ACTG2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• CAKUT

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Gastrointestinal neuromuscular disorders

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Paediatric disorders - additional genes

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Paediatric pseudo-obstruction syndrome

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Unexplained kidney failure in young people

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Unexplained young onset end-stage renal disease - additional genes

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Laterality disorders and isomerism

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Disease associations (Open Targets)

• visceral myopathy 1

  0.82

• megacystis-microcolon-intestinal hypoperistalsis syndrome 5

  0.78

• familial visceral myopathy

  0.77

• megacystis-microcolon-intestinal hypoperistalsis syndrome 1

  0.60

• megacystis-microcolon-intestinal hypoperistalsis syndrome

  0.59

• chronic intestinal pseudoobstruction

  0.53

• hereditary disease

  0.50

• Megacystis

  0.42

• Fetal megacystis

  0.37

• congenital anomaly of kidney and urinary tract

  0.37

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

Protein function (UniProt)