SPG11

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• Adult onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• Adult onset leukodystrophy

  BIALLELIC, autosomal or pseudoautosomal

• Adult onset neurodegenerative 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 neuropathy

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Autosomal recessive spastic paraplegia type 11

  0.79

• hereditary spastic paraplegia 11

  0.79

• Charcot-Marie-Tooth disease axonal type 2X

  0.77

• amyotrophic lateral sclerosis type 5

  0.75

• hereditary spastic paraplegia

  0.70

• juvenile amyotrophic lateral sclerosis

  0.60

• hereditary disease

  0.55

• Spastic paraplegia

  0.50

• Abnormal central motor function

  0.49

• metabolic disease

  0.43

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

Protein function (UniProt)

Diseases associated with SPG11

Curated MONDO disease pages that list SPG11 among their top associated genes.

• hereditary spastic paraplegiaRare