EPAS1

endothelial PAS domain protein 1
OMIM: 603349, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green EPAS1 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Familial erythrocytosis (MIM#611783), AD

Green EPAS1 in Red cell disorders


Level 2: Haematological disorders
Version 1.24

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Erythrocytosis, familial, 4, MIM# 611783