Activity

Filter

Cancel
Date Panel Item Activity
15 actions
Congenital myaesthenic syndrome v2.35 SYT2 Ivone Leong Phenotypes for gene: SYT2 were changed from Myasthenic syndrome, congenital, 7, presynaptic, 616040 to Myasthenic syndrome, congenital, 7, presynaptic, OMIM:616040
Congenital myaesthenic syndrome v2.34 SYT2 Ivone Leong Publications for gene: SYT2 were set to 26519543; 25192047; 27472506 (Review); 30533528
Congenital myaesthenic syndrome v2.5 SYT2 Zornitza Stark reviewed gene: SYT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25192047, 32776697, 32250532, 30533528; Phenotypes: Myasthenic syndrome, congenital, 7, presynaptic, MIM# 616040; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.52 SYT2 Ivone Leong Classified gene: SYT2 as Green List (high evidence)
Congenital myaesthenic syndrome v1.52 SYT2 Ivone Leong Added comment: Comment on list classification: Promoted from red to green. PMID: 30533528 reported on a third unrelated case with a new variant in this gene. Therefore there is enough evidence to support a gene-disease association.
Congenital myaesthenic syndrome v1.52 SYT2 Ivone Leong Gene: syt2 has been classified as Green List (High Evidence).
Congenital myaesthenic syndrome v1.51 SYT2 Ivone Leong Publications for gene: SYT2 were set to 26519543; 25192047; 27472506 (Review)
Congenital myaesthenic syndrome v1.34 SYT2 Louise Daugherty reviewed gene: SYT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.32 SYT2 Louise Daugherty Publications for gene: SYT2 were set to 26519543
Congenital myaesthenic syndrome v1.21 SYT2 Louise Daugherty Publications for gene SYT2 were changed from 25192047; 27472506 (Review); 26519543 to 26519543
Congenital myaesthenic syndrome v1.14 SYT2 Michael Oldridge reviewed gene: SYT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26519543; Phenotypes: Myasthenic syndrome, congenital, 7, presynaptic, 616040; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital myaesthenic syndrome v1.13 SYT2 Louise Daugherty Source NHS GMS was added to SYT2.
Congenital myaesthenic syndrome v1.12 SYT2 Louise Daugherty Source Wessex and West Midlands GLH was added to SYT2.
Congenital myaesthenic syndrome SYT2 Rebecca Foulger classified SYT2 as red
Congenital myaesthenic syndrome SYT2 Rebecca Foulger commented on SYT2