Tubulointerstitial kidney disease
Gene: XPNPEP3
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
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 providedCreated: 2 Feb 2019, 12:48 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronopthisis-like nephropathy 1 MIM 613159
Publications
Tag Q1_22_rating was removed from gene: XPNPEP3.
Source Expert Review Green was added to XPNPEP3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q1_22_rating tag was added to gene: XPNPEP3.
Gene: xpnpep3 has been classified as Amber List (Moderate Evidence).
Publications for gene: XPNPEP3 were set to 20179356
Phenotypes for gene: XPNPEP3 were changed from Nephronopthisis-like nephropathy 1 MIM 613159 to Nephronophthisis-like nephropathy 1 OMIM:613159; nephronophthisis-like nephropathy 1 MONDO:0013163
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