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Early onset or syndromic epilepsy v2.355 TSEN15 Arina Puzriakova Phenotypes for gene: TSEN15 were changed from Pontocerebellar hypoplasia, type 2F, 617026; seizures to Pontocerebellar hypoplasia, type 2F, OMIM:617026
Early onset or syndromic epilepsy v1.191 TSEN15 Rebecca Foulger Source Wessex and West Midlands GLH was added to TSEN15.
Early onset or syndromic epilepsy v1.190 TSEN15 Rebecca Foulger Source NHS GMS was added to TSEN15.
Early onset or syndromic epilepsy v1.189 TSEN15 Rebecca Foulger edited their review of gene: TSEN15: 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 TSEN15 Tracy Lester reviewed gene: TSEN15: Rating: AMBER; Mode of pathogenicity: ; Publications: 25558065; Phenotypes: Pontocerebellar hypoplasia, type 2F, 617026; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.38 TSEN15 Rebecca Foulger Classified gene: TSEN15 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.38 TSEN15 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber: Although Zornitza correctly notes that seizures are amongst the phenotypes of MIM:617026, there are insufficient cases to support a Green rating: PMID:27392077 (Breuss et al., 2016) report three homozygous TSEN15 variants in four individuals from three families with ID and progressive microcephaly. Epilepsy is reported in 2 of the 4 cases (families I and II) only. Added 'watchlist' tag.
Early onset or syndromic epilepsy v1.38 TSEN15 Rebecca Foulger Gene: tsen15 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.37 TSEN15 Rebecca Foulger Phenotypes for gene: TSEN15 were changed from Pontocerebellar hypoplasia, type 2F 617026 to Pontocerebellar hypoplasia, type 2F, 617026; seizures
Early onset or syndromic epilepsy v0.528 TSEN2 Rebecca Foulger Added comment: Comment on phenotypes: Have updated phenotype to match OMIM. According to OMIM, MIM:617026 ( Pontocerebellar hypoplasia, type 2F) is caused by variants in TSEN15.
Early onset or syndromic epilepsy v0.474 TSEN15 Sarah Leigh Marked gene: TSEN15 as ready
Early onset or syndromic epilepsy v0.474 TSEN15 Sarah Leigh Gene: tsen15 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy TSEN15 Zornitza Stark reviewed gene: TSEN15
Early onset or syndromic epilepsy TSEN15 Sarah Leigh classified TSEN15 as Amber List (moderate evidence)
Early onset or syndromic epilepsy TSEN15 Sarah Leigh Added gene to panel