TWNK

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ataxia and cerebellar anomalies - narrow panel

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Hereditary ataxia

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Hereditary ataxia with onset in adulthood

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Hereditary neuropathy or pain disorder

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Inherited white matter disorders

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Mitochondrial disorders

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Mitochondrial DNA maintenance disorder

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

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Disease associations (Open Targets)

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

  0.82

• mitochondrial DNA depletion syndrome 7 (hepatocerebral type)

  0.82

• Perrault syndrome 5

  0.81

• Perrault syndrome

  0.65

• mitochondrial disease

  0.51

• mitochondrial DNA depletion syndrome

  0.51

• autosomal dominant progressive external ophthalmoplegia

  0.37

• Perrault syndrome 2

  0.37

• progressive external ophthalmoplegia with mitochondrial DNA deletions

  0.37

• Perrault syndrome 1

  0.37

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

Protein function (UniProt)