Cystic kidney disease

Gene: XPNPEP3

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.

Created: 30 Jan 2023, 4:25 p.m. | Last Modified: 30 Jan 2023, 4:25 p.m.

Panel Version: 3.4

Green List (high evidence)

Associated with relevant phenotype in OMIM and as limited Gen2Phen gene. At least three variants were reported in three unrelated cases (PMID: 32660933; 20179356). Two of the variants were terminating (RCV000000069, RCV001554332) and the third was a missense variant (RCV000000068), that seems to activate a cryptic splice site; RT-PCR of lymphoblastoid cells showed that this resulted in the inclusion of intronic bases and a frameshift. Cilia-related function was examined by the suppression of zebrafish xpnpep3, resulting in phenotypes reminiscent of ciliopathy morphants, this effect was rescued by human XPNPEP3 that was devoid of a mitochondrial localization signal (PMID: 20179356).

Created: 11 Jan 2022, 5:56 p.m. | Last Modified: 11 Jan 2022, 5:56 p.m.

Panel Version: 2.31

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review, depending on review of the phenotype.

Created: 11 Jan 2022, 4:18 p.m. | Last Modified: 11 Jan 2022, 4:18 p.m.

Panel Version: 2.31

Red List (low evidence)

Found in 2 families worldwide

Created: 26 Oct 2015, 5:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephronophthisis-like nephropathy 1

Publications

• 20179356