Leukodystrophy - adult onset

Gene: POLG2

Amber List (moderate 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)

I don't know

Despite the inclusion of this gene in the review by Parikh et al 25655951, cannot find specific evidence that white matter changes are prominent in disorders associated with this gene.
Created: 20 Jun 2020, 7:23 a.m. | Last Modified: 20 Jun 2020, 7:23 a.m.
Panel Version: 0.60

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 610131
OMIM
604983
Clinvar variants
Variants in POLG2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: polg2 has been classified as Amber List (Moderate Evidence).

20 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: polg2 has been classified as Amber List (Moderate Evidence).

30 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: POLG2 was added gene: POLG2 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: POLG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POLG2 were set to 25655951 Phenotypes for gene: POLG2 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 610131