Ataxia and cerebellar anomalies - childhood onset
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
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Coenzyme Q10 deficiency, primary 4, 612016
- Spinocerebellar Ataxia Type
- OMIM
- 606980
- Clinvar variants
- Variants in COQ8A
- Penetrance
- None
- Panels with this gene
-
- Ataxia and cerebellar anomalies - childhood onset
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Hereditary ataxia
- Fetal anomalies
- Rhabdomyolysis and metabolic muscle disorders
- Neurodegenerative disorders, adult onset
- Possible mitochondrial disorder, nuclear genes
- Likely inborn error of metabolism
- Intellectual disability
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary neuropathy
- Hereditary ataxia, adult onset
- Acute rhabdomyolysis
- DDG2P
- Mitochondrial disorders
- White matter disorders and cerebral calcification - childhood onset
- Hereditary neuropathy or pain disorder
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
9 Jan 2019, Gel status: 4
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: COQ8A were changed from Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type to Coenzyme Q10 deficiency, primary 4, 612016; Spinocerebellar Ataxia Type
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: COQ8A was added gene: COQ8A was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type