Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
Gene: COQ7

COQ7 (coenzyme Q7, hydroxylase)
EnsemblGeneIds (GRCh38): ENSG00000167186
EnsemblGeneIds (GRCh37): ENSG00000167186
OMIM: 601683, Gene2Phenotype
COQ7 is in 7 panels

3 reviews

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

4 families
Created: 4 May 2022, 2:37 a.m. | Last Modified: 4 May 2022, 2:37 a.m.

Panel Version: 0.13678

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Coenzyme Q10 deficiency, primary, 8 MIM#616733

Publications

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

Created: 4 May 2022, 2:37 a.m.
Last Modified: 4 May 2022, 2:37 a.m.
Panel version: Imported from Mendeliome panel version 0.13678

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

only 2 patients reported
Created: 16 Jan 2020, 3:34 a.m. | Last Modified: 16 Jan 2020, 3:37 a.m.

Panel Version: 0.38

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Coenzyme Q10 deficiency, primary, 8; OMIM #616733

Publications

PubMed: 26084283

Created: 16 Jan 2020, 3:34 a.m.
Last Modified: 16 Jan 2020, 3:37 a.m.
Panel version: 0.37

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three individuals described in the literature, renal disease prominent in at least two.
Sources: Expert list
Created: 28 Nov 2019, 5:21 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Coenzyme Q10 deficiency, primary, 8, MIM#616733

Publications

Created: 28 Nov 2019, 5:21 a.m.

Panel version: 0.7

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review Amber
Expert list

Phenotypes

Coenzyme Q10 deficiency, primary, 8, MIM#616733

OMIM

601683

Clinvar variants

Variants in COQ7

Penetrance

None

Publications

Panels with this gene