EGLN1

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green EGLN1 in Mendeliome


Version 1.2374

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 1.29

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

Red EGLN1 in Paraganglioma_phaeochromocytoma


Level 2: Cancer Predisposition
Version 1.1

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review
  • Literature
  • Expert list
Phenotypes
  • Paraganglioma, MONDO:0000448
  • Pheochromocytoma, MONDO:0008233
  • Pheochromocytoma/paraganglioma, susceptibility to, no MIM#
  • Erythrocytosis, familial, 3, MIM#609820