DNAJB11

DnaJ heat shock protein family (Hsp40) member B11
OMIM: 611341, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green DNAJB11 in Ductal plate malformation


Version 1.16

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Polycystic kidney disease 6 with or without polycystic liver disease (618061)

Green DNAJB11 in Polycystic liver disease interim


Version 1.23
Latest signed off version: v1.4 (4 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • NHS GMS
Phenotypes
  • Polycystic kidney disease 6 with or without polycystic liver disease, OMIM:618061

Amber DNAJB11 in Tubulointerstitial kidney disease


Version 1.11
Latest signed off version: v1.3 (4 Mar 2020)

Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review 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

    Green DNAJB11 in Cystic kidney disease

    Level 3: Structural renal and urinary tract disease
    Level 2: Renal and urinary tract disorders
    Version 2.26
    Latest signed off version: v2.2 (19 Feb 2020)

    Component of the following Super Panels:

  • Cystic renal disease
  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • cystic kidney disease
    • end stage renal failure
    • non-enlarged kidney
    • Polycystic kidney disease
    • Tubulointerstitial kidney disease

    Green DNAJB11 in Unexplained paediatric onset end-stage renal disease


    Version 1.18
    Latest signed off version: v1.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Other
    • Expert Review Green
    • Expert Review Green
    • Expert Review Green
    • Other
    Phenotypes
    • Polycystic kidney disease
    • Tubulointerstitial kidney disease
    • cystic kidney disease
    • non-enlarged kidney
    • end stage renal failure

    Amber DNAJB11 in Fetal anomalies


    Version 1.649
    Latest signed off version: v1.92 (21 Aug 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Polycystic kidney disease 6 with or without polycystic liver disease, 618061
    Tags
    • for-review

    Green DNAJB11 in Severe Paediatric Disorders


    Version 1.77

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Polycystic kidney disease 6 with or without polycystic liver disease, 618061