Tubulointerstitial kidney disease
Gene: DNAJB11Comment 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
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
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 providedCreated: 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
Phenotypes for gene: DNAJB11 were changed from Polycystic kidney disease 6 with or without polycystic liver disease MIM 618061; Tubulointerstitial disease to Polycystic kidney disease 6 with or without polycystic liver disease, OMIM:618061; Tubulointerstitial disease
Tag for-review was removed from gene: DNAJB11.
Source Expert Review Green was added to DNAJB11. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: dnajb11 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: DNAJB11.
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
Publications for gene: DNAJB11 were set to
Gene: dnajb11 has been classified as Green List (High Evidence).
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