Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Genetic Epilepsy v0.542 SLC35A1 Zornitza Stark Marked gene: SLC35A1 as ready
Genetic Epilepsy v0.542 SLC35A1 Zornitza Stark Gene: slc35a1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.542 SLC35A1 Zornitza Stark Classified gene: SLC35A1 as Amber List (moderate evidence)
Genetic Epilepsy v0.542 SLC35A1 Zornitza Stark Gene: slc35a1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.541 SLC35A1 Zornitza Stark gene: SLC35A1 was added
gene: SLC35A1 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: SLC35A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC35A1 were set to 28856833; 23873973; 11157507
Phenotypes for gene: SLC35A1 were set to Congenital disorder of glycosylation, type IIf, MIM# 603585
Review for gene: SLC35A1 was set to AMBER
Added comment: Three unrelated families reported, neurological presentation including seizures in two.
Sources: Expert Review