Activity

Filter

Cancel
Date Panel Item Activity
13 actions
Congenital myaesthenic syndrome v2.23 DPAGT1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Congenital disorder of glycosylation, type Ij, 608093;Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750;Limb girdle congenital myasthenic;tubular aggregates;congenital disorder of glycosylation type Ij (CDG-IJ)
Congenital myaesthenic syndrome v2.23 DPAGT1 Ivone Leong Phenotypes for gene: DPAGT1 were changed from Congenital disorder of glycosylation, type Ij, 608093; Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750; Limb girdle congenital myasthenic; tubular aggregates; congenital disorder of glycosylation type Ij (CDG-IJ) to Myasthenic syndrome, congenital, 13, with tubular aggregates, OMIM:614750
Congenital myaesthenic syndrome v1.34 DPAGT1 Louise Daugherty reviewed gene: DPAGT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.14 DPAGT1 Michael Oldridge reviewed gene: DPAGT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ij, 608093, Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750, Limb girdle congenital myasthenic, tubular aggregates, congenital disorder of glycosylation type Ij (CDG-IJ); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.13 DPAGT1 Louise Daugherty Source NHS GMS was added to DPAGT1.
Congenital myaesthenic syndrome v1.12 DPAGT1 Louise Daugherty Source Wessex and West Midlands GLH was added to DPAGT1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myaesthenic syndrome DPAGT1 Rebecca Foulger marked DPAGT1 as ready
Congenital myaesthenic syndrome DPAGT1 Rebecca Foulger classified DPAGT1 as green
Congenital myaesthenic syndrome DPAGT1 Rebecca Foulger commented on DPAGT1
Congenital myaesthenic syndrome DPAGT1 Rebecca Foulger commented on DPAGT1
Congenital myaesthenic syndrome DPAGT1 Rebecca Foulger edited their review of DPAGT1
Congenital myaesthenic syndrome DPAGT1 Rebecca Foulger commented on DPAGT1
Congenital myaesthenic syndrome DPAGT1 David Beeson reviewed DPAGT1