Activity

Filter

Cancel
Date Panel Item Activity
12 actions
Congenital myaesthenic syndrome v2.31 SLC18A3 Ivone Leong Phenotypes for gene: SLC18A3 were changed from Congenital myasthenic syndrome; ophthalmopleggia and apnea; Myasthenic syndrome, congenital, 21, presynaptic, 617239 to Myasthenic syndrome, congenital, 21, presynaptic, OMIM:617239
Congenital myaesthenic syndrome v1.46 SLC18A3 Louise Daugherty Publications for gene: SLC18A3 were set to PMID: 27590285
Congenital myaesthenic syndrome v1.34 SLC18A3 Louise Daugherty reviewed gene: SLC18A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.14 SLC18A3 Michael Oldridge reviewed gene: SLC18A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital myasthenic syndrome, ophthalmopleggia and apnea, Myasthenic syndrome, congenital, 21, presynaptic, 617239; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.13 SLC18A3 Louise Daugherty Source NHS GMS was added to SLC18A3.
Congenital myaesthenic syndrome v1.12 SLC18A3 Louise Daugherty Source Wessex and West Midlands GLH was added to SLC18A3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myaesthenic syndrome SLC18A3 Rebecca Foulger classified SLC18A3 as green
Congenital myaesthenic syndrome SLC18A3 Rebecca Foulger commented on SLC18A3
Congenital myaesthenic syndrome SLC18A3 Rebecca Foulger commented on SLC18A3
Congenital myaesthenic syndrome SLC18A3 Rebecca Foulger commented on SLC18A3
Congenital myaesthenic syndrome SLC18A3 David Beeson added SLC18A3 to panel
Congenital myaesthenic syndrome SLC18A3 David Beeson reviewed SLC18A3