Cystic kidney disease

Gene: DNAJB11

Green List (high evidence)

Panel testing has identified loss-of-function truncating mutation in a patient with atypical ADPKD

Created: 25 Jan 2019, 4:39 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Polycystic kidney disease; Tubulointerstitial kidney disease

Publications

• PMID: 29706351

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

Comment on list classification: Promoted to green after confirmation with the internal Genomics England clinical team that this has sufficient evidence.

Created: 13 Aug 2018, 3:41 p.m.

Comment on list classification: This gene was added by a Reviewer due to PMID: 29706351. 7 families reported, with missense or loss-of-function variants identified in this gene in 23 affected patients with cystic kidney disease. Pedigrees show the variants segregate with the disease and was not present in unaffected individuals, though genotyping data and phenotype data were not available for all individuals in the families. The two missense variants were predicted as pathogenic and not found in Gnomad.

Created: 1 Jun 2018, 1:02 p.m.

Green List (high evidence)

recent publication provides good evidence for this gene

(Cornec-Le Gall E, Olson RJ, Besse W, Heyer CM, Gainullin VG, Smith JM,
Audrézet MP, Hopp K, Porath B, Shi B, Baheti S, Senum SR, Arroyo J, Madsen CD,
Férec C, Joly D, Jouret F, Fikri-Benbrahim O, Charasse C, Coulibaly JM, Yu AS,
Khalili K, Pei Y, Somlo S, Le Meur Y, Torres VE; Genkyst Study Group; HALT
Progression of Polycystic Kidney Disease Group; Consortium for Radiologic Imaging
Studies of Polycystic Kidney Disease, Harris PC. Monoallelic Mutations to DNAJB11
Cause Atypical Autosomal-Dominant Polycystic Kidney Disease. Am J Hum Genet. 2018
May 3;102(5):832-844. doi: 10.1016/j.ajhg.2018.03.013. Epub 2018 Apr 26. PubMed
PMID: 29706351.

Created: 26 May 2018, 11:49 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
cystic kidney disease; end stage renal failure; non-enlarged kidney

Publications

• 29706351