KANK2

KN motif and ankyrin repeat domains 2
OMIM: 614610, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red KANK2 in Palmoplantar keratoderma and erythrokeratodermas

Level 3: Keratodermas
Level 2: Dermatological disorders
Version 1.31

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • PPKWH
  • Palmoplantar keratoderma and woolly hair, 616099
Red KANK2 in Ichthyosis and erythrokeratoderma


Version 3.28
Latest signed off version: v3.2 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • PPKWH
  • Palmoplantar keratoderma and woolly hair, 616099
Green KANK2 in Palmoplantar keratodermas


Version 3.25
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Palmoplantar keratoderma, woolly hair
Red KANK2 in Unexplained kidney failure in young people

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.119

Component of the following Super Panels:

  • Renal superpanel - broad
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome
    Red KANK2 in Unexplained young onset end-stage renal disease


    Version 3.41
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome
    Amber KANK2 in Proteinuric renal disease

    Level 3: Syndromes with prominent renal abnormalities
    Level 2: Renal and urinary tract disorders
    Version 4.12
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    • Literature
    Phenotypes
    • Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome
    • Nephrotic syndrome 16 #617783