ACTG1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Clefting

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Malformations of cortical development

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Monogenic hearing loss

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Ocular coloboma

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Rare syndromic craniosynostosis or isolated multisuture synostosis

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

• Baraitser-Winter syndrome

  0.83

• autosomal dominant nonsyndromic hearing loss

  0.74

• Baraitser-Winter cerebrofrontofacial syndrome

  0.66

• cancer

  0.61

• Noonan syndrome

  0.53

• hypertrophic cardiomyopathy

  0.50

• Costello syndrome

  0.50

• neurodegenerative disease

  0.50

• hereditary disease

  0.48

• nonsyndromic genetic hearing loss

  0.45

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

Protein function (UniProt)

Diseases associated with ACTG1

Curated MONDO disease pages that list ACTG1 among their top associated genes.

• autosomal dominant nonsyndromic hearing lossRare