Possible mitochondrial disorder - nuclear genes
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
4 reviews
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Coenzyme Q10 deficiency, primary, 4, 612016
Louise Daugherty (Genomics England Curator)
added new-gene-name tagCreated: 9 Dec 2016, 1:24 p.m.
Shamima Rahman (UCL Institute of Child Health)
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Source: G2P and OMIM.Created: 10 Feb 2016, 10:58 a.m.
Comment on list classification: Confirmed DD gene for Coenzyme Q10 deficiency, and expert review states this should be promoted from red to green.Created: 10 Feb 2016, 10:57 a.m.
This gene was submitted as "CABC1" in the expert list, which is likely to correspond to this HGNC-approved symbol.Created: 1 Jul 2015, 10:42 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Coenzyme Q10 deficiency, primary, 4, 612016
- OMIM
- 606980
- Clinvar variants
- Variants in COQ8A
- Penetrance
- None
- 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
4 Feb 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: COQ8A was added gene: COQ8A was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, primary, 4, 612016