PTS

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Neurotransmitter disorders

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

+3 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• BH4-deficient hyperphenylalaninemia A

  0.85

• 6-pyruvoyl-tetrahydropterin synthase deficiency

  0.84

• Hyperphenylalaninemia

  0.83

• Intellectual disability

  0.46

• Dystonia

  0.42

• GTP cyclohydrolase I deficiency with hyperphenylalaninemia

  0.42

• hyperphenylalaninemia due to tetrahydrobiopterin deficiency

  0.35

• hemoglobin E disease

  0.34

• Noonan syndrome

  0.27

• hereditary disease

  0.19

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

Protein function (UniProt)

Diseases associated with PTS

Curated MONDO disease pages that list PTS among their top associated genes.

• hyperinsulinemic hypoglycemia, familial, 4Rare