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Newborns main panel

Gene: COQ5

Green List (high evidence)
COQ5 (coenzyme Q5, methyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000110871
EnsemblGeneIds (GRCh37): ENSG00000110871
OMIM: 616359, Gene2Phenotype
COQ5 is in 7 panels

1 review

Arina Puzriakova (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF)
Created: 31 Dec 2025, 2:36 p.m. | Last Modified: 31 Dec 2025, 2:36 p.m.
Panel Version: 0.499
PMID: 21937992 - 1 family PMID: 29044765 - 1 family PMID: 37599337 - 1 family
Created: 31 Dec 2025, 2:27 p.m. | Last Modified: 31 Dec 2025, 2:27 p.m.
Panel Version: 0.498
Created: 31 Dec 2025, 2:27 p.m.
Last Modified: 31 Dec 2025, 2:27 p.m.
Panel version: 0.499

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • COQ5 related primary coenzyme Q10 deficiency
OMIM
616359
Clinvar variants
Variants in COQ5
Penetrance
None
Panels with this gene

History Filter Activity

31 Dec 2025, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: COQ5 was added gene: COQ5 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: COQ5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ5 were set to COQ5 related primary coenzyme Q10 deficiency