AGL

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Acute rhabdomyolysis

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Glycogen storage disease

  BIALLELIC, autosomal or pseudoautosomal

• Ketotic hypoglycaemia

  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

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Disease associations (Open Targets)

• glycogen storage disease III

  0.83

• disorder of glycogen metabolism

  0.77

• Glycogen storage disease due to glycogenin deficiency

  0.61

• hereditary disease

  0.51

• Acute rhabdomyolysis

  0.46

• Abnormality of metabolism/homeostasis

  0.34

• response to xenobiotic stimulus

  0.29

• exfoliative dermatitis

  0.26

• ileostomy

  0.26

• Meniere disease

  0.16

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

Protein function (UniProt)