THPO

thrombopoietin
OMIM: 600044, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green THPO in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 1.52

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
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 1.114

Component of the following Super Panels:

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

    Green THPO in Mendeliome


    Version 1.2374

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Thrombocythemia 1, MIM# 187950
    • Thrombocytopenia 9, MIM# 620478

    Red THPO in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.305

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Expert Review Red
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • NHS GMS
    • Expert list
    • Emory Genetics Laboratory
    • Victorian Clinical Genetics Services
    Phenotypes
    • Thrombocythemia 1 187950 (rare presentation with congenital limb defects)

    Green THPO in IBMDx study


    Version 0.35

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

    Green THPO in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

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