Unexplained young onset end-stage renal disease
Gene: XPNPEP3
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 31 Jan 2023, 12:54 p.m. | Last Modified: 31 Jan 2023, 12:54 p.m.
Panel Version: 2.6
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, 6:02 p.m. | Last Modified: 11 Jan 2022, 6:02 p.m.
Panel Version: 1.27
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 11 Jan 2022, 4:22 p.m. | Last Modified: 11 Jan 2022, 4:22 p.m.
Panel Version: 1.27
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of RedCreated: 9 Apr 2019, 11:17 a.m.
Found in 2 families worldwideCreated: 26 Oct 2015, 5:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis-like nephropathy 1
Publications
Tag Q1_22_rating was removed from gene: XPNPEP3.
Source Expert Review Green was added to XPNPEP3. Source NHS GMS 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).
Mode of inheritance for gene: XPNPEP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XPNPEP3 were changed from Ciliopathy genes associated with cystic kidney disease to Nephronophthisis-like nephropathy 1 OMIM:613159; nephronophthisis-like nephropathy 1 MONDO:0013163
Publications for gene: XPNPEP3 were set to
gene: XPNPEP3 was added gene: XPNPEP3 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red Mode of inheritance for gene: XPNPEP3 was set to Unknown Phenotypes for gene: XPNPEP3 were set to Ciliopathy genes associated with cystic kidney disease