CHKB

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Acute rhabdomyolysis

  BIALLELIC, autosomal or pseudoautosomal

• Congenital muscular dystrophy

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Rhabdomyolysis and metabolic muscle disorders

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Arthrogryposis

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect

  0.76

• megaconial type congenital muscular dystrophy

  0.75

• hereditary disease

  0.45

• neurodegenerative disease

  0.39

• muscular dystrophy

  0.29

• chronic obstructive pulmonary disease

  0.18

• Seizure

  0.12

• Severe global developmental delay

  0.12

• Blount disease

  0.09

• upper limb mesomelic dysplasia

  0.09

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

Protein function (UniProt)