Mitochondrial disease
Gene: POLG2

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, 11:18 p.m. | Last Modified: 18 Jul 2021, 11:18 p.m.

Panel Version: 0.640

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

Created: 18 Jul 2021, 11:18 p.m.
Last Modified: 18 Jul 2021, 11:18 p.m.
Panel version: 0.640

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Mitochondrial Flagship

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