PAH

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset leukodystrophy

  BIALLELIC, autosomal or pseudoautosomal

• 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

• Phenylketonuria

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

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Disease associations (Open Targets)

• phenylketonuria

  0.89

• Hyperphenylalaninemia

  0.68

• Maternal hyperphenylalaninemia

  0.66

• hereditary disease

  0.55

• 6-pyruvoyl-tetrahydropterin synthase deficiency

  0.54

• BH4-deficient hyperphenylalaninemia A

  0.54

• pulmonary hypertension, primary, 1

  0.46

• polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis

  0.42

• mild hyperphenylalaninemia

  0.38

• malnutrition

  0.37

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

Protein function (UniProt)