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Early onset or syndromic epilepsy v2.366 SLC6A1 Arina Puzriakova Publications for gene: SLC6A1 were set to 25865495; Carvill et al (2015) Am J Hum Genet 96(5): 808-15
Early onset or syndromic epilepsy v2.365 SLC6A1 Arina Puzriakova Phenotypes for gene: SLC6A1 were changed from Myoclonic-atonic epilepsy, 616421 to Myoclonic-atonic epilepsy, OMIM:616421
Early onset or syndromic epilepsy v1.490 SLC6A1 Rebecca Foulger Phenotypes for gene: SLC6A1 were changed from to Myoclonic-atonic epilepsy, 616421
Early onset or syndromic epilepsy v1.489 SLC6A1 Rebecca Foulger Publications for gene: SLC6A1 were set to Carvill et al (2015) Am J Hum Genet 96(5): 808-15
Early onset or syndromic epilepsy v1.461 SLC6A19 Rebecca Foulger Classified gene: SLC6A19 as Red List (low evidence)
Early onset or syndromic epilepsy v1.461 SLC6A19 Rebecca Foulger Gene: slc6a19 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v1.460 SLC6A19 Rebecca Foulger commented on gene: SLC6A19: 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. Epilepsy is not a key feature. Demoted from Green to Red.
Early onset or syndromic epilepsy v1.425 SLC6A19 Rebecca Foulger Phenotypes for gene: SLC6A19 were changed from to Hartnup disorder, 234500
Early onset or syndromic epilepsy v1.424 SLC6A19 Rebecca Foulger Publications for gene: SLC6A19 were set to
Early onset or syndromic epilepsy v1.423 SLC6A19 Rebecca Foulger commented on gene: SLC6A19: PMID:20399395 (Cheon et al 2010) report a Korean boy age 8 years and 5 months with Hartnup disorder. He had seizures, ADHD and mental retardation. Genetic analysis revealed novel compound het variants in SLC6A19: p.Thr596fsX73 and p.Ser303Leu.
Early onset or syndromic epilepsy v1.191 SLC6A19 Rebecca Foulger Source Wessex and West Midlands GLH was added to SLC6A19.
Early onset or syndromic epilepsy v1.191 SLC6A1 Rebecca Foulger Source Wessex and West Midlands GLH was added to SLC6A1.
Early onset or syndromic epilepsy v1.190 SLC6A19 Rebecca Foulger Source NHS GMS was added to SLC6A19.
Early onset or syndromic epilepsy v1.190 SLC6A1 Rebecca Foulger Source NHS GMS was added to SLC6A1.
Early onset or syndromic epilepsy v1.189 SLC6A19 Rebecca Foulger reviewed gene: SLC6A19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 SLC6A1 Rebecca Foulger reviewed gene: SLC6A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 SLC6A19 Tracy Lester reviewed gene: SLC6A19: Rating: AMBER; Mode of pathogenicity: ; Publications: 24596948 , 15592994; Phenotypes: Hartnup disorder,234500, Hyperglycinuria,138500, Iminoglycinuria, digenic,242600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 SLC6A1 Tracy Lester reviewed gene: SLC6A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25865495; Phenotypes: Myoclonic-atonic epilepsy, 616421; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy SLC6A1 Sarah Leigh Added gene to panel