KRT6A

keratin 6A
OMIM: 148041, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green KRT6A in Palmoplantar keratoderma and erythrokeratodermas

Level 3: Keratodermas
Level 2: Dermatological disorders
Version 1.31

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Eligibility statement prior genetic testing
Phenotypes
  • Pachyonychia congenital
  • Pachyonychia Congenita, Type 1
  • Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200
Green KRT6A in Ichthyosis and erythrokeratoderma


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

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Pachyonychia congenita 3, OMIM:615726
Green KRT6A in Severe Paediatric Disorders


Version 1.184

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Pachyonychia congenita 3, 615726