SBDS

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• COVID-19 research

  BIALLELIC, autosomal or pseudoautosomal

• Cytopenia - NOT Fanconi anaemia

  BIALLELIC, autosomal or pseudoautosomal

• Cytopenias and congenital anaemias

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Haematological malignancies cancer susceptibility

  BIALLELIC, autosomal or pseudoautosomal

• Haematological malignancies for rare disease

  BIALLELIC, autosomal or pseudoautosomal

• Primary immunodeficiency or monogenic inflammatory bowel disease

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Shwachman-Diamond syndrome

  0.83

• Shwachman-Diamond syndrome 1

  0.75

• aplastic anemia

  0.57

• acute myeloid leukemia

  0.53

• hereditary disease

  0.53

• myelodysplastic syndrome

  0.47

• acute myeloid leukemia with minimal differentiation

  0.46

• Intellectual disability

  0.44

• anodontia

  0.41

• Splenomegaly

  0.41

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

Protein function (UniProt)