THPO

thrombopoietin
OMIM: 600044, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green THPO in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 2.0

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Thrombocythemia 1, MIM# 187950
  • Thrombocytopenia 9, MIM# 620478
  • Amegakaryocytic thrombocytopenia, congenital, 2, MIM# 620481

Green THPO in Bone Marrow Failure


Level 2: Haematological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Amegakaryocytic thrombocytopenia, congenital, 2, MIM# 620481

Green THPO in IBMDx study


Version 1.0

1 review Unknown
Sources
  • Expert list
  • Expert Review Green
  • IBMDx Study
  • Expert Review Green
Phenotypes
  • Thrombocytopenia progressing to trilineage bone marrow failure

Green THPO in Transplant Co-Morbidity


Level 2: Screening
Version 1.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Thrombocythemia 1, MIM# 187950