Rhabdomyolysis and metabolic muscle disordersGene: POLG2
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
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 610131
Publications for gene: POLG2 were set to 25929793
Mode of inheritance for gene: POLG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Panel promoted to V1 4th January 2017
This gene has been classified as Green List (High Evidence).
POLG2 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Literature,Radboud University Medical Center, Nijmegen,UKGTN
POLG2 was created by sleigh