01 Jun 2021
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
01 Jun 2021
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
28 Nov 2019
Early onset or syndromic epilepsy v1.490
SLC6A1
Rebecca Foulger Phenotypes for gene: SLC6A1 were changed from to Myoclonic-atonic epilepsy, 616421
28 Nov 2019
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
25 Nov 2019
Early onset or syndromic epilepsy v1.461
SLC6A19
Rebecca Foulger Classified gene: SLC6A19 as Red List (low evidence)
25 Nov 2019
Early onset or syndromic epilepsy v1.461
SLC6A19
Rebecca Foulger Gene: slc6a19 has been classified as Red List (Low Evidence).
25 Nov 2019
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.
21 Nov 2019
Early onset or syndromic epilepsy v1.425
SLC6A19
Rebecca Foulger Phenotypes for gene: SLC6A19 were changed from to Hartnup disorder, 234500
21 Nov 2019
Early onset or syndromic epilepsy v1.424
SLC6A19
Rebecca Foulger Publications for gene: SLC6A19 were set to
21 Nov 2019
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.
06 Aug 2019
Early onset or syndromic epilepsy v1.191
SLC6A19
Rebecca Foulger Source Wessex and West Midlands GLH was added to SLC6A19.
06 Aug 2019
Early onset or syndromic epilepsy v1.191
SLC6A1
Rebecca Foulger Source Wessex and West Midlands GLH was added to SLC6A1.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
SLC6A19
Rebecca Foulger Source NHS GMS was added to SLC6A19.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
SLC6A1
Rebecca Foulger Source NHS GMS was added to SLC6A1.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
SLC6A19
Rebecca Foulger reviewed gene: SLC6A19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
Early onset or syndromic epilepsy v1.189
SLC6A1
Rebecca Foulger reviewed gene: SLC6A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
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
06 Aug 2019
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
04 Apr 2018
Early onset or syndromic epilepsy
SLC6A1
Sarah Leigh Added gene to panel