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Proteinuric renal disease

Gene: COQ7

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

1 review

Eleanor Williams (Genomics England Curator)

Red List (low evidence)

This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, February 2019 on behalf of the GMS Renal Specialist Test Group. Gene Symbol submitted: COQ7; Suggested initial gene rating: red; Evidence for inclusion: PMID: 26084283; Other comments: One patient with syndromic presentation and homozygous COQ7 variant - MAF = 0.002%
Created: 4 Feb 2019, 10:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Coenzyme Q10 deficiency, primary, 8 #616733

Publications

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

Created: 4 Feb 2019, 10:41 a.m.

Panel version: 1.16

History Filter Activity

24 Jun 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: COQ7 were changed from to ?Coenzyme Q10 deficiency, primary, 8 #616733

24 Jun 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: COQ7 were set to

4 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: COQ7 was added gene: COQ7 was added to Proteinuric renal disease. Sources: NHS GMS Mode of inheritance for gene: COQ7 was set to