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Early onset or syndromic epilepsy v2.473 EXOSC3 Arina Puzriakova Phenotypes for gene: EXOSC3 were changed from Pontocerebellar hypoplasia, type 1B, 614678 to Pontocerebellar hypoplasia, type 1B, OMIM:614678
Early onset or syndromic epilepsy v1.191 EXOSC3 Rebecca Foulger Source Wessex and West Midlands GLH was added to EXOSC3.
Early onset or syndromic epilepsy v1.190 EXOSC3 Rebecca Foulger Source NHS GMS was added to EXOSC3.
Early onset or syndromic epilepsy v1.189 EXOSC3 Rebecca Foulger edited their review of gene: EXOSC3: Added comment: Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.188 EXOSC3 Tracy Lester reviewed gene: EXOSC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 24524299; Phenotypes: Pontocerebellar hypoplasia, type 1B, 614678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1310 EXOSC3 Rebecca Foulger Publications for gene: EXOSC3 were set to 25144110; 25149867; 23975261
Early onset or syndromic epilepsy v0.1293 EXOSC3 Rebecca Foulger Marked gene: EXOSC3 as ready
Early onset or syndromic epilepsy v0.1293 EXOSC3 Rebecca Foulger Gene: exosc3 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1293 EXOSC3 Rebecca Foulger Classified gene: EXOSC3 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1293 EXOSC3 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Green review by Zornitza plus sufficient unrelated cases (>3) of seizures in patients with EXOSC3 variants from PMIDs:24524299 and 23284067 for inclusion on panel.
Early onset or syndromic epilepsy v0.1293 EXOSC3 Rebecca Foulger Gene: exosc3 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1292 EXOSC3 Rebecca Foulger commented on gene: EXOSC3: Rudnik-Schoneborn et al 2013 (PMID:23284067) detected biallelic variants in EXOSC3 in 15 patients (10 of 27 families). Epileptic seizures occurred in 3 patients in 2 families, including absence epilepsy in patient 2-1 and infantile spasms in 2 sisters (5-1 and 5-2).
Early onset or syndromic epilepsy v0.1254 EXOSC3 Rebecca Foulger commented on gene: EXOSC3: PMID:24524299 (Eggens et al, 2014) summarise 14 patients with the EXOSC3 variants out of a cohort of 99 PCH patients (90 families). Seizures are reported in patients 7-I and Patient 8. Seizures were not recorded in the p.G31A group (6 patients, 5 families).
Early onset or syndromic epilepsy v0.1254 EXOSC3 Rebecca Foulger commented on gene: EXOSC3: PMID:23883322: states that Epileptic seizures were not noted in any of their patients.
Early onset or syndromic epilepsy v0.1254 EXOSC3 Rebecca Foulger Publications for gene: EXOSC3 were set to
Early onset or syndromic epilepsy v0.1253 EXOSC3 Rebecca Foulger commented on gene: EXOSC3: PMID:25144110 summary confirms that epileptic seizures are reported in some patients.
Early onset or syndromic epilepsy v0.1253 EXOSC3 Rebecca Foulger commented on gene: EXOSC3: PMID:25149867 (Halevy et al, 2014): Of the 4 patients, 1 patient had a single atonic seizure age 12 years.
Early onset or syndromic epilepsy v0.1253 EXOSC3 Rebecca Foulger commented on gene: EXOSC3
Early onset or syndromic epilepsy v0.1241 EXOSC3 Rebecca Foulger Mode of inheritance for gene: EXOSC3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1227 EXOSC3 Rebecca Foulger Phenotypes for gene: EXOSC3 were changed from to Pontocerebellar hypoplasia, type 1B, 614678
Early onset or syndromic epilepsy EXOSC3 Zornitza Stark reviewed gene: EXOSC3
Early onset or syndromic epilepsy EXOSC3 Sarah Leigh Added gene to panel