Leukodystrophy - paediatric
Gene: COQ8A
COQ8A (coenzyme Q8A)
EnsemblGeneIds (GRCh38): ENSG00000163050
EnsemblGeneIds (GRCh37): ENSG00000163050
OMIM: 606980, Gene2Phenotype
COQ8A is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000163050
EnsemblGeneIds (GRCh37): ENSG00000163050
OMIM: 606980, Gene2Phenotype
COQ8A is in 13 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
White matter changes don't appear to be a prominent feature of the condition.
Sources: Expert listCreated: 18 Jan 2020, 2:50 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Coenzyme Q10 deficiency, primary, 4 612016
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- Phenotypes
-
- Coenzyme Q10 deficiency, primary, 4 612016
- OMIM
- 606980
- Clinvar variants
- Variants in COQ8A
- Penetrance
- None
- Panels with this gene
-
- Rhabdomyolysis and Metabolic Myopathy
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - paediatric
- Prepair 1000+
- Dystonia - complex
- Proteinuria
- Mendeliome
- BabyScreen+ newborn screening
- Mitochondrial disease
- Intellectual disability syndromic and non-syndromic
- Ataxia - paediatric
- Genetic Epilepsy
History Filter Activity
18 Jan 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: COQ8A was added gene: COQ8A was added to Leukodystrophy - paediatric_RMH. Sources: Expert list 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 Review for gene: COQ8A was set to RED