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Early onset or syndromic epilepsy v1.191 TSEN34 Rebecca Foulger Source Wessex and West Midlands GLH was added to TSEN34.
Early onset or syndromic epilepsy v1.190 TSEN34 Rebecca Foulger Source NHS GMS was added to TSEN34.
Early onset or syndromic epilepsy v1.189 TSEN34 Rebecca Foulger edited their review of gene: TSEN34: 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: Alison Callaway and John Taylor. Suggested gene rating: Amber. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.188 TSEN34 Tracy Lester reviewed gene: TSEN34: Rating: AMBER; Mode of pathogenicity: ; Publications: 18711368; Phenotypes: ?Pontocerebellar hypoplasia type 2C, 612390; Mode of inheritance: Unknown
Early onset or syndromic epilepsy v0.623 TSEN34 Rebecca Foulger Marked gene: TSEN34 as ready
Early onset or syndromic epilepsy v0.623 TSEN34 Rebecca Foulger Gene: tsen34 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.623 TSEN34 Rebecca Foulger commented on gene: TSEN34: Added 'watchlist' tag for alerts on additional cases.
Early onset or syndromic epilepsy v0.623 TSEN34 Rebecca Foulger Tag watchlist tag was added to gene: TSEN34.
Early onset or syndromic epilepsy v0.623 TSEN34 Rebecca Foulger Classified gene: TSEN34 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.623 TSEN34 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber. Probable DD-G2P gene for PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4. One PCH2 patient with seizures and TSEN34 variant reported in PMID:20952379 (probably the same patient as from PMID:18711368/Budde et al 2008).
Early onset or syndromic epilepsy v0.623 TSEN34 Rebecca Foulger Gene: tsen34 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.544 TSEN34 Rebecca Foulger commented on gene: TSEN34
Early onset or syndromic epilepsy v0.544 TSEN34 Rebecca Foulger Publications for gene: TSEN34 were set to 18711368
Early onset or syndromic epilepsy v0.543 TSEN34 Rebecca Foulger Mode of inheritance for gene: TSEN34 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.542 TSEN34 Rebecca Foulger Publications for gene: TSEN34 were set to
Early onset or syndromic epilepsy v0.541 TSEN34 Rebecca Foulger Phenotypes for gene: TSEN34 were changed from to ?Pontocerebellar hypoplasia type 2C, 612390
Early onset or syndromic epilepsy TSEN34 Zornitza Stark reviewed gene: TSEN34
Early onset or syndromic epilepsy TSEN34 Sarah Leigh Added gene to panel