TK2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Acute rhabdomyolysis

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial DNA maintenance disorder

  BIALLELIC, autosomal or pseudoautosomal

• Possible mitochondrial disorder - nuclear genes

  BIALLELIC, autosomal or pseudoautosomal

• Rhabdomyolysis and metabolic muscle disorders

  BIALLELIC, autosomal or pseudoautosomal

+8 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• mitochondrial DNA depletion syndrome, myopathic form

  0.83

• progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3

  0.76

• mitochondrial disease

  0.65

• autosomal recessive progressive external ophthalmoplegia

  0.64

• mitochondrial DNA depletion syndrome

  0.55

• neurodegenerative disease

  0.42

• hereditary disease

  0.41

• inborn mitochondrial metabolism disorder

  0.37

• myopathy

  0.34

• Abnormality of the musculature

  0.27

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

Protein function (UniProt)