KRT83

keratin 83
OMIM: 602765, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber KRT83 in Mendeliome


Version 1.1891

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 5, MIM# 617756
  • Monilethrix , MIM#158000

Red KRT83 in Palmoplantar Keratoderma and Erythrokeratoderma


Level 2: Dermatological disorders
Version 0.132

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 5, MIM# 617756

Amber KRT83 in Hair disorders


Level 2: Dermatological disorders
Version 0.71

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Monilethrix, 158000