Renal Macrocystic Disease
Gene: DNAJB11

DNAJB11 (DnaJ heat shock protein family (Hsp40) member B11)
EnsemblGeneIds (GRCh38): ENSG00000090520
EnsemblGeneIds (GRCh37): ENSG00000090520
OMIM: 611341, Gene2Phenotype
DNAJB11 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Single family reported with bi-allelic variant and severe, fetal onset renal cystic disease, dilation and proliferation of pancreatic duct cells, and liver ductal plate malformation, an association known as Ivemark II syndrome.
Created: 6 Dec 2020, 8:53 p.m. | Last Modified: 6 Dec 2020, 8:54 p.m.

Panel Version: 0.37

Seven families described with phenotypes overlapping ADTKD and ADPKD and mono-allelic variants in this gene.
Sources: Expert list
Created: 20 Nov 2019, 4:48 a.m. | Last Modified: 6 Dec 2020, 8:53 p.m.

Panel Version: 0.37

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061; Ivermark II syndrome.

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 20 Nov 2019, 4:48 a.m.
Last Modified: 6 Dec 2020, 8:54 p.m.
Panel version: 0.37

Details

Mode of Inheritance

BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list

Phenotypes

Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061
Ivermark II syndrome.

OMIM

611341

Clinvar variants

Variants in DNAJB11

Penetrance

None

Publications

Panels with this gene