Hereditary ataxia with onset in adulthood
Gene: COQ8AEnsemblGeneIds (GRCh38): ENSG00000163050
EnsemblGeneIds (GRCh37): ENSG00000163050
OMIM: 606980, Gene2Phenotype
COQ8A is in 18 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Tracy Lester (Genetics laboratory, Oxford UK)
Multiple patients in literature and our own cohort. Deletions identified but no MLPA kit availableCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary coenzyme Q10 deficiency 4, 612016
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Hereditary ataxia v1.148
- Phenotypes
-
- Spinocerebellar Ataxia Type
- Primary coenzyme Q10 deficiency 4, 612016
- Coenzyme Q10 deficiency, primary 4, 612016
- OMIM
- 606980
- Clinvar variants
- Variants in COQ8A
- Penetrance
- None
- Panels with this gene
-
- Hereditary neuropathy or pain disorder
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Hereditary ataxia
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Rhabdomyolysis and metabolic muscle disorders
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Hereditary neuropathy
- Fetal anomalies
History Filter Activity
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Primary coenzyme Q10 deficiency 4, 612016 for gene: COQ8A
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to COQ8A.
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to COQ8A.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked panel against panel constituents. Ready to promote to version 1.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: COQ8A were changed from Coenzyme Q10 deficiency, primary 4, 612016; Spinocerebellar Ataxia Type to Coenzyme Q10 deficiency, primary 4, 612016; Spinocerebellar Ataxia Type
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
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: COQ8A was added gene: COQ8A was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,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