SLC2A1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset dystonia, chorea or related movement disorder

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Ataxia and cerebellar anomalies - narrow panel

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Bilateral congenital or childhood onset cataracts

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Brain channelopathy

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Childhood onset hereditary spastic paraplegia

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Cytopenias and congenital anaemias

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

• encephalopathy due to GLUT1 deficiency

  0.85

• Paroxysmal exertion-induced dyskinesia

  0.80

• dystonia 9

  0.79

• hereditary cryohydrocytosis with reduced stomatin

  0.78

• idiopathic generalized epilepsy

  0.76

• childhood onset GLUT1 deficiency syndrome 2

  0.73

• Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity

  0.66

• Seizure

  0.64

• Intellectual disability

  0.63

• GLUT1 deficiency syndrome

  0.60

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

Protein function (UniProt)