PHKB

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• 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

• Acute rhabdomyolysis

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

• Rhabdomyolysis and metabolic muscle disorders

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• glycogen storage disease IXb

  0.76

• disorder of glycogen metabolism

  0.59

• Glycogen storage disease due to phosphorylase kinase deficiency

  0.52

• Glycogen storage disease due to glycogenin deficiency

  0.50

• mitochondrial disease

  0.43

• liver disorder

  0.26

• dementia

  0.25

• familial glucocorticoid deficiency

  0.25

• hereditary disease

  0.19

• neurodegenerative disease

  0.17

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

Protein function (UniProt)