Ductal plate malformation
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

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Promoted from red to green. PMID: 29706351 showed 7 unrelated families with polycystic kidney disease with variants in DNAJB11 and 5 of these families have a polycystic liver phenotype.
Created: 11 Jan 2019, 12:36 p.m.

Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: DNAJB11; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 8 Jan 2019, 9:38 a.m.

Created: 8 Jan 2019, 9:38 a.m.

Panel version: 1.3

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
NHS GMS

Phenotypes

Polycystic kidney disease 6 with or without polycystic liver disease (618061)

OMIM

611341

Clinvar variants

Variants in DNAJB11

Penetrance

None

Publications

29706351

Panels with this gene