EGLN1:Ensemblv90

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green EGLN1 in Mendeliome


Version 1.3802

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Erythrocytosis, familial, 3, MIM# 609820

Green EGLN1 in Red cell disorders


Level 2: Haematological disorders
Version 1.39

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Erythrocytosis, familial, 3, MIM# 609820

Green EGLN1 in Red cell disorders


Level 2: Haematological disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Erythrocytosis, familial, 3, MIM# 609820