Newborns main panel
Gene: COQ4

COQ4 (coenzyme Q4)
EnsemblGeneIds (GRCh38): ENSG00000167113
EnsemblGeneIds (GRCh37): ENSG00000167113
OMIM: 612898, Gene2Phenotype
COQ4 is in 15 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Newborns Variant Discussion (NVD) recommended.

Additional Information: PVs in exons 1-4 cause a milder phenotype which is likely to respond to treatment. PVs in exons 5-7 usually neonatal onset and less responsive to treatment. Consider NVD if uncertain whether to report variant(s).
Created: 25 Sep 2024, 2:55 p.m. | Last Modified: 25 Sep 2024, 2:55 p.m.

Panel Version: 0.469

Created: 25 Sep 2024, 2:55 p.m.
Last Modified: 25 Sep 2024, 2:55 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.

Panel Version: 0.137

PMID: 35154243 - review of 38 patients
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.134

Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

COQ4 related primary coenzyme Q10 deficiency

Tags

special_consideration

OMIM

612898

Clinvar variants

Variants in COQ4

Penetrance

None

Panels with this gene

History Filter Activity

25 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: COQ4.

7 Feb 2024, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: COQ4 were changed from Coenzyme Q10 deficiency, primary, 7 to COQ4 related primary coenzyme Q10 deficiency

14 Sep 2023, Gel status: 3