Genetic Epilepsy

Gene: POLG2

I don't know

Seizures are a rare manifestation of this disorder.

Created: 5 Jan 2024, 2:10 a.m. | Last Modified: 5 Jan 2024, 2:10 a.m.

Panel Version: 0.2148

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

I don't know

PMID:21555342 reports 4/11 unrelated individuals with mitochondrial disease as presenting with seizures and heterozygous variants in POLG2, 3/4 of these individuals had missense variants. Of these variants, 2 have been reported in Clinvar as benign and have high homozygote counts in gnomAD V4. The p.P205R variant was seen in an individual with seizures and is absent from gnomAD V4 and has been reported as pathogenic once in ClinVar for MIM#610131.

The last individual with seizures had a high impact variant (p.L475DfsX2) with 3 heterozygotes in the population (V4) which has been classified as pathogenic in ClinVar.

Overall, 2/11 unrelated individuals with plausible pathogenic variants presenting with seizures.
Sources: Literature

Created: 5 Jan 2024, 1:07 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

• PMID: 21555342