PanelApp (stage)
  1. Genes and Genomic Entities
  2. DNAJB11

DNAJB11

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

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green DNAJB11 in Mendeliome


Version 1.1891

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061
  • Ivermark II syndrome.

Green DNAJB11 in Renal Macrocystic Disease


Level 2: Renal and urinary tract disorders
Version 0.69

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Cystic Disease_SuperPanel

    		•  review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061
    • Ivermark II syndrome.

    Green DNAJB11 in Renal Tubulointerstitial Disease


    Level 2: Renal and urinary tract disorders
    Version 1.3

    Component of the following Super Panels:

  • Kidneyome_SuperPanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061

    Green DNAJB11 in Polycystic liver disease


    Level 2: Gastroenterological disorders
    Version 1.8

    Component of the following Super Panels:

  • Liverome Superpanel

    		•  review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Polycystic kidney disease 6 with or without polycystic liver disease (618061)
    • Ivermark II syndrome

    Green DNAJB11 in Fetal anomalies


    Version 1.255

    		review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Polycystic kidney disease 6 with or without polycystic liver disease, 618061