HPRT1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Childhood onset dystonia, chorea or related movement disorder

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• DDG2P

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Early onset dystonia

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Intellectual disability

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Likely inborn error of metabolism

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Nephrocalcinosis or nephrolithiasis

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Undiagnosed metabolic disorders

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Early onset or syndromic epilepsy

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

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Disease associations (Open Targets)

• Lesch-Nyhan syndrome

  0.86

• hypoxanthine guanine phosphoribosyltransferase partial deficiency

  0.83

• neurodegenerative disease

  0.44

• Dystonia

  0.37

• autoimmune disorder of central nervous system

  0.37

• nephrocalcinosis

  0.36

• hereditary disease

  0.12

• microcephaly

  0.11

• Parkinson disease

  0.11

• head and neck squamous cell carcinoma

  0.10

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

Protein function (UniProt)