This Panel is marked as Deleted
Mitochondrial disorders Victorian Clinical Genetics Services
Gene: COQ4
COQ4 (coenzyme Q4)
EnsemblGeneIds (GRCh38): ENSG00000167113
EnsemblGeneIds (GRCh37): ENSG00000167113
OMIM: 612898, Gene2Phenotype
COQ4 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000167113
EnsemblGeneIds (GRCh37): ENSG00000167113
OMIM: 612898, Gene2Phenotype
COQ4 is in 15 panels
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 612898
- Clinvar variants
- Variants in COQ4
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- Retinal disorders
- Undiagnosed metabolic disorders
- Ataxia and cerebellar anomalies - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
- Early onset or syndromic epilepsy
- Fetal anomalies
- Mitochondrial disorders
- Hereditary ataxia with onset in adulthood
- Rhabdomyolysis and metabolic muscle disorders
- DDG2P
- Adult onset hereditary spastic paraplegia
- Possible mitochondrial disorder - nuclear genes
- Likely inborn error of metabolism
- Acute rhabdomyolysis
History Filter Activity
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)COQ4 was added to Mitochondrial disorders Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)COQ4 was created by Sarah Leigh