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
RS568913937 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder, Progressive sclerosing poliodystrophy
RS570989155 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder, Progressive sclerosing poliodystrophy
RS575660501 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder, Progressive sclerosing poliodystrophy
RS587781116 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder, Hereditary spastic paraplegia
RS61752784 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
RS62640030 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder, Progressive sclerosing poliodystrophy
RS62640033 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder, Progressive sclerosing poliodystrophy
RS62640034 Health Risk Conflicting classifications of pathogenicity POLG-related disorder, Progressive sclerosing poliodystrophy, Hereditary spastic paraplegia
RS62640035 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder, Progressive sclerosing poliodystrophy
RS74382477 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Hereditary spastic paraplegia, POLG-related disorder
RS745310138 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder, Progressive sclerosing poliodystrophy
RS745800212 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS745807900 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS746650160 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS746773616 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder, Progressive sclerosing poliodystrophy
RS747154432 Health Risk Conflicting classifications of pathogenicity POLG-related disorder, Progressive sclerosing poliodystrophy, POLG-related disorder
RS748919988 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder, Inborn genetic diseases
RS749522324 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy, Uterine corpus endometrial carcinoma
RS749750052 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS750203541 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS751221993 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS751676137 Health Risk Conflicting classifications of pathogenicity Alpers-like hepatocerebral syndrome, Progressive sclerosing poliodystrophy, Alpers-like hepatocerebral syndrome
RS752500492 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Hereditary spastic paraplegia, POLG-related disorder
RS752712345 Health Risk Conflicting classifications of pathogenicity —
RS753416225 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome
RS754025885 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Sensory ataxic neuropathy, dysarthria
RS754246294 Health Risk Conflicting classifications of pathogenicity POLG-related disorder, Progressive sclerosing poliodystrophy, POLG-related disorder
RS754586219 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 4b, Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions
RS754615624 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS755502359 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS755725702 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Inborn genetic diseases, Progressive sclerosing poliodystrophy
RS757120802 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Inborn genetic diseases, POLG-related disorder
RS757860628 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS758112770 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Neurodevelopmental delay, Progressive external ophthalmoplegia with mitochondrial DNA deletions
RS758402960 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 4b, POLG-related disorder
RS758438414 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS758613718 Health Risk Conflicting classifications of pathogenicity —
RS759128787 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Inborn genetic diseases, Progressive sclerosing poliodystrophy
RS760135553 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS760343963 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Inborn genetic diseases, Progressive sclerosing poliodystrophy
RS760641207 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Progressive sclerosing poliodystrophy, Inborn genetic diseases
RS761080016 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Hereditary spastic paraplegia, Inborn genetic diseases
RS761417163 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Progressive sclerosing poliodystrophy, Inborn genetic diseases
RS761859226 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS761909257 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS763205408 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS763312940 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS764036283 Health Risk Conflicting classifications of pathogenicity POLG-related disorder, Progressive sclerosing poliodystrophy, POLG-related disorder
RS765344513 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Hereditary spastic paraplegia, Progressive sclerosing poliodystrophy
RS765472726 Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, 6 conditions, POLG-related disorder
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