ARSA

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 leukodystrophy

  BIALLELIC, autosomal or pseudoautosomal

• Adult onset neurodegenerative disorder

  BIALLELIC, autosomal or pseudoautosomal

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• metachromatic leukodystrophy

  0.88

• metachromatic leukodystrophy, juvenile form

  0.78

• metachromatic leukodystrophy, adult form

  0.61

• metachromatic leukodystrophy, late infantile form

  0.59

• hereditary disease

  0.52

• neurodevelopmental disorder

  0.41

• Multiple sulfatase deficiency

  0.38

• Dystonia

  0.37

• leukodystrophy

  0.34

• spastic ataxia

  0.34

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

Protein function (UniProt)