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 1.44
Latest signed off version: v1.19 (30 Sep 2020)

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 1.23
Latest signed off version: v1.4 (11 Nov 2020)

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