Retinal disorders
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
1 review
Sarah Leigh (Genomics England Curator)
Associated with Coenzyme Q10 deficiency, primary, 7, OMIM:616276 and as strong Gen2Phen gene for this condition. PMID: 36266294 reports two variants in a case with retinitis pigmentosa.
Sources: LiteratureCreated: 25 Oct 2022, 11:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Coenzyme Q10 deficiency, primary, 7, OMIM:616276; neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, MONDO:0014562
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Literature
- Phenotypes
-
- Coenzyme Q10 deficiency, primary, 7, OMIM:616276
- neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, MONDO:0014562
- OMIM
- 612898
- Clinvar variants
- Variants in COQ4
- Penetrance
- None
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Fetal anomalies
- Childhood onset dystonia, chorea or related movement disorder
- Retinal disorders
- DDG2P
- Likely inborn error of metabolism
- Mitochondrial disorders
- Acute rhabdomyolysis
- Rhabdomyolysis and metabolic muscle disorders
- Intellectual disability
- Early onset or syndromic epilepsy
- Adult onset hereditary spastic paraplegia
- Possible mitochondrial disorder - nuclear genes
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
History Filter Activity
25 Oct 2022, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sarah Leigh (Genomics England Curator)gene: COQ4 was added gene: COQ4 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ4 were set to 36266294 Phenotypes for gene: COQ4 were set to Coenzyme Q10 deficiency, primary, 7, OMIM:616276; neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, MONDO:0014562 Review for gene: COQ4 was set to RED