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Possible mitochondrial disorder - nuclear genes

Gene: COQ4

Green List (high evidence)

COQ4 (coenzyme Q4)
EnsemblGeneIds (GRCh38): ENSG00000167113
EnsemblGeneIds (GRCh37): ENSG00000167113
OMIM: 612898, Gene2Phenotype
COQ4 is in 10 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

Phenotypes
Coenzyme Q10 deficiency, primary, 7, 616276

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)

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: COQ4 was added gene: COQ4 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ4 were set to Coenzyme Q10 deficiency, primary, 7, 616276