KRT17

keratin 17
OMIM: 148069, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red KRT17 in Familial hidradenitis suppurativa

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders
Version 1.5

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Pachyonychia congenita 2, OMIM:167210
  • Pachyonychia congenita with hidradenitis suppurativa
Green KRT17 in Palmoplantar keratoderma and erythrokeratodermas

Level 3: Keratodermas
Level 2: Dermatological disorders
Version 1.35

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Eligibility statement prior genetic testing
Phenotypes
  • Pachyonychia congenita 2, OMIM:167210
  • Steatocystoma multiplex, OMIM:184500
Green KRT17 in Ichthyosis and erythrokeratoderma


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

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Steatocystoma multiplex, OMIM:184500
  • Pachyonychia congenita 2, OMIM:167210
No list KRT17 in Multiple monogenic benign skin tumours


Level 2: Dermatology
Version 2.5
Latest signed off version: v2.0 (30 Nov 2022)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Steatocystoma multiplex
  • Pachyonychia congenita
Tags
  • curated_removed