VPS37A

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Adult onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• Adult onset dystonia, chorea or related movement disorder

• Adult onset neurodegenerative disorder

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• Early onset dystonia

• Hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Autosomal recessive spastic paraplegia type 53

  0.58

• HIV infectious disease

  0.53

• hereditary spastic paraplegia 53

  0.47

• viral infectious disease

  0.46

• Paralysis

  0.26

• endocarditis

  0.25

• neurodegenerative disease

  0.22

• hereditary spastic paraplegia

  0.19

• colorectal carcinoma

  0.09

• posterior cortical atrophy

  0.09

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

Protein function (UniProt)