CPT2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Acute rhabdomyolysis

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Hyperammonaemia

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

  BIALLELIC, autosomal or pseudoautosomal

• Paediatric or syndromic cardiomyopathy

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Rhabdomyolysis and metabolic muscle disorders

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

+7 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• carnitine palmitoyl transferase II deficiency, myopathic form

  0.83

• carnitine palmitoyl transferase II deficiency, severe infantile form

  0.80

• carnitine palmitoyl transferase II deficiency, neonatal form

  0.77

• carnitine palmitoyltransferase II deficiency

  0.71

• hereditary disease

  0.51

• Acute rhabdomyolysis

  0.49

• angina pectoris

  0.37

• cardiovascular disorder

  0.37

• Abnormality of the musculature

  0.34

• Seizure

  0.34

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

Protein function (UniProt)