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STRs in panel
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Inborn errors of metabolism

Gene: COQ4

Green List (high evidence)

COQ4 (coenzyme Q4)
EnsemblGeneIds (GRCh38): ENSG00000167113
EnsemblGeneIds (GRCh37): ENSG00000167113
OMIM: 612898, Gene2Phenotype
COQ4 is in 9 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)

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Disorders of ubiquinone metabolism and biosynthesis
  • Coenzyme Q10 deficiency, primary, 7
OMIM
612898
Clinvar variants
Variants in COQ4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to COQ4. Source London North GLH was added to COQ4.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of ubiquinone metabolism and biosynthesis; Coenzyme Q10 deficiency, primary, 7 for gene: COQ4 Publications for gene COQ4 were changed from to 27604308

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: COQ4 was added gene: COQ4 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ4 were set to Disorders of ubiquinone metabolism and biosynthesis; Coenzyme Q10 deficiency, primary, 7