MYH11

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Gastrointestinal neuromuscular disorders

  BIALLELIC, autosomal or pseudoautosomal

• Paediatric disorders - additional genes

  BIALLELIC, autosomal or pseudoautosomal

• Paediatric pseudo-obstruction syndrome

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Thoracic aortic aneurysm or dissection

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Thoracic aortic aneurysm or dissection (GMS)

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Cerebral vascular malformations

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• CAKUT

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• aortic aneurysm, familial thoracic 4

  0.76

• megacystis-microcolon-intestinal hypoperistalsis syndrome 2

  0.75

• familial thoracic aortic aneurysm and aortic dissection

  0.71

• visceral myopathy 2

  0.57

• neurodegenerative disease

  0.53

• familial visceral myopathy

  0.50

• Rare genetic vascular disease

  0.48

• megacystis-microcolon-intestinal hypoperistalsis syndrome 1

  0.47

• megacystis-microcolon-intestinal hypoperistalsis syndrome

  0.46

• coronary artery disorder

  0.43

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

Protein function (UniProt)