EPOR

erythropoietin receptor
OMIM: 133171, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Green EPOR in Hereditary Erythrocytosis

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.35
Latest signed off version: v1.19 (30 Sep 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Other
Phenotypes
  • [Erythrocytosis, familial, 1], OMIM:133100