SOS2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Fetal hydrops

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Monogenic short stature

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Paediatric or syndromic cardiomyopathy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Pigmentary skin disorders

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Primary lymphoedema

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

• Noonan syndrome

  0.82

• Noonan syndrome 9

  0.76

• hypertensive disorder

  0.55

• essential hypertension

  0.51

• gout

  0.48

• RASopathy

  0.47

• kidney failure

  0.45

• Increased blood pressure

  0.43

• cardiovascular disorder

  0.43

• open-angle glaucoma

  0.43

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

Protein function (UniProt)