KMT2B

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset dystonia, chorea or related movement disorder

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Childhood onset dystonia, chorea or related movement disorder

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Early onset dystonia

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Severe microcephaly

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Structural basal ganglia disorders

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

• dystonia 28, childhood-onset

  0.82

• intellectual developmental disorder, autosomal dominant 68

  0.66

• hereditary disease

  0.54

• Dystonia

  0.46

• complex neurodevelopmental disorder with motor features

  0.46

• Dysarthria

  0.44

• dystonic disorder

  0.44

• neurodegenerative disease

  0.43

• generalized dystonia

  0.40

• complex neurodevelopmental disorder

  0.37

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

Protein function (UniProt)