1. Genes and Genomic Entities
  2. KRT16

KRT16

keratin 16
OMIM: 148067, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green KRT16 in Palmoplantar keratoderma and erythrokeratodermas

Level 3: Keratodermas
Level 2: Dermatological disorders
Version 1.35

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Focal keratoderma
  • Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200
  • Palmoplantar keratoderma, nonepidermolytic, focal, 613000
  • Pachyonychia Congenita, Type 1
  • focal non-epidermolytic palmoplantar keratoderma (NEPPK)
  • FNEPPK1
  • striate keratoderma (palmar)
  • focal keratoderma (palmar)
  • Pachyonychia congenita (PC)
Green KRT16 in Ichthyosis and erythrokeratoderma


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

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Pachyonychia congenita 1, OMIM:167200
  • Palmoplantar keratoderma, nonepidermolytic, focal, OMIM:613000