EGLN1

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 1.44
Latest signed off version: v1.19 (30 Sep 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • Erythrocytosis, familial, 3, OMIM:609820