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GenoLensGenoLens

THPO

Chr 3q27.1

thrombopoietin

Aliases:
TPO, MPLLG
MANE:
ENST00000647395.1

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Bleeding and platelet disorders

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Cytopenia - NOT Fanconi anaemia

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Inherited bleeding disorders

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Thrombocythaemia

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Limb disorders

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Skeletal dysplasia

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • VACTERL-like phenotypes

Disease associations (Open Targets)

  • thrombocythemia 1

    0.68
  • amegakaryocytic thrombocytopenia, congenital, 2

    0.53
  • thrombocytopenia 9

    0.51
  • Thrombocytopenia

    0.50
  • congenital amegakaryocytic thrombocytopenia 1

    0.47
  • congenital amegakaryocytic thrombocytopenia

    0.47
  • thrombocytopenia 4

    0.41
  • hereditary disease

    0.41
  • familial thrombocytosis

    0.38
  • essential thrombocythemia

    0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Thrombopoietin

Lineage-specific cytokine affecting the proliferation and maturation of megakaryocytes from their committed progenitor cells. It acts at a late stage of megakaryocyte development. It may be the major physiological regulator of circulating platelets

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.