Tubulointerstitial kidney disease

Gene: XPNPEP3

Amber List (moderate evidence)

XPNPEP3 (X-prolyl aminopeptidase 3)
EnsemblGeneIds (GRCh38): ENSG00000196236
EnsemblGeneIds (GRCh37): ENSG00000196236
OMIM: 613553, Gene2Phenotype
XPNPEP3 is in 15 panels

1 review

Eleanor Williams (Genomics England Curator)

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

History Filter Activity

2 Feb 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: XPNPEP3 was added gene: XPNPEP3 was added to Tubulointerstitial kidney disease. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: XPNPEP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XPNPEP3 were set to 20179356 Phenotypes for gene: XPNPEP3 were set to Nephronopthisis-like nephropathy 1 MIM 613159