SOS1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult solid tumours cancer susceptibility

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Childhood solid tumours

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Childhood solid tumours cancer susceptibility

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Embryonal tumour of possible germline origin

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal hydrops

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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Disease associations (Open Targets)

• Noonan syndrome

  0.87

• hereditary gingival fibromatosis

  0.72

• RASopathy

  0.67

• cancer

  0.60

• Noonan syndrome and Noonan-related syndrome

  0.57

• Abnormality of the cardiovascular system

  0.54

• bone development disease

  0.53

• Noonan syndrome 3

  0.42

• hypertensive disorder

  0.41

• endometrial cancer

  0.37

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

Protein function (UniProt)

Diseases associated with SOS1

Curated MONDO disease pages that list SOS1 among their top associated genes.

• endometrial endometrioid adenocarcinomaRare