Inherited white matter disorders
Gene: COQ8AEnsemblGeneIds (GRCh38): ENSG00000163050
EnsemblGeneIds (GRCh37): ENSG00000163050
OMIM: 606980, Gene2Phenotype
COQ8A is in 18 panels
2 reviews
Louise Daugherty (Genomics England Curator)
added new-gene-name tagCreated: 9 Dec 2016, 1:36 p.m.
Ellen McDonagh (Genomics England Curator)
The HGNC-approved symbol for this gene is now COQ8A.Created: 26 Aug 2016, 11:33 a.m.
Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer, (is on the Combined leukodystrophy/mitochondrial leukoencephalopathy 94-gene panel submitted to the UKGTN by Leeds Genetics Laboratory). It is a confirmed DD gene for COENZYME Q10 DEFICIENCY, more than 3 unrelated cases with different variants reported in OMIM. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951 for Coenzyme Q10 deficiency, primary, 4. Green gene in the Mitochondrial panel version 1.10.
Created: 26 Aug 2016, 11:32 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Coenzyme Q10 deficiency, primary, 4
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Coenzyme Q10 deficiency, primary 4, 612016
- Spinocerebellar Ataxia Type
- OMIM
- 606980
- Clinvar variants
- Variants in COQ8A
- Penetrance
- Complete
- Publications
- 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, primary, 4 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: Inherited white matter disorders
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Ellen McDonagh (Genomics England Curator)ADCK3 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)ADCK3 was added to Inherited white matter disorderspanel. Sources: Expert list