ACTA2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Cerebral vascular malformations

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Gastrointestinal neuromuscular disorders

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Paediatric pseudo-obstruction syndrome

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Thoracic aortic aneurysm or dissection

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Thoracic aortic aneurysm or dissection (GMS)

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Ehlers Danlos syndrome with a likely monogenic cause

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

• aortic aneurysm, familial thoracic 6

  0.81

• multisystemic smooth muscle dysfunction syndrome

  0.79

• Moyamoya disease 5

  0.76

• familial thoracic aortic aneurysm and aortic dissection

  0.74

• Moyamoya disease

  0.64

• thoracic aortic aneurysm

  0.60

• Rare disease with thoracic aortic aneurysm and aortic dissection

  0.58

• Rare genetic vascular disease

  0.54

• Abnormality of the cardiovascular system

  0.49

• lymphoid leukemia

  0.47

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

Protein function (UniProt)