Tubulointerstitial kidney disease

Gene: DNAJB11

Amber List (moderate evidence)

DNAJB11 (DnaJ heat shock protein family (Hsp40) member B11)
EnsemblGeneIds (GRCh38): ENSG00000090520
EnsemblGeneIds (GRCh37): ENSG00000090520
OMIM: 611341, Gene2Phenotype
DNAJB11 is in 6 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

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

Zornitza Stark (Australian Genomics)

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

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

Eleanor Williams (Genomics England Curator)

I don't know

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Polycystic kidney disease 6 with or without polycystic liver disease MIM 618061
  • Tubulointerstitial disease
Tags
for-review
OMIM
611341
Clinvar variants
Variants in DNAJB11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: dnajb11 has been classified as Amber List (Moderate Evidence).

24 Jun 2020, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag for-review tag was added to gene: DNAJB11.

23 Mar 2020, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: DNAJB11 were changed from Polycystic kidney disease 6 with or without polycystic liver disease MIM 618061 to Polycystic kidney disease 6 with or without polycystic liver disease MIM 618061; Tubulointerstitial disease

23 Mar 2020, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: DNAJB11 were set to

23 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: dnajb11 has been classified as Green List (High Evidence).

2 Feb 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: DNAJB11 was added gene: DNAJB11 was added to Tubulointerstitial kidney disease. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: DNAJB11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DNAJB11 were set to Polycystic kidney disease 6 with or without polycystic liver disease MIM 618061