KANK2

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

5 panels

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

Level 3: Keratodermas
Level 2: Dermatological disorders
Version 1.35

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


Level 2: Dermatology
Version 4.9
Latest signed off version: v4.0 (30 Apr 2025)

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


Level 2: Dermatology
Version 4.9
Latest signed off version: v4.0 (30 Apr 2025)

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 1.124

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


Level 2: Renal
Version 5.7
Latest signed off version: v5.0 (30 Apr 2025)

Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    • Literature
    Phenotypes
    • Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome
    • Nephrotic syndrome 16 #617783