POLG2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Acute rhabdomyolysis

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Fetal anomalies

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

• Possible mitochondrial disorder - nuclear genes

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

• Rhabdomyolysis and metabolic muscle disorders

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4

  0.77

• mitochondrial dna depletion syndrome 16B (neuroophthalmic type)

  0.73

• mitochondrial DNA depletion syndrome 16 (hepatic type)

  0.67

• autosomal dominant progressive external ophthalmoplegia

  0.67

• neurodegenerative disease

  0.46

• acute liver failure

  0.27

• Acute hepatic failure

  0.27

• asthma

  0.26

• hereditary spastic paraplegia

  0.18

• Abnormality of refraction

  0.14

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

Protein function (UniProt)