KRT9

keratin 9
OMIM: 607606, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green KRT9 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
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Palmoplantar keratoderma, epidermolytic, 144200
  • Epidermolytic Palmoplantar Keratoderma (EPPK)
  • Palmoplantar Keratoderma, Epidermolytic
  • Diffuse keratoderma
  • Diffuse keratoderma with knuckle pads
  • Diffuse keratoderma with digital mutilation
  • Vörner type palmoplantar keratoderma
Green KRT9 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
  • Diffuse keratoderma
  • Palmoplantar keratoderma, epidermolytic, OMIM:144200
Green KRT9 in Palmoplantar keratodermas


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

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Palmoplantar keratoderma