EPAS1

endothelial PAS domain protein 1
OMIM: 603349, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green EPAS1 in Mendeliome


Version 1.4851

3 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Familial erythrocytosis (MIM#611783)
  • Hereditary anaemia, MONDO:0016624, EPAS1-related

Green EPAS1 in Red cell disorders


Level 2: Haematological disorders
Version 1.57

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Erythrocytosis, familial, 4, MIM# 611783
  • Hereditary anaemia, MONDO:0016624, EPAS1-related

Red EPAS1 in Paraganglioma_phaeochromocytoma


Level 2: Cancer Predisposition
Version 1.2

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
  • Expert Review
  • Expert list
Phenotypes
  • Paraganglioma, MONDO:0000448
  • Pheochromocytoma, MONDO:0008233
  • Pheochromocytoma/paraganglioma, susceptibility to, no MIM#
  • Erythrocytosis, familial, 4, MIM#611783