PHKA1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Acute rhabdomyolysis

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

• Glycogen storage disease

  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

• Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

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

• Rhabdomyolysis and metabolic muscle disorders

  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

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Disease associations (Open Targets)

• glycogen storage disease IXd

  0.80

• Glycogen storage disease due to phosphorylase kinase deficiency

  0.48

• hereditary disease

  0.47

• Cornelia de Lange syndrome

  0.34

• autoimmune disorder of central nervous system

  0.31

• disorder of glycogen metabolism

  0.27

• ornithine carbamoyltransferase deficiency

  0.27

• neurodegenerative disease

  0.19

• Intellectual disability

  0.12

• peripheral neuropathy

  0.12

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

Protein function (UniProt)