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Early onset or syndromic epilepsy v1.460 SLC35A1 Rebecca Foulger Publications for gene: SLC35A1 were set to 23873973; 15576474; 28856833; 30115659
Early onset or syndromic epilepsy v1.459 SLC35A1 Rebecca Foulger Classified gene: SLC35A1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.459 SLC35A1 Rebecca Foulger Gene: slc35a1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.458 SLC35A1 Rebecca Foulger commented on gene: SLC35A1: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call 22nd November 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is insufficient evidence to rate this gene Green. Better tested through the metabolic panel. Demoted from Green to Amber.
Early onset or syndromic epilepsy v1.191 SLC35A1 Rebecca Foulger Source Wessex and West Midlands GLH was added to SLC35A1.
Early onset or syndromic epilepsy v1.190 SLC35A1 Rebecca Foulger Source NHS GMS was added to SLC35A1.
Early onset or syndromic epilepsy v1.189 SLC35A1 Rebecca Foulger edited their review of gene: SLC35A1: 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 SLC35A1 Tracy Lester reviewed gene: SLC35A1: Rating: AMBER; Mode of pathogenicity: ; Publications: 28856833; Phenotypes: Congenital disorder of glycosylation type IIf, 603585; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.19 SLC35A1 Rebecca Foulger commented on gene: SLC35A1: Removed watchlist tag after promotion of SLC35A1 to Green.
Early onset or syndromic epilepsy v1.19 SLC35A1 Rebecca Foulger Tag watchlist was removed from gene: SLC35A1.
Early onset or syndromic epilepsy v1.19 SLC35A1 Rebecca Foulger Classified gene: SLC35A1 as Green List (high evidence)
Early onset or syndromic epilepsy v1.19 SLC35A1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following clinical agreement from Helen Brittain: A recent PMID:30115659 paper (Kauskot et al. 2018) provides a third SLC35A1 case with a seizure phenotype (the first two cases coming from PMID:23873973 and PMID:28856833).
Early onset or syndromic epilepsy v1.19 SLC35A1 Rebecca Foulger Gene: slc35a1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.18 SLC35A1 Rebecca Foulger commented on gene: SLC35A1
Early onset or syndromic epilepsy v1.18 SLC35A1 Rebecca Foulger Phenotypes for gene: SLC35A1 were changed from Congenital disorder of glycosylation, type IIf 603585 to Congenital disorder of glycosylation, type IIf, 603585; seizures
Early onset or syndromic epilepsy v1.17 SLC35A1 Rebecca Foulger Publications for gene: SLC35A1 were set to 23873973; 15576474; 28856833
Early onset or syndromic epilepsy v0.474 SLC35A1 Sarah Leigh Marked gene: SLC35A1 as ready
Early onset or syndromic epilepsy v0.474 SLC35A1 Sarah Leigh Gene: slc35a1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.474 SLC35A1 Sarah Leigh Tag watchlist tag was added to gene: SLC35A1.
Early onset or syndromic epilepsy SLC35A1 Zornitza Stark reviewed gene: SLC35A1
Early onset or syndromic epilepsy SLC35A1 Sarah Leigh classified SLC35A1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy SLC35A1 Sarah Leigh Added gene to panel