LMAN2L

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

• autosomal recessive non-syndromic intellectual disability

  0.53

• bipolar disorder

  0.51

• intellectual disability, autosomal dominant 52

  0.46

• intellectual developmental disorder, autosomal dominant 69

  0.33

• schizophrenia

  0.31

• major depressive disorder

  0.31

• attention deficit-hyperactivity disorder

  0.31

• autism spectrum disorder

  0.31

• Tourette syndrome

  0.31

• anorexia nervosa

  0.31

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

Protein function (UniProt)