Cystic kidney disease

Gene: DZIP1L

Green List (high evidence)

DZIP1L (DAZ interacting zinc finger protein 1 like)
EnsemblGeneIds (GRCh38): ENSG00000158163
EnsemblGeneIds (GRCh37): ENSG00000158163
OMIM: 617570, Gene2Phenotype
DZIP1L is in 5 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

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.

John Sayer (Newcastle University)

Green List (high evidence)

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

Phenotypes
ARPKD

Publications

  • Lu H, Galeano MCR, Ott E, Kaeslin G, Kausalya PJ, Kramer C, Ortiz-Brüchle N, Hilger N, Metzis V, Hiersche M, Tay SY, Tunningley R, Vij S, Courtney AD, Whittle B, Wühl E, Vester U, Hartleben B, Neuber S, Frank V, Little MH, Epting D, Papathanasiou P, Perkins AC, Wright GD, Hunziker W, Gee HY, Otto EA, Zerres K, Hildebrandt F, Roy S, Wicking C, Bergmann C. Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease. Nat Genet. 2017 Jul
  • 49(7):1025-1034. doi: 10.1038/ng.3871. Epub 2017 May 22. PubMed PMID: 28530676.

Mode of pathogenicity
Other

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • ARPKD
  • Polycystic kidney disease 5 617610
OMIM
617570
Clinvar variants
Variants in DZIP1L
Penetrance
Complete
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: DZIP1L were changed from ARPKD; Polycystic kidney disease 5 617610 to ARPKD; Polycystic kidney disease 5 617610

9 Nov 2017, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for DZIP1L were set to ARPKD; Polycystic kidney disease 5 617610

9 Nov 2017, Gel status: 3

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Nov 2017, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for DZIP1L were set to 28530676

3 Nov 2017, Gel status: 0

Added New Source

John Sayer (Newcastle University)

DZIP1L was added to Cystic kidney diseasepanel. Sources: Expert Review

3 Nov 2017, Gel status: 0

Created

John Sayer (Newcastle University)

DZIP1L was created by jasayer