Hereditary ataxia
Gene: COQ8AEnsemblGeneIds (GRCh38): ENSG00000163050
EnsemblGeneIds (GRCh37): ENSG00000163050
OMIM: 606980, Gene2Phenotype
COQ8A is in 18 panels
3 reviews
Louise Daugherty (Genomics England Curator)
added new-gene-name tagCreated: 9 Dec 2016, 1:39 p.m.
Damian Smedley (Genomics England Curator)
Comment on list classification: Evidence from expert reviewer and OMIMCreated: 4 Feb 2016, 2 p.m.
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)
Fine. Lots of evidence in literature, positives in our cohortCreated: 24 Nov 2015, 4:56 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Coenzyme Q10 deficiency, primary 4, 612016
- Spinocerebellar Ataxia Type
- OMIM
- 606980
- Clinvar variants
- Variants in COQ8A
- Penetrance
- Complete
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
- Mitochondrial disorders
- DDG2P
- Intellectual disability
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Acute rhabdomyolysis
- Ataxia and cerebellar anomalies - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Hereditary ataxia
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
History Filter Activity
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
Changed Gene Name
GEL ()ADCK3 was changed to COQ8A
Removed Tag
GEL ()new-gene-name was removed from ADCK3. Panel: Hereditary ataxia
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ADCK3 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)ADCK3 was added to Hereditary ataxiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)ADCK3 was added to Hereditary ataxiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN