KRT2

keratin 2
OMIM: 600194, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green KRT2 in Epidermolysis bullosa


Level 2: Dermatological disorders
Version 1.15

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Superficial epidermolytic ichthyosis (SEI) (MIM#146800)

Green KRT2 in Ichthyosis


Level 2: Dermatological disorders
Version 1.11

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Superficial epidermolytic ichthyosis (SEI) , MIM#146800

Green KRT2 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Superficial epidermolytic ichthyosis (SEI) (MIM#146800)

Red KRT2 in Palmoplantar Keratoderma and Erythrokeratoderma


Level 2: Dermatological disorders
Version 0.132

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Superficial epidermolytic ichthyosis (SEI) (MIM#146800)