Mitochondrial disorders
Gene: COQ4EnsemblGeneIds (GRCh38): ENSG00000167113
EnsemblGeneIds (GRCh37): ENSG00000167113
OMIM: 612898, Gene2Phenotype
COQ4 is in 15 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Confirmed on G2P and OMIM.Created: 26 Feb 2016, 4:38 p.m.
Comment on list classification: Promoted from red to green due to expert review, evidence on OMIM and probable DD gene status.Created: 26 Feb 2016, 4:37 p.m.
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert list
- Expert
- Phenotypes
-
- Coenzyme Q10 deficiency, primary, 7, OMIM:616276
- OMIM
- 612898
- Clinvar variants
- Variants in COQ4
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Mitochondrial disorders
- DDG2P
- Retinal disorders
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Acute rhabdomyolysis
- Ataxia and cerebellar anomalies - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Early onset or syndromic epilepsy
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Undiagnosed metabolic disorders
History Filter Activity
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: COQ4 were changed from Coenzyme Q10 deficiency, primary, 7, OMIM:616276 to Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: COQ4 were changed from Coenzyme Q10 deficiency, primary, 7, OMIM:616276 to Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: COQ4 were changed from Coenzyme Q10 deficiency, primary, 7, OMIM:616276 to Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: COQ4 were changed from Coenzyme Q10 deficiency, primary, 7; Disorders of ubiquinone metabolism and biosynthesis to Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to COQ4. Panel: Mitochondrial disorders
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for COQ4 were set to Coenzyme Q10 deficiency, primary, 7; Disorders of ubiquinone metabolism and biosynthesis
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for COQ4 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)COQ4 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)COQ4 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)COQ4 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen