COL14A1

collagen type XIV alpha 1 chain
OMIM: 120324, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red COL14A1 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Punctate palmoplantar keratoderma type 1B

Red COL14A1 in Palmoplantar Keratoderma and Erythrokeratoderma


Level 2: Dermatological disorders
Version 0.132

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Punctate palmoplantar keratoderma type 1B, MONDO:0017675, COL14A1-related