egl-9 family hypoxia inducible factor 1
OMIM: 606425, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green EGLN1 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, NOT imprinted
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Other
  • Erythrocytosis, familial, 3, OMIM:609820