Mitochondrial neurogastrointestinal encephalomyopathy: genes and variants
Mitochondrial neurogastrointestinal encephalomyopathy is linked to 1 analyzed protein (POLG). 1 DNA variants are known to cause it; 0 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Mitochondrial neurogastrointestinal encephalomyopathy
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.
1 disease-causing and 0 uncertain variants in POLG are linked to Mitochondrial neurogastrointestinal encephalomyopathy.
Known disease-causing variants in Mitochondrial neurogastrointestinal encephalomyopathy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| POLG A168P | 168 | Disease-causing (★) |
Same protein, different disease
- Progressive sclerosing poliodystrophy is also caused by POLG variants; they fall mostly in different places as the Mitochondrial neurogastrointestinal encephalomyopathy variants (77 disease-causing).
- Mitochondrial DNA depletion syndrome is also caused by POLG variants; they fall mostly in different places as the Mitochondrial neurogastrointestinal encephalomyopathy 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 Mitochondrial neurogastrointestinal encephalomyopathy variants (17 disease-causing).
- Mitochondrial disease is also caused by POLG variants; they fall mostly in different places as the Mitochondrial neurogastrointestinal encephalomyopathy variants (6 disease-causing).
- Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis is also caused by POLG variants; they fall mostly in different places as the Mitochondrial neurogastrointestinal encephalomyopathy variants (6 disease-causing).
Diseases related to Mitochondrial neurogastrointestinal encephalomyopathy
- 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
- Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, also linked to POLG
- Possible mitochondrial disorder - nuclear genes, also linked to POLG
- Mitochondrial DNA maintenance disorder, also linked to POLG
Frequently asked questions
Which genes are linked to Mitochondrial neurogastrointestinal encephalomyopathy?
In CATVariant, Mitochondrial neurogastrointestinal encephalomyopathy is linked to 1 analyzed protein: POLG (DNA polymerase subunit gamma-1).
How many genetic variants are linked to Mitochondrial neurogastrointestinal encephalomyopathy?
7 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 0 are of uncertain significance or have conflicting reports.
Which uncertain variants in Mitochondrial neurogastrointestinal encephalomyopathy 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.
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