Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis: genes and variants

Genes linked to Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

• POLG: DNA polymerase subunit gamma-1

  It replicates and repairs mitochondrial DNA and is therefore essential for maintaining mitochondrial genome copy number and integrity. Pathogenic variants cause a broad spectrum including Alpers syndrome, progressive external ophthalmoplegia, epilepsy, ataxia, neuropathy, and liver disease.

  6 disease-causing and 25 uncertain variants in POLG are linked to Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis.

Known disease-causing variants in Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

Same protein, different disease

• Progressive sclerosing poliodystrophy is also caused by POLG variants; they fall mostly in different places as the Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis variants (77 disease-causing).
• Mitochondrial DNA depletion syndrome is also caused by POLG variants; they fall mostly in different places as the Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis variants (26 disease-causing).
• Progressive external ophthalmoplegia with mitochondrial DNA deletions is also caused by POLG variants; they fall mostly in different places as the Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis variants (17 disease-causing).
• Mitochondrial disease is also caused by POLG variants; they fall mostly in different places as the Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis variants (6 disease-causing).

Diseases related to Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

• Hereditary spastic paraplegia, also linked to POLG
• Progressive sclerosing poliodystrophy, also linked to POLG
• Mitochondrial DNA depletion syndrome, also linked to POLG
• Fanconi anemia, also linked to POLG
• Progressive external ophthalmoplegia with mitochondrial DNA deletions, also linked to POLG
• Mitochondrial disease, also linked to POLG
• Possible mitochondrial disorder - nuclear genes, also linked to POLG
• Mitochondrial DNA maintenance disorder, also linked to POLG
• Mitochondrial neurogastrointestinal encephalomyopathy, also linked to POLG

Frequently asked questions

Which genes are linked to Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis?

In CATVariant, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis is linked to 1 analyzed protein: POLG (DNA polymerase subunit gamma-1).

How many genetic variants are linked to Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis?

44 variants: 6 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 25 are of uncertain significance or have conflicting reports.

Which uncertain variants in Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis look disease-causing?

None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.

About this data

Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.

Download every variant as CSV · Browse all diseases · Methods · About the Center