Cystic kidney diseaseGene: DZIP1L
Comment on list classification: Gene added by expert reviewer and rated green. PMID: 28530676 - homozygous missense variants reported in 3 families (5 probands), and loss of funtion variants in two additional unrelated patients with ARPKD. Parental consanguinity applied to all cases. A mouse mutant (wpy) with widespread embryonic dysmorphologies, had eight homozygous mutations including a nonsense mutation in the region encoding the coiled-coil domains of Dzip1l (c.1123C>T (p.Gln375*). Histological analysis of kidney sections after at least four crosses to CD1 revealed a highly penetrant progressive cystic-kidney phenotype in Dzip1l wpy/wpy mice. Additional functional evidence was reported, suggesting that the ciliary-membrane translocation of the PKD1 amd PKD2 (both green genes on this panel) is compromised in DZIP1L-mutant cells.
Created: 9 Nov 2017, 12:05 p.m.
This is a novel cause of recessive cystic kidney disease that mimics ARPKD
Created: 3 Nov 2017, 9:29 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of pathogenicity
Phenotypes for gene: DZIP1L were changed from ARPKD; Polycystic kidney disease 5 617610 to ARPKD; Polycystic kidney disease 5 617610
Phenotypes for DZIP1L were set to ARPKD; Polycystic kidney disease 5 617610
This gene has been classified as Green List (High Evidence).
Publications for DZIP1L were set to 28530676
DZIP1L was added to Cystic kidney diseasepanel. Sources: Expert Review
DZIP1L was created by jasayer