PanelApp
  1. Genes and Genomic Entities
  2. CAST

CAST

calpastatin
OMIM: 114090, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green CAST in Epidermolysis bullosa


Level 2: Dermatological disorders
Version 1.22

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (MIM# 616295)

Green CAST in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (MIM#616295)

Green CAST in Palmoplantar Keratoderma and Erythrokeratoderma


Level 2: Dermatological disorders
Version 0.136

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (MIM#616295)