EPO

erythropoietin
OMIM: 133170, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green EPO in Hereditary Erythrocytosis

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 2.6
Latest signed off version: v2.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Erythrocytosis, familial, 5, OMIM:617907
Red EPO in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • DBA
  • Diamond-Blackfan anemia-like (AR), 617911
  • Erythrocytosis, familial 5 (AD), 617907