Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
POLG Polymerase (DNA directed), gamma(M)       | 15q25 | * Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal - PEOA1 (13.98, 16.34, 16.40, 16.48, 16.49)* Mitochondrial DNA depletion syndrome 4A (Alpers type) - MTDPS4A (13.98, 16.34, 16.40, 16.48, 16.49)* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 - PEOB1 (13.98, 16.34, 16.40, 16.48, 16.49)* Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis - SANDO (13.98, 16.34, 16.40, 16.48, 16.49)* spinocerebellar ataxia with epilepsy, included - SCAE (13.98, 16.34, 16.40, 16.48, 16.49)* Mitochondrial DNA depletion syndrome 4B (MNGIE type) - MTDPS4B (13.98, 16.34, 16.40, 16.48, 16.49) |
POLG Polymerase (DNA directed), gamma(M) | 15q25 | * Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal - PEOA1 (13.98, 16.34, 16.40, 16.48, 16.49)* Mitochondrial DNA depletion syndrome 4A (Alpers type) - MTDPS4A (13.98, 16.34, 16.40, 16.48, 16.49)* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 - PEOB1 (13.98, 16.34, 16.40, 16.48, 16.49)* Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis - SANDO (13.98, 16.34, 16.40, 16.48, 16.49)* spinocerebellar ataxia with epilepsy, included - SCAE (13.98, 16.34, 16.40, 16.48, 16.49)* Mitochondrial DNA depletion syndrome 4B (MNGIE type) - MTDPS4B (13.98, 16.34, 16.40, 16.48, 16.49) |
POLG2 Mitochondrial DNA polymerase, accessory subunit(M) | 17q24.1 | * progressive external ophthalmoplegia, autosomal dominant, 4 - PEOA4 (16.37) |