SLC1A3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ataxia and cerebellar anomalies - narrow panel

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Brain channelopathy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Hereditary ataxia

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Hereditary ataxia with onset in adulthood

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Paroxysmal central nervous system disorders

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Skeletal Muscle Channelopathies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Childhood onset dystonia, chorea or related movement disorder

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Adult onset dystonia, chorea or related movement disorder

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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Disease associations (Open Targets)

• episodic ataxia type 6

  0.77

• neurodegenerative disease

  0.49

• osteoporosis

  0.45

• Familial paroxysmal ataxia

  0.39

• Isaacs syndrome

  0.37

• autoimmune disorder of central nervous system

  0.37

• bone disorder

  0.31

• placenta praevia

  0.30

• cutaneous melanoma

  0.29

• biliary tract disorder

  0.27

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

Protein function (UniProt)