GATA1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Bleeding and platelet disorders

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• COVID-19 research

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Cutaneous photosensitivity with a likely genetic cause

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Cytopenia - NOT Fanconi anaemia

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Cytopenias and congenital anaemias

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Fetal anomalies

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Fetal hydrops

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Haematological malignancies cancer susceptibility

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

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Disease associations (Open Targets)

• thrombocytopenia, X-linked, with or without dyserythropoietic anemia

  0.77

• X-linked dyserythropoetic anemia with abnormal platelets and neutropenia

  0.76

• Diamond-Blackfan anemia

  0.74

• Blackfan-Diamond anemia

  0.72

• hemolytic anemia due to erythrocyte adenosine deaminase overproduction

  0.65

• thrombocytopenia with congenital dyserythropoietic anemia

  0.65

• GATA1-Related X-Linked Cytopenia

  0.65

• beta-thalassemia-X-linked thrombocytopenia syndrome

  0.64

• Thrombocytopenia

  0.61

• transient myeloproliferative syndrome

  0.54

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

Protein function (UniProt)