POLG Chromosome 15

DNA polymerase gamma, catalytic subunit
543 variants 543 Health Risk

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What This Gene Does
Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA polymerase. The encoded protein contains a polyglutamine tract near its N-terminus that may be polymorphic. Defects in this gene are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO), Alpers-Huttenlocher syndrome (AHS), and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"DNA polymerases|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
15q26.1
Ensembl
ENSG00000140521
Associated Conditions (57)
Progressive sclerosing poliodystrophy
POLG-related disorder
Progressive external ophthalmoplegia with mitochondrial DNA deletions
autosomal dominant 1
autosomal recessive 1
Sensory ataxic neuropathy
dysarthria
and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b
Inborn genetic diseases
Mitochondrial DNA depletion syndrome 1
Global developmental delay
Tip-toe gait
Abnormality of the nervous system
Mitochondrial disease
Hypertrophic cardiomyopathy
Hereditary spastic paraplegia
See cases
Mitochondrial DNA depletion syndrome
6 conditions
+37 more conditions
Key Variants
RS1001570418
Conflicting classifications of pathogenicity
Progressive sclerosing poliodystrophy, POLG-related disorder, Progressive sclerosing poliodystrophy
Health Risk
RS1003442806
Conflicting classifications of pathogenicity
Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
Health Risk
RS1024469208
Conflicting classifications of pathogenicity
Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
Health Risk
RS1032930719
Conflicting classifications of pathogenicity
Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Health Risk
RS1057520997
Conflicting classifications of pathogenicity
Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
Health Risk
RS1057521589
Conflicting classifications of pathogenicity
Progressive sclerosing poliodystrophy, POLG-related disorder, Progressive sclerosing poliodystrophy
Health Risk
RS1057523710
Conflicting classifications of pathogenicity
Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
Health Risk
RS1057524724
Conflicting classifications of pathogenicity
Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
Health Risk
RS1064794213
Conflicting classifications of pathogenicity
Progressive sclerosing poliodystrophy, Inborn genetic diseases, Progressive sclerosing poliodystrophy
Health Risk
RS1064795981
Conflicting classifications of pathogenicity
Inborn genetic diseases, Progressive sclerosing poliodystrophy, Inborn genetic diseases
Health Risk
RS1064797202
Conflicting classifications of pathogenicity
POLG-related disorder, POLG-related disorder
Health Risk
RS113994094
Conflicting classifications of pathogenicity
Mitochondrial DNA depletion syndrome 4b, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Health Risk
All Variants (543)
RSID Category Clinical Significance Conditions
RS1001570418 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder, Progressive sclerosing poliodystrophy
RS1003442806 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1024469208 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1032930719 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
RS1057520997 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1057521589 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder, Progressive sclerosing poliodystrophy
RS1057523710 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1057524724 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1064794213 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Inborn genetic diseases, Progressive sclerosing poliodystrophy
RS1064795981 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Progressive sclerosing poliodystrophy, Inborn genetic diseases
RS1064797202 Health Risk Conflicting classifications of pathogenicity POLG-related disorder, POLG-related disorder
RS113994094 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 4b, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
RS113994096 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 4b, Mitochondrial DNA depletion syndrome 1, Progressive external ophthalmoplegia with mitochondrial DNA deletions
RS113994100 Health Risk Conflicting classifications of pathogenicity —
RS115109291 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Inborn genetic diseases, POLG-related disorder
RS11546842 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
RS121918049 Health Risk Conflicting classifications of pathogenicity Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
RS121918050 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 4b, Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome
RS121918054 Health Risk Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, POLG-related disorder
RS1227630175 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Inborn genetic diseases, Progressive sclerosing poliodystrophy
RS1228287579 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1278715599 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1290567099 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
RS1324794268 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Progressive sclerosing poliodystrophy, Hereditary spastic paraplegia
RS1370721886 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1378786011 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS138457939 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, 6 conditions, POLG-related disorder
RS138929605 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome, Mitochondrial DNA depletion syndrome 4b
RS139488968 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS139599587 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
RS140262282 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1405268319 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 4b, Progressive sclerosing poliodystrophy
RS140743000 Health Risk Conflicting classifications of pathogenicity POLG-related disorder, Progressive sclerosing poliodystrophy, Inborn genetic diseases
RS141538857 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Inborn genetic diseases, Progressive sclerosing poliodystrophy
RS1419141450 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1426811174 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1427384868 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Inborn genetic diseases, Progressive sclerosing poliodystrophy
RS1427798436 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1429417228 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS143631183 Health Risk Conflicting classifications of pathogenicity POLG-related disorder, Progressive sclerosing poliodystrophy, Inborn genetic diseases
RS143810171 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder, Inborn genetic diseases
RS144346886 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Inborn genetic diseases, Progressive sclerosing poliodystrophy
RS144439703 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder, Hereditary spastic paraplegia
RS1452571273 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS145289229 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, 6 conditions, POLG-related disorder
RS145843073 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Lennox-Gastaut syndrome, 6 conditions
RS146301349 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder, Progressive sclerosing poliodystrophy
RS146584956 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Hereditary spastic paraplegia, Progressive sclerosing poliodystrophy
RS146936870 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Inborn genetic diseases, Progressive sclerosing poliodystrophy
RS147282197 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Autism, Seizure
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