Tubulointerstitial kidney diseaseGene: XPNPEP3
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
Nephronopthisis-like nephropathy 1 MIM 613159
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