Likely inborn error of metabolism - targeted testing not possible
Gene: XPNPEP3
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 10:24 a.m. | Last Modified: 1 Feb 2023, 10:24 a.m.
Panel Version: 3.6
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, 5:59 p.m. | Last Modified: 11 Jan 2022, 5:59 p.m.
Panel Version: 2.218
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 11 Jan 2022, 4:21 p.m. | Last Modified: 11 Jan 2022, 4:21 p.m.
Panel Version: 2.218
Comment on list classification: Mutations in this gene were reported in 2 consanguineous families from different ethnicities (Northern Finland and Turkey) with nephronophthisis-like nephropathy. This is a possible DD gene.Created: 26 Feb 2016, 11:58 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Tag Q1_22_rating was removed from gene: XPNPEP3.
Source NHS GMS was added to 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).
Phenotypes for gene: XPNPEP3 were changed from nephronophthisis-like nephropathy to Nephronophthisis-like nephropathy 1 OMIM:613159; nephronophthisis-like nephropathy 1 MONDO:0013163
Publications for gene: XPNPEP3 were set to PMID: 20179356
Sarah Leigh: Associated with phenotype in O
gene: XPNPEP3 was added gene: XPNPEP3 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: XPNPEP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XPNPEP3 were set to PMID: 20179356 Phenotypes for gene: XPNPEP3 were set to nephronophthisis-like nephropathy