ETV6

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

• Haematological malignancies cancer susceptibility

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Haematological malignancies for rare disease

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Inherited bleeding disorders

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Inherited predisposition to acute myeloid leukaemia (AML)

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Inherited susceptibility to acute lymphoblastoid leukaemia (ALL)

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

• thrombocytopenia 5

  0.79

• Thrombocytopenia

  0.64

• acute myeloid leukemia

  0.63

• cancer

  0.60

• hereditary disease

  0.55

• acute lymphoblastic leukemia

  0.54

• Abnormality of the skeletal system

  0.46

• hematopoietic and lymphoid system neoplasm

  0.45

• Abnormal bleeding

  0.40

• myeloproliferative neoplasm

  0.39

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

Protein function (UniProt)