GYG1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Acute rhabdomyolysis

  BIALLELIC, autosomal or pseudoautosomal

• Glycogen storage disease

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Rhabdomyolysis and metabolic muscle disorders

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Hypertrophic cardiomyopathy

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

• Ketotic hypoglycaemia

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• polyglucosan body myopathy type 2

  0.78

• glycogen storage disease XV

  0.76

• Glycogen storage disease due to glycogenin deficiency

  0.63

• disorder of glycogen metabolism

  0.55

• polyglucosan body myopathy

  0.47

• neurodegenerative disease

  0.37

• allergic contact dermatitis

  0.29

• atrial fibrillation

  0.27

• Acute rhabdomyolysis

  0.27

• hypertrophic cardiomyopathy

  0.20

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

Protein function (UniProt)