Likely inborn error of metabolism

Gene: XPNPEP3

Green List (high evidence)

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

Green List (high evidence)

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.

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal