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 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 2.6
Latest signed off version: v2.0 (22 Mar 2023)

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


Version 2.6
Latest signed off version: v2.0 (30 Nov 2022)

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