Rare multisystem ciliopathy disorders
Gene: XPNPEP3
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).
Feedback from Helen Brittain (GEL Clinical Fellow): this gene is suitable for this panel.Created: 17 Feb 2022, 1:27 p.m. | Last Modified: 17 Feb 2022, 1:27 p.m.
Panel Version: 1.157
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review, however, reviewers on the Primary ciliary disorders (https://panelapp.genomicsengland.co.uk/panels/178/gene/XPNPEP3/#!review) question the relevance of the phenotype associated with variants in XPNPEP3. Helen Brittain (GEL Clinical Fellow) has been consulted regarding this issue.Created: 11 Jan 2022, 5:23 p.m. | Last Modified: 11 Jan 2022, 5:23 p.m.
Panel Version: 1.156
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
Gene: xpnpep3 has been classified as Green List (High Evidence).
Gene: xpnpep3 has been classified as Red List (Low Evidence).
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-like nephropathy 1, 613159; Ciliopathies; Nephronophthisis to Nephronophthisis-like nephropathy 1 OMIM:613159; nephronophthisis-like nephropathy 1 MONDO:0013163
Promoted to version 1 by Alice Gardham on 26th January 2017
This gene has been classified as Red List (Low Evidence).
Publications for XPNPEP3 were set to 20179356
Mode of inheritance for XPNPEP3 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Red List (Low Evidence).
XPNPEP3 was added to Rare multisystem ciliopathy disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services
XPNPEP3 was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet
XPNPEP3 was added to Rare multisystem ciliopathy disorderspanel. Source: Emory Genetics Laboratory
XPNPEP3 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
XPNPEP3 was created by ellenmcdonagh