Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Possible mitochondrial disorder - nuclear genes

Gene: COQ9

Green List (high evidence)

COQ9 (coenzyme Q9)
EnsemblGeneIds (GRCh38): ENSG00000088682
EnsemblGeneIds (GRCh37): ENSG00000088682
OMIM: 612837, Gene2Phenotype
COQ9 is in 14 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Coenzyme Q10 deficiency, primary, 5, 614654

Ellen McDonagh (Genomics England Curator)

I don't know

Reviewed as part of the white matter disorder panel: Gene rated green and diagnostic-grade by expert reviewer, confirmed DD gene for COENZYME Q10 DEFICIENCY. Only case reported in OMIM, and no additional cases found in a literature search. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951 for Coenzyme Q10 deficiency, primary, 1. Green gene in the Mitochondrial panel version 1.7.
Created: 6 Oct 2016, 12:48 p.m.
Comment on mode of inheritance: Confirmed on G2P and OMIM.
Created: 26 Feb 2016, 4:56 p.m.
Comment on list classification: Promoted from red to green due to expert review and is a confirmed DD gene.
Created: 26 Feb 2016, 4:56 p.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

History Filter Activity

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: COQ9 was added gene: COQ9 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: COQ9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ9 were set to Coenzyme Q10 deficiency, primary, 5, 614654