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Early onset or syndromic epilepsy v2.585 POLG2 Arina Puzriakova Phenotypes for gene: POLG2 were changed from Mitochondrial DNA depletion syndrome 16 (hepatic type), 618528; Autosomal Recessive Epilepsy Family Without Ophthalmoplegia; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131 to Mitochondrial DNA depletion syndrome syndrome 16 (hepatic type), OMIM:618528; Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type), OMIM:619425; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131
Early onset or syndromic epilepsy v1.346 POLG2 Rebecca Foulger Phenotypes for gene: POLG2 were changed from Autosomal Recessive Epilepsy Family Without Ophthalmoplegia; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131 to Mitochondrial DNA depletion syndrome 16 (hepatic type), 618528; Autosomal Recessive Epilepsy Family Without Ophthalmoplegia; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131
Early onset or syndromic epilepsy v1.345 POLG2 Rebecca Foulger Phenotypes for gene: POLG2 were changed from Autosomal Recessive Epilepsy Family Without Ophthalmoplegia to Autosomal Recessive Epilepsy Family Without Ophthalmoplegia; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131
Early onset or syndromic epilepsy v1.344 POLG2 Rebecca Foulger Added comment: Comment on mode of inheritance: Kept rating as Amber to match Helen Lord's review, but changed MOI from biallelic to 'BOTH biallelic and monoallelic' since (as Helen Lord notes) Young et al 2011 (PMID:21555342) report 4/11 patients with seizures as part of their phenotype and heterozygous variants in POLG2.
Early onset or syndromic epilepsy v1.344 POLG2 Rebecca Foulger Mode of inheritance for gene: POLG2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.342 POLG2 Rebecca Foulger Publications for gene: POLG2 were set to 31286721; 27592148; 30157269
Early onset or syndromic epilepsy v1.336 POLG2 Helen Lord reviewed gene: POLG2: Rating: AMBER; Mode of pathogenicity: None; Publications: 21555342, 27592148, 30157269, 31286721; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.198 POLG2 Sarah Leigh Classified gene: POLG2 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.198 POLG2 Sarah Leigh Added comment: Comment on list classification: Single case of recessive epilepsy.
Early onset or syndromic epilepsy v1.198 POLG2 Sarah Leigh Gene: polg2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.197 POLG2 Sarah Leigh gene: POLG2 was added
gene: POLG2 was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: POLG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLG2 were set to 31286721; 27592148; 30157269
Phenotypes for gene: POLG2 were set to Autosomal Recessive Epilepsy Family Without Ophthalmoplegia
Review for gene: POLG2 was set to AMBER
Added comment: Single case of Autosomal Recessive Epilepsy Family Without Ophthalmoplegia in a 27-year-old Pakistani male, who was homozygous for POLG2 c.694G>A, p.G232S. Both his parents were heterozygous for this variant, and none of them had liver disease, ophthalmoplegia, ptosis, nystagmus, or myopathy, and the parents showed no symptoms of epilepsy or ophthalmoplegia.
Sources: Literature