Mitochondrial disease
Gene: COQ9

COQ9 (coenzyme Q9)
EnsemblGeneIds (GRCh38): ENSG00000088682
EnsemblGeneIds (GRCh37): ENSG00000088682
OMIM: 612837, Gene2Phenotype
COQ9 is in 10 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

At least 3 families and an animal model.
Created: 4 May 2022, 3:04 a.m. | Last Modified: 4 May 2022, 3:04 a.m.

Panel Version: 0.13681

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Coenzyme Q10 deficiency, primary, 5, MIM#614654

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 4 May 2022, 3:04 a.m.
Last Modified: 4 May 2022, 3:04 a.m.
Panel version: Imported from Mendeliome panel version 0.13681

Details

Mode of Inheritance

Unknown

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Mitochondrial Flagship
Expert Review Green

OMIM

612837

Clinvar variants

Variants in COQ9

Penetrance

None

Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COQ9 was added gene: COQ9 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: COQ9 was set to Unknown

Mitochondrial disease Gene: COQ9