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Early onset or syndromic epilepsy v2.357 TSEN54 Arina Puzriakova Publications for gene: TSEN54 were set to 20956791; 7854532; 26701950; 20952379
Early onset or syndromic epilepsy v2.356 TSEN54 Arina Puzriakova Phenotypes for gene: TSEN54 were changed from Pontocerebellar hypoplasia type 4, 225753; Pontocerebellar hypoplasia type 2A, 277470; ?Pontocerebellar hypoplasia type 5, 610204 to ?Pontocerebellar hypoplasia type 5, OMIM:610204; Pontocerebellar hypoplasia type 2A, OMIM:277470; Pontocerebellar hypoplasia type 4, OMIM:225753
Early onset or syndromic epilepsy v1.191 TSEN54 Rebecca Foulger Source Wessex and West Midlands GLH was added to TSEN54.
Early onset or syndromic epilepsy v1.190 TSEN54 Rebecca Foulger Source NHS GMS was added to TSEN54.
Early onset or syndromic epilepsy v1.189 TSEN54 Rebecca Foulger edited their review of gene: TSEN54: 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 TSEN54 Tracy Lester reviewed gene: TSEN54: Rating: GREEN; Mode of pathogenicity: ; Publications: 20956791, 20952379 ; Phenotypes: ?Pontocerebellar hypoplasia type 5, 610204, Pontocerebellar hypoplasia type 2A, 277470, Pontocerebellar hypoplasia type 4, 225753; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.526 TSEN54 Rebecca Foulger Marked gene: TSEN54 as ready
Early onset or syndromic epilepsy v0.526 TSEN54 Rebecca Foulger Gene: tsen54 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.526 TSEN54 Rebecca Foulger Classified gene: TSEN54 as Green List (high evidence)
Early onset or syndromic epilepsy v0.526 TSEN54 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green. Seizures are a clinical phenotype of both MIM:277470 and MIM:225753. Sufficient (>3) cases of seizures in Pontocerebellar hypoplasia patients with TSEN54 variants for inclusion on panel (PMIDs 20956791,7854532,26701950,20952379).
Early onset or syndromic epilepsy v0.526 TSEN54 Rebecca Foulger Gene: tsen54 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.525 TSEN54 Rebecca Foulger Publications for gene: TSEN54 were set to 20956791,7854532,26701950,20952379
Early onset or syndromic epilepsy v0.524 TSEN54 Rebecca Foulger Publications for gene: TSEN54 were set to
Early onset or syndromic epilepsy v0.523 TSEN54 Rebecca Foulger Mode of inheritance for gene: TSEN54 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.522 TSEN54 Rebecca Foulger Phenotypes for gene: TSEN54 were changed from to Pontocerebellar hypoplasia type 4, 225753; Pontocerebellar hypoplasia type 2A, 277470; ?Pontocerebellar hypoplasia type 5, 610204
Early onset or syndromic epilepsy TSEN54 Zornitza Stark reviewed gene: TSEN54
Early onset or syndromic epilepsy TSEN54 Sarah Leigh Added gene to panel