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  3. POLG2
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Gastrointestinal neuromuscular disease

Gene: POLG2

Red List (low 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 Myopathy - adult onset panel version Imported from Mendeliome panel version 0.8389

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

3 unrelated cases have been reported with gastrointestinal symptoms and 3 different heterozygous missense (L153V, R369G, S423Y). All 3 missense are too common in gnomAD v2.1 for a dominant disease and biochemical assays demonstrated normal function for all expect R369G variants had reduced stimulation of processivity and decreased affinity for the catalytic subunit.
Sources: Expert list
Created: 15 Jul 2020, 1:38 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 15 Jul 2020, 1:38 a.m.

Panel version: 0.28

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Red
  • Expert list
  • 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 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: polg2 has been classified as Red List (Low Evidence).

15 Jul 2020, Gel status: 1

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 Gastrointestinal neuromuscular disease. Sources: Expert list Mode of inheritance for gene: POLG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POLG2 were set to 21555342; 27775730 Phenotypes for gene: POLG2 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 MIM#610131 Review for gene: POLG2 was set to RED