Activity

Filter

Cancel
Date Panel Item Activity
11 actions
Congenital myaesthenic syndrome v2.30 SCN4A Ivone Leong Phenotypes for gene: SCN4A were changed from Myasthenic syndrome, congenital, 16, 614198; Congenital Myasthenic Syndrome, Recessive; congenital myasthenic syndromes to Myasthenic syndrome, congenital, 16, OMIM:614198
Congenital myaesthenic syndrome v1.34 SCN4A Louise Daugherty reviewed gene: SCN4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.21 SCN4A Louise Daugherty Publications for gene SCN4A were changed from to http://dx.doi.org/10.1016/j.nmd.2015.06.091
Congenital myaesthenic syndrome v1.14 SCN4A Michael Oldridge reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: ; Publications: http://dx.doi.org/10.1016/j.nmd.2015.06.091; Phenotypes: Myasthenic syndrome, congenital, 16, 614198, Congenital Myasthenic Syndrome, Recessive, congenital myasthenic syndromes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.13 SCN4A Louise Daugherty Source NHS GMS was added to SCN4A.
Congenital myaesthenic syndrome v1.12 SCN4A Louise Daugherty Source Wessex and West Midlands GLH was added to SCN4A.
Congenital myaesthenic syndrome SCN4A Rebecca Foulger commented on SCN4A
Congenital myaesthenic syndrome SCN4A Rebecca Foulger commented on SCN4A
Congenital myaesthenic syndrome SCN4A Rebecca Foulger commented on SCN4A
Congenital myaesthenic syndrome SCN4A Rebecca Foulger commented on SCN4A
Congenital myaesthenic syndrome SCN4A Rebecca Foulger commented on SCN4A