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Mendeliome

Gene: POLG2

Green List (high evidence)

POLG2 (DNA polymerase gamma 2, accessory subunit)
EnsemblGeneIds (GRCh38): ENSG00000256525
EnsemblGeneIds (GRCh37): ENSG00000256525
OMIM: 604983, Gene2Phenotype
POLG2 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mono-allelic disease: more than 10 individuals reported.

Bi-allelic disease: two reports only, one presenting with fulminant liver failure in infancy, and the other an adult with predominantly neurological phenotype. Both had missense variants. Limited evidence.
Created: 18 Jul 2021, 11:20 p.m. | Last Modified: 18 Jul 2021, 11:20 p.m.
Panel Version: 0.8389

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MIM# 610131; Mitochondrial DNA depletion syndrome 16 , MIM# 618528

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MIM# 610131
  • Mitochondrial DNA depletion syndrome 16 , MIM# 618528
OMIM
604983
Clinvar variants
Variants in POLG2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: polg2 has been classified as Green List (High Evidence).

18 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: POLG2 were changed from to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MIM# 610131; Mitochondrial DNA depletion syndrome 16 , MIM# 618528

18 Jul 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: POLG2 were set to

18 Jul 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: POLG2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: POLG2 was added gene: POLG2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: POLG2 was set to Unknown