MAST4

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Early onset or syndromic epilepsy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

• neurodevelopmental disorder

  0.50

• alcohol drinking

  0.45

• Abnormality of the skeletal system

  0.39

• infantile spasms

  0.34

• hypertensive disorder

  0.34

• kidney cancer

  0.31

• bullous pemphigoid

  0.31

• essential hypertension

  0.30

• mathematical ability

  0.30

• spondylolisthesis

  0.29

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