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  2. Congenital ophthalmoplegia
  3. POLG2
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Congenital ophthalmoplegia

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

1 review

Shannon LeBlanc (Victorian Clinical Genetics Services)

Green List (high evidence)

PEOA4 - age of onset range from infancy to adulthood.
Sources: Literature
Created: 2 Dec 2020, 12:15 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome 16 (hepatic type) - 618528; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 - 610131

Publications

Created: 2 Dec 2020, 12:15 a.m.

Panel version: 0.66

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial DNA depletion syndrome 16 (hepatic type) - 618528
  • 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

2 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

2 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: POLG2 were set to PMID: 21555342; 16685652

2 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

2 Dec 2020, Gel status: 0

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

Shannon LeBlanc (Victorian Clinical Genetics Services)

gene: POLG2 was added gene: POLG2 was added to Congenital ophthalmoplegia. Sources: Literature Mode of inheritance for gene: POLG2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: POLG2 were set to PMID: 21555342; 16685652 Phenotypes for gene: POLG2 were set to Mitochondrial DNA depletion syndrome 16 (hepatic type) - 618528; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 - 610131 Review for gene: POLG2 was set to GREEN