EPOR

erythropoietin receptor
OMIM: 133171, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green EPOR in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • primary familial polycythemia due to EPO receptor mutation MONDO:0007572

Green EPOR 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, 1], MIM# 133100