Tubulointerstitial kidney disease

Gene: DNAJB11

Comment on list classification: Changed rating to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update.

Created: 19 Oct 2020, 1:57 p.m. | Last Modified: 19 Oct 2020, 1:57 p.m.

Panel Version: 1.10

Green List (high evidence)

This gene has been associated with a phenotype that overlaps ADTKD and ADPKD and is therefore appropriate for this panel.

Created: 23 Jan 2020, 4:09 a.m. | Last Modified: 23 Jan 2020, 4:09 a.m.

Panel Version: 1.0

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Tubulointerstitial disease

Publications

• 29706351

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

I don't know

The rating of this gene has been updated following NHS Genomic Medicine Service approval. The reviewers note a patient with likely pathogenic frameshift who had a later presentation of renal cysts on background of interstitial disease. 19 variants associated with DNAJB11 or AD PKD on HGMD. Recent collaborative paper by Huynh et al. (2020) reports a total of 77 patients (27 pedigrees) that have been described in the literature. The majority of these patients present with polycystic kidneys.

Created: 8 Mar 2022, 12:04 p.m. | Last Modified: 8 Mar 2022, 12:04 p.m.

Panel Version: 1.16

Comment on list classification: Changing rating from amber to green. Expert review indicates that there is sufficient phenotype overlap for this gene to be green on the Tubulointerstitial kidney disease panel.

Created: 23 Mar 2020, 12:47 p.m. | Last Modified: 23 Mar 2020, 12:47 p.m.

Panel Version: 1.5

Associated with Polycystic kidney disease 6 with or without polycystic liver disease #618061 (AD) in OMIM.

PMID: 29706351 - Cornec-Le Gall et al 2018 - Initially identified DNAJB11 variants by WES in two families presenting with Autosomal-dominant polycystic kidney disease (ADPKD)-like features. In family 1 a missense variant (p.Pro54Arg) was found in two family members presenting with non-enlarged polycystic kidneys. In family 2 a frameshifting change (c.166_167insTT) was found; they presented with small renal and liver cysts. Five additional multigenerational families carrying DNAJB11 mutations were identified by targeted analysis. From analysis of the phenotype and functional studies from DNAJB11-null cells they conclude that DNAJB11-associated disease is a phenotypic hybrid of ADPKD and ADTKD, characterized by normal-sized cystic kidneys and progressive interstitial fibrosis resulting in late-onset ESRD.

PMID: 29777155 - Allison 2018 - research highlight about the Cornec-Le Gall et al 2018 paper.

Created: 23 Mar 2020, 12:46 p.m. | Last Modified: 23 Mar 2020, 12:46 p.m.

Panel Version: 1.4

This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group.Gene Symbol submitted:DNAJB11;Suggested initial gene rating: Amber;Evidence for inclusion: none provided;Evidence for exclusion:Suggested phenocopy;Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided

Created: 2 Feb 2019, 12:48 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Polycystic kidney disease 6 with or without polycystic liver disease MIM 618061