Cystic kidney disease
Gene: DZIP1LReviewer Yu Leng Phua adds 3 additional cases from PMID: 35211789 Hertz et al 2022 supporting the existing green rating for this gene.Created: 29 May 2023, 10:07 p.m. | Last Modified: 29 May 2023, 10:07 p.m.
Panel Version: 4.6
Four children from three consanguineous families presenting with polycystic kidney disease;
Variants: c.193 T > C; p.(Cys65Arg), and c.216C > G; p.(Cys72Trp);
Functional analyses of the c.216C > G; p.(Cys72Trp) variant indicated mislocalization of mutant DZIP1L;
NOTE: Lack of liver phenotype in these patientsCreated: 11 Mar 2022, 1:20 p.m. | Last Modified: 11 Mar 2022, 1:20 p.m.
Panel Version: 2.35
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
# 617610 POLYCYSTIC KIDNEY DISEASE 5; PKD5
Publications
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
Phenotypes for gene: DZIP1L were changed from ARPKD; Polycystic kidney disease 5 617610 to Polycystic kidney disease 5, OMIM:617610; polycystic kidney disease 5, MONDO_0033281
Publications for gene: DZIP1L were set to 28530676
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