| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.2149 | POLG2 | Zornitza Stark Marked gene: POLG2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2149 | POLG2 | Zornitza Stark Gene: polg2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2149 | POLG2 | Zornitza Stark Classified gene: POLG2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2149 | POLG2 | Zornitza Stark Gene: polg2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2148 | POLG2 | Zornitza Stark reviewed gene: POLG2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 MIM#610131; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2146 | POLG2 |
Chris Ciotta gene: POLG2 was added gene: POLG2 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: POLG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POLG2 were set to PMID: 21555342 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 AMBER Added comment: 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 |
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