SPART

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Childhood onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• Inherited white matter disorders

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• White matter disorders and cerebral calcification - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• Adult onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• Adult onset neurodegenerative disorder

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Troyer syndrome

  0.80

• Neurodevelopmental delay

  0.45

• hereditary disease

  0.42

• Global developmental delay

  0.26

• cerebellar ataxia

  0.26

• Strabismus

  0.26

• Dysarthria

  0.26

• microcephaly

  0.26

• Failure to thrive

  0.26

• eye disorder

  0.25

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

Protein function (UniProt)