Unexplained young onset end-stage renal disease
Gene: DZIP1L
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of GreenCreated: 9 Apr 2019, 11:17 a.m.
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 ARPKDCreated: 3 Nov 2017, 9:29 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ARPKD
Publications
Mode of pathogenicity
Other
gene: DZIP1L was added gene: DZIP1L was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green Mode of inheritance for gene: DZIP1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DZIP1L were set to 28530676 Phenotypes for gene: DZIP1L were set to ARPKD; Polycystic kidney disease 5 617610 Mode of pathogenicity for gene: DZIP1L was set to Other - please provide details in the comments