Renal ciliopathies

Gene: XPNPEP3

Green List (high evidence)

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

Green List (high evidence)

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

• 32660933
• 20179356

Variants in this GENE are reported as part of current diagnostic practice

Red List (low evidence)

Mutations only identified in 2 families. Not offered on GOS ciliopathy panel. Possible DD on G2P

Created: 19 Jan 2017, 3:44 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephronophthisis-like nephropathy 1 613159

Publications

• 20179356