gene2Phenotype
COQ8A is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000163050
EnsemblGeneIds (GRCh37): ENSG00000163050
OMIM: 606980, Gene2Phenotype
COQ8A is in 18 panels
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 606980
- Clinvar variants
- Variants in COQ8A
- Penetrance
- None
- Panels with this gene
-
- Adult onset neurodegenerative disorder
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Hereditary neuropathy or pain disorder
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Fetal anomalies
- Mitochondrial disorders
- Hereditary ataxia with onset in adulthood
- Rhabdomyolysis and metabolic muscle disorders
- DDG2P
- Hereditary ataxia
- White matter disorders and cerebral calcification - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Likely inborn error of metabolism
- Hereditary neuropathy
- Acute rhabdomyolysis
- Ataxia and cerebellar anomalies - narrow panel
History Filter Activity
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)COQ8A was added to Mitochondrial disorders Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)COQ8A was created by Sarah Leigh