Cystic kidney disease
Gene: DNAJB11
Panel testing has identified loss-of-function truncating mutation in a patient with atypical ADPKDCreated: 25 Jan 2019, 4:39 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Polycystic kidney disease; Tubulointerstitial kidney disease
Publications
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.
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
Phenotypes for gene: DNAJB11 were changed from cystic kidney disease; end stage renal failure; non-enlarged kidney to cystic kidney disease; end stage renal failure; non-enlarged kidney; Polycystic kidney disease; Tubulointerstitial kidney disease
Gene: dnajb11 has been classified as Green List (High Evidence).
Gene: dnajb11 has been classified as Amber List (Moderate Evidence).
DNAJB11 was added to Cystic kidney disease panel. Sources: Other
DNAJB11 was created by John Sayer