01 Feb 2023
Congenital myaesthenic syndrome v3.5
SYT2
Mafalda Gomes Tag Q3_21_MOI was removed from gene: SYT2.
01 Feb 2023
Congenital myaesthenic syndrome v3.5
SYT2
Mafalda Gomes commented on gene: SYT2
01 Feb 2023
Congenital myaesthenic syndrome v3.4
SYT2
Mafalda Gomes Mode of inheritance for gene SYT2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
03 Aug 2021
Congenital myaesthenic syndrome v2.37
SYT2
Ivone Leong edited their review of gene: SYT2: Added comment: Based on the expert review by Zornitza Stark (Australian Genomics), the MOI should be changed from Monoallelic to Both monoallelic and biallelic. It should be noted that in OMIM, this gene has been given an AD MOI and in Gene2Phenotype, it has been given a biallelic MOI.; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
03 Aug 2021
Congenital myaesthenic syndrome v2.37
SYT2
Ivone Leong Tag Q3_21_MOI tag was added to gene: SYT2.
03 Aug 2021
Congenital myaesthenic syndrome v2.37
SYT2
Ivone Leong Publications for gene: SYT2 were set to 26519543; 25192047; 27472506; 30533528
22 Mar 2021
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
22 Mar 2021
Congenital myaesthenic syndrome v2.34
SYT2
Ivone Leong Publications for gene: SYT2 were set to 26519543; 25192047; 27472506 (Review); 30533528
02 Nov 2020
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
07 Aug 2019
Congenital myaesthenic syndrome v1.52
SYT2
Ivone Leong Classified gene: SYT2 as Green List (high evidence)
07 Aug 2019
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.
07 Aug 2019
Congenital myaesthenic syndrome v1.52
SYT2
Ivone Leong Gene: syt2 has been classified as Green List (High Evidence).
07 Aug 2019
Congenital myaesthenic syndrome v1.51
SYT2
Ivone Leong Publications for gene: SYT2 were set to 26519543; 25192047; 27472506 (Review)
30 Apr 2019
Congenital myaesthenic syndrome v1.34
SYT2
Louise Daugherty reviewed gene: SYT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Apr 2019
Congenital myaesthenic syndrome v1.32
SYT2
Louise Daugherty Publications for gene: SYT2 were set to 26519543
29 Apr 2019
Congenital myaesthenic syndrome v1.21
SYT2
Louise Daugherty Publications for gene SYT2 were changed from 25192047; 27472506 (Review); 26519543 to 26519543
29 Apr 2019
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
29 Apr 2019
Congenital myaesthenic syndrome v1.13
SYT2
Louise Daugherty Source NHS GMS was added to SYT2.
29 Apr 2019
Congenital myaesthenic syndrome v1.12
SYT2
Louise Daugherty Source Wessex and West Midlands GLH was added to SYT2.
02 Feb 2017
Congenital myaesthenic syndrome
SYT2
Rebecca Foulger classified SYT2 as red
02 Feb 2017
Congenital myaesthenic syndrome
SYT2
Rebecca Foulger commented on SYT2