Proteinuric renal disease

Gene: COQ8B

Green List (high evidence)

Comment on list classification: >3 families with plausible disease causing variants in COQ8B.

Created: 27 Mar 2019, 10:54 p.m.

Associated with Nephrotic syndrome, type 9 615573 in OMIM. Previous symbol: ADCK4.

PMID: 24270420 - Ashraf et al 2013 - using a combination of homozygosity mapping and whole human exome resequencing, identified variants in the aarF domain containing kinase 4 (ADCK4) gene in 15 individuals with SRNS from 8 unrelated families. Several different variants. Functional data supports the role of this gene's involvement in nephrotic syndrome-associated phenotypes. In human podocytes, ADCK4 interacted with members of the CoQ10 biosynthesis pathway, including COQ6, which has been linked with SRNS and COQ7.

Created: 27 Mar 2019, 10:53 p.m.

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: COQ8B; Suggested initial gene rating: green; Evidence for inclusion: PMID: 24270420; Other comments: Multiple patients in PMID 24270420 from 3 unrelated families with SRNS and homozygous/compound het COQ8B variants

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

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephrotic syndrome, type 9 #615573

Publications

• PMID: 24270420