TSR2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Haematological malignancies for rare disease

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

• Cytopenia - NOT Fanconi anaemia

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

• Rare anaemia

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

• Clefting

• Cytopenias and congenital anaemias

  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)

Disease associations (Open Targets)

• Blackfan-Diamond anemia

  0.60

• Aarskog-Scott syndrome, X-linked

  0.49

• Diamond-Blackfan anemia

  0.46

• prostate carcinoma

  0.28

• hereditary disease

  0.18

• spinal muscular atrophy

  0.11

• Atrophy/Degeneration affecting the central nervous system

  0.06

• gastric cancer

  0.05

• neoplasm

  0.03

• Hypertension

  0.02

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

Protein function (UniProt)