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Congenital myaesthenic syndrome v4.1 COL13A1 Achchuthan Shanmugasundram reviewed gene: COL13A1: Rating: ; Mode of pathogenicity: None; Publications: 31449669; Phenotypes: ; Mode of inheritance: None
Congenital myaesthenic syndrome v4.1 COL13A1 Achchuthan Shanmugasundram Tag treatable tag was added to gene: COL13A1.
Congenital myaesthenic syndrome v2.20 COL13A1 Ivone Leong Phenotypes for gene: COL13A1 were changed from Congenital myasthenic syndrome type 19; Myasthenic syndrome, congenital, 19, 616720 to Myasthenic syndrome, congenital, 19, OMIM:616720
Congenital myaesthenic syndrome v1.42 COL13A1 Louise Daugherty Publications for gene: COL13A1 were set to PMID: 26626625
Congenital myaesthenic syndrome v1.34 COL13A1 Louise Daugherty reviewed gene: COL13A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.14 COL13A1 Michael Oldridge reviewed gene: COL13A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital myasthenic syndrome type 19, Myasthenic syndrome, congenital, 19, 616720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.13 COL13A1 Louise Daugherty Source NHS GMS was added to COL13A1.
Congenital myaesthenic syndrome v1.12 COL13A1 Louise Daugherty Source Wessex and West Midlands GLH was added to COL13A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myaesthenic syndrome COL13A1 Rebecca Foulger classified COL13A1 as green
Congenital myaesthenic syndrome COL13A1 Rebecca Foulger classified COL13A1 as amber
Congenital myaesthenic syndrome COL13A1 Rebecca Foulger commented on COL13A1
Congenital myaesthenic syndrome COL13A1 Rebecca Foulger commented on COL13A1
Congenital myaesthenic syndrome COL13A1 Rebecca Foulger edited their review of COL13A1
Congenital myaesthenic syndrome COL13A1 Rebecca Foulger commented on COL13A1
Congenital myaesthenic syndrome COL13A1 David Beeson added COL13A1 to panel
Congenital myaesthenic syndrome COL13A1 David Beeson reviewed COL13A1