PHKA2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Glycogen storage disease

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Ketotic hypoglycaemia

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Likely inborn error of metabolism

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Undiagnosed metabolic disorders

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Childhood onset dystonia, chorea or related movement disorder

• Intellectual disability

Disease associations (Open Targets)

• glycogen storage disease IXa1

  0.82

• disorder of glycogen metabolism

  0.66

• glycogen storage disease due to liver phosphorylase kinase deficiency

  0.62

• Glycogen storage disease due to glycogenin deficiency

  0.50

• hereditary disease

  0.50

• Glycogen storage disease due to phosphorylase kinase deficiency

  0.47

• Aland island eye disease

  0.34

• Increased hepatic glycogen content

  0.26

• Intellectual disability

  0.12

• neoplasm

  0.08

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

Protein function (UniProt)