ACTC1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Arthrogryposis

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Dilated and arrhythmogenic cardiomyopathy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Dilated Cardiomyopathy and conduction defects

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Hypertrophic cardiomyopathy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Left Ventricular Noncompaction Cardiomyopathy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Paediatric disorders - additional genes

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

+5 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• hypertrophic cardiomyopathy

  0.80

• atrial septal defect 5

  0.75

• left ventricular noncompaction

  0.74

• hypertrophic cardiomyopathy 11

  0.74

• familial isolated dilated cardiomyopathy

  0.66

• left ventricular noncompaction 4

  0.63

• atrial septal defect

  0.55

• Abnormality of the cardiovascular system

  0.51

• Left ventricular noncompaction cardiomyopathy

  0.49

• cardiomyopathy

  0.48

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

Protein function (UniProt)

Diseases associated with ACTC1

Curated MONDO disease pages that list ACTC1 among their top associated genes.

• hypertrophic cardiomyopathyRare
• familial isolated dilated cardiomyopathyRare