Arina Puzriakova Phenotypes for gene: TSEN15 were changed from Pontocerebellar hypoplasia, type 2F, 617026; seizures to Pontocerebellar hypoplasia, type 2F, OMIM:617026
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
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.
Rebecca Foulger Phenotypes for gene: TSEN15 were changed from Pontocerebellar hypoplasia, type 2F 617026 to Pontocerebellar hypoplasia, type 2F, 617026; seizures
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.