SAMD9L

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• COVID-19 research

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Cytopenia - NOT Fanconi anaemia

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Cytopenias and congenital anaemias

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Haematological malignancies cancer susceptibility

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Haematological malignancies for rare disease

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Hereditary ataxia with onset in adulthood

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Hereditary neuropathy or pain disorder

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Inherited predisposition to acute myeloid leukaemia (AML)

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

• ataxia-pancytopenia syndrome

  0.78

• monosomy 7 myelodysplasia and leukemia syndrome 1

  0.69

• spinocerebellar ataxia 49

  0.62

• Ataxia - pancytopenia

  0.62

• Bone marrow hypocellularity

  0.46

• acute myeloid leukemia with minimal differentiation

  0.46

• SAMD9L-associated autoinflammatory syndrome

  0.44

• corneal dystrophy

  0.28

• Intellectual disability

  0.27

• hereditary disease

  0.20

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

Protein function (UniProt)