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Congenital myaesthenic syndrome v2.36 VAMP1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Congenital myasthenic syndrome; presynaptic CMS
Congenital myaesthenic syndrome v2.36 VAMP1 Ivone Leong Phenotypes for gene: VAMP1 were changed from Congenital myasthenic syndrome; presynaptic CMS to Myasthenic syndrome, congenital, 25, OMIM:618323
Congenital myaesthenic syndrome v2.0 VAMP1 Louise Daugherty Tag watchlist was removed from gene: VAMP1.
Congenital myaesthenic syndrome v2.0 VAMP1 Louise Daugherty commented on gene: VAMP1: As a result of watchlist tag audit the watchlist tag was removed from VAMP1- this is now a green gene.
Congenital myaesthenic syndrome v1.61 VAMP1 Louise Daugherty edited their review of gene: VAMP1: Changed rating: GREEN
Congenital myaesthenic syndrome v1.61 VAMP1 Louise Daugherty Classified gene: VAMP1 as Green List (high evidence)
Congenital myaesthenic syndrome v1.61 VAMP1 Louise Daugherty Added comment: Comment on list classification: Upgraded from Amber to Green. Appropriate phenotypes, sufficient cases (new publication PMID: 28168212) plus animal model and external review comment all support gene-disease association.
Congenital myaesthenic syndrome v1.61 VAMP1 Louise Daugherty Gene: vamp1 has been classified as Green List (High Evidence).
Congenital myaesthenic syndrome v1.34 VAMP1 Louise Daugherty reviewed gene: VAMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.33 VAMP1 Louise Daugherty Publications for gene: VAMP1 were set to 28168212
Congenital myaesthenic syndrome v1.21 VAMP1 Louise Daugherty Publications for gene VAMP1 were changed from 28253535 to 28168212
Congenital myaesthenic syndrome v1.14 VAMP1 Michael Oldridge reviewed gene: VAMP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28168212; Phenotypes: Congenital myasthenic syndrome, presynaptic CMS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.13 VAMP1 Louise Daugherty Source NHS GMS was added to VAMP1.
Congenital myaesthenic syndrome v1.12 VAMP1 Louise Daugherty Source Wessex and West Midlands GLH was added to VAMP1.
Congenital myaesthenic syndrome VAMP1 Rebecca Foulger classified VAMP1 as amber
Congenital myaesthenic syndrome VAMP1 Rebecca Foulger added VAMP1 to panel
Congenital myaesthenic syndrome VAMP1 Rebecca Foulger reviewed VAMP1