Rhabdomyolysis and metabolic muscle disorders
Gene: POLG2

POLG2 (DNA polymerase gamma 2, accessory subunit)
EnsemblGeneIds (GRCh38): ENSG00000256525
EnsemblGeneIds (GRCh37): ENSG00000256525
OMIM: 604983, Gene2Phenotype
POLG2 is in 14 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment on mode of inheritance: Reporting and characterization of a homozygous POLG2 variant in mitochondrial DNA depletion syndrome (PMID 27592148; 30157269)
Created: 8 Aug 2019, 11:47 a.m. | Last Modified: 8 Aug 2019, 11:47 a.m.

Panel Version: 1.27

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least 3 variants mongenic variants reported
Created: 5 Dec 2016, 11:39 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 610131

Publications

25929793

Created: 1 Dec 2016, 1:51 p.m.

Panel version: 0.30

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen
Literature
Emory Genetics Laboratory
Illumina TruGenome Clinical Sequencing Services
UKGTN

Phenotypes

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 610131

OMIM

604983

Clinvar variants

Variants in POLG2

Penetrance

Complete

Publications

Panels with this gene