JAK2

Janus kinase 2
OMIM: 147796, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green JAK2 in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Thrombocythaemia 3, MIM# 614521
Tags
  • somatic

Green JAK2 in Mendeliome


Version 2.50

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Thrombocythaemia 3, MIM# 614521
  • Familial polycythemia MONDO:0001115, JAK2-related
Tags
  • somatic

Green JAK2 in Red cell disorders


Level 2: Haematological disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Erythrocytosis, somatic, 133100
  • Familial polycythemia MONDO:0001115, JAK2-related
Tags
  • somatic