Cystic kidney disease
Gene: XPNPEP3
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 4:25 p.m. | Last Modified: 30 Jan 2023, 4:25 p.m.
Panel Version: 3.4
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, 5:56 p.m. | Last Modified: 11 Jan 2022, 5:56 p.m.
Panel Version: 2.31
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review, depending on review of the phenotype.Created: 11 Jan 2022, 4:18 p.m. | Last Modified: 11 Jan 2022, 4:18 p.m.
Panel Version: 2.31
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 Q2_21_expert_review was removed from gene: XPNPEP3. Tag Q1_22_rating was removed from gene: XPNPEP3. Tag Q1_22_phenotype 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 Q2_21_expert_review tag was added to gene: XPNPEP3.
Tag Q1_22_rating tag was added to gene: XPNPEP3. Tag Q1_22_phenotype 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 to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XPNPEP3 were set to
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
This gene has been classified as Red List (Low Evidence).
XPNPEP3 was added to Cystic kidney diseasepanel. Sources: Expert