AQP5

aquaporin 5
OMIM: 600442, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green AQP5 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Palmoplantar keratoderma, Bothnian type MIM#600231

Green AQP5 in Palmoplantar Keratoderma and Erythrokeratoderma


Level 2: Dermatological disorders
Version 0.132

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green