Renal ciliopathies
Gene: XPNPEP3
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 3:08 p.m. | Last Modified: 30 Jan 2023, 4:06 p.m.
Panel Version: 2.3
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, 5:15 p.m. | Last Modified: 11 Jan 2022, 5:15 p.m.
Panel Version: 1.49
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 11 Jan 2022, 3:37 p.m. | Last Modified: 11 Jan 2022, 3:37 p.m.
Panel Version: 1.49
PMID 20179356: two families with 5 individuals reported. Functional data, including animal models, supportive evidence for involvement in ciliary function.
PMID 32660933: Additional case reported.Created: 10 May 2021, 10:09 a.m. | Last Modified: 10 May 2021, 10:09 a.m.
Panel Version: 1.41
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis-like nephropathy 1, OMIM #613159
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mutations only identified in 2 families. Not offered on GOS ciliopathy panel. Possible DD on G2PCreated: 19 Jan 2017, 3:44 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis-like nephropathy 1 613159
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).
Publications for gene: XPNPEP3 were set to 20179356
Phenotypes for gene: XPNPEP3 were changed from Nephronophthisis; Ciliopathies; Nephronophthisis-like nephropathy 1, 613159 to Nephronophthisis-like nephropathy 1 OMIM:613159; nephronophthisis-like nephropathy 1 MONDO:0013163
gene: XPNPEP3 was added gene: XPNPEP3 was added to Renal ciliopathies. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Orphanet,Expert Review Red,Illumina TruGenome Clinical Sequencing Services 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 Nephronophthisis; Ciliopathies; Nephronophthisis-like nephropathy 1, 613159