EPAS1

endothelial PAS domain protein 1
OMIM: 603349, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green EPAS1 in Hereditary Erythrocytosis


Level 2: Haematology
Version 3.1
Latest signed off version: v3.0 (6 May 2026)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • Erythrocytosis, familial, 4, OMIM:611783
Amber EPAS1 in Inherited phaeochromocytoma and paraganglioma excluding NF1


Level 2: Endocrinology
Version 4.2
Latest signed off version: v4.0 (6 May 2026)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Erythrocytosis, familial, 4, OMIM:611783