Renal ciliopathiesGene: XPNPEP3
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
Nephronophthisis-like nephropathy 1 613159
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