HSPD1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary spastic paraplegia

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Inherited white matter disorders

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

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Disease associations (Open Targets)

• hypomyelinating leukodystrophy 4

  0.77

• Autosomal dominant spastic paraplegia type 13

  0.75

• Pelizaeus-Merzbacher-like disease due to HSPD1 mutation

  0.74

• hereditary spastic paraplegia 13

  0.67

• Pelizaeus-Merzbacher-like disease

  0.56

• neurodegenerative disease

  0.56

• leukodystrophy

  0.46

• atrial fibrillation

  0.29

• Spastic paraplegia

  0.21

• hereditary spastic paraplegia

  0.20

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

Protein function (UniProt)