ASH1L

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Early onset or syndromic epilepsy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

• intellectual disability, autosomal dominant 52

  0.81

• Intellectual disability

  0.60

• hereditary disease

  0.54

• neurodevelopmental disorder

  0.41

• syndromic complex neurodevelopmental disorder

  0.40

• autosomal dominant non-syndromic intellectual disability

  0.37

• atrial fibrillation

  0.37

• Neurodevelopmental delay

  0.34

• Abnormality of the skeletal system

  0.30

• autism spectrum disorder

  0.29

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

Protein function (UniProt)