PYGL

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  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

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Hyperammonaemia

+1 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• glycogen storage disease VI

  0.82

• disorder of glycogen metabolism

  0.63

• Glycogen storage disease due to glycogenin deficiency

  0.60

• neurodegenerative disease

  0.37

• colorectal cancer

  0.37

• acute lymphoblastic leukemia

  0.29

• hereditary disease

  0.19

• rectal cancer

  0.15

• glioma

  0.10

• central nervous system cancer

  0.10

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

Protein function (UniProt)