PFKM

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Acute rhabdomyolysis

  BIALLELIC, autosomal or pseudoautosomal

• Arthrogryposis

  BIALLELIC, autosomal or pseudoautosomal

• Cytopenias and congenital anaemias

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Glycogen storage disease

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

  BIALLELIC, autosomal or pseudoautosomal

• Rare anaemia

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• glycogen storage disease VII

  0.82

• disorder of glycogen metabolism

  0.34

• Peroxisome biogenesis disorder-Zellweger syndrome spectrum

  0.33

• anemia (phenotype)

  0.32

• neurodegenerative disease

  0.32

• focal epilepsy

  0.26

• rhabdomyolysis

  0.26

• hereditary disease

  0.19

• mathematical ability

  0.19

• smoking initiation

  0.13

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

Protein function (UniProt)