QDPR

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

• 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

• Adult onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• dihydropteridine reductase deficiency

  0.85

• Hyperphenylalaninemia

  0.82

• Dystonia

  0.42

• 6-pyruvoyl-tetrahydropterin synthase deficiency

  0.34

• BH4-deficient hyperphenylalaninemia A

  0.34

• hemoglobin E disease

  0.27

• hyperphenylalaninemia due to tetrahydrobiopterin deficiency

  0.27

• hereditary disease

  0.19

• hearing loss disorder

  0.16

• arthropathy

  0.15

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

Protein function (UniProt)

Diseases associated with QDPR

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

• hyperinsulinemic hypoglycemia, familial, 4Rare