GLRA1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Brain channelopathy

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• DDG2P

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Hereditary ataxia with onset in adulthood

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Paroxysmal central nervous system disorders

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Sudden death in young people

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• hereditary hyperekplexia

  0.83

• Pain

  0.55

• hereditary disease

  0.41

• sedation

  0.38

• acute respiratory distress syndrome

  0.38

• Fever

  0.37

• delirium

  0.37

• aortic valve disorder

  0.32

• mitral valve disorder

  0.32

• type 2 diabetes mellitus

  0.31

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

Protein function (UniProt)