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  3. POLG2
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Rhabdomyolysis and Metabolic Myopathy

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

2 reviews

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

Created: 18 Jul 2021, 11:20 p.m.
Last Modified: 18 Jul 2021, 11:20 p.m.
Panel version: Imported from Mendeliome panel version 0.8389

Elena Savva (Victorian Clinical Genetics Services)

I don't know

PMID: 21555342 - 11* patients with mitochondrial disease. Muscle weakness or hypotonia reported in 2/2 children.
*most patients in this study carried common polymorphisms, have been excluded from review.

PMID: 22155748 - 1 patient with adult onset (<40 years old) proximal muscle weakness

PMID: 20405137 - 1 patient with adult onset (>30 years old) muscle weakness, elevated CK levels and exercise intolerance. Variant also present in her asymptomatic brother.

PMID: 31286721;31778857 - patients with recessive mitochondrial disease do not display a myopathy phenotype.

Summary: few reports overall, no consistent age of onset.
Sources: Expert list
Created: 22 Jun 2020, 1:46 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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

Publications

Created: 22 Jun 2020, 1:46 a.m.

Panel version: Imported from Myopathy - paediatric onset panel version 0.232

Details

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

History Filter Activity

15 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

15 Apr 2023, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: POLG2 were changed from Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 610131 to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MIM# 610131

15 Apr 2023, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: POLG2 were set to

14 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

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