Tubulointerstitial 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, 3:44 p.m. | Last Modified: 30 Jan 2023, 3:44 p.m.

Panel Version: 2.4

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, 5:53 p.m. | Last Modified: 11 Jan 2022, 5:53 p.m.

Panel Version: 1.14

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

Created: 11 Jan 2022, 4:02 p.m. | Last Modified: 11 Jan 2022, 4:02 p.m.

Panel Version: 1.14

I don't know

This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group.Gene Symbol submitted:XPNPEP3;Suggested initial gene rating: Amber;Evidence for inclusion: 2 families in paper;Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided

Created: 2 Feb 2019, 12:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephronopthisis-like nephropathy 1 MIM 613159

Publications

• O'Toole et al J. Clin. Invest. 120: 791-802, 2010. PubMed: 20179356