GAMT

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Adult onset dystonia, chorea or related movement disorder

• Adult onset neurodegenerative disorder

  Unknown

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• guanidinoacetate methyltransferase deficiency

  0.85

• cerebral creatine deficiency syndrome

  0.58

• hereditary disease

  0.53

• Intellectual disability

  0.37

• Seizure

  0.37

• Abnormality of the nervous system

  0.34

• Parkinson disease

  0.34

• late-onset Parkinson disease

  0.34

• Hereditary late-onset Parkinson disease

  0.34

• metabolic syndrome

  0.07

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

Protein function (UniProt)