Genes in panel
STRs in panel
Prev Next

Undiagnosed metabolic disorders

Gene: COQ7

Green List (high evidence)

COQ7 (coenzyme Q7, hydroxylase)
EnsemblGeneIds (GRCh38): ENSG00000167186
EnsemblGeneIds (GRCh37): ENSG00000167186
OMIM: 601683, Gene2Phenotype
COQ7 is in 5 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 2 variants reported in unrelated cases, together with supportive functional studies.
Created: 30 Sep 2019, 10:27 a.m. | Last Modified: 30 Sep 2019, 10:27 a.m.
Panel Version: 1.349
This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 3 unrelated individuals and functional studies. From panel: Possible mitochondrial disorder - nuclear genes (Version 0.187).
Sources: Literature
Created: 30 Sep 2019, 10:26 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Coenzyme Q10 deficiency, primary, 8 616733

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • ?Coenzyme Q10 deficiency, primary, 8 616733
OMIM
601683
Clinvar variants
Variants in COQ7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Sep 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: coq7 has been classified as Green List (High Evidence).

30 Sep 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Sarah Leigh (Genomics England Curator)

gene: COQ7 was added gene: COQ7 was added to Undiagnosed metabolic disorders. Sources: Literature Mode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ7 were set to 26084283; 28409910 Phenotypes for gene: COQ7 were set to ?Coenzyme Q10 deficiency, primary, 8 616733 Review for gene: COQ7 was set to GREEN