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Congenital myaesthenic syndrome v2.11 ALG2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Congenital myasthenic syndromes;Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228;Congenital disorder of glycosylation CDG type Ii, 607906
Congenital myaesthenic syndrome v2.11 ALG2 Ivone Leong Phenotypes for gene: ALG2 were changed from Congenital myasthenic syndromes; Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228; Congenital disorder of glycosylation CDG type Ii, 607906 to Myasthenic syndrome, congenital, 14, with tubular aggregates, OMIM:616228
Congenital myaesthenic syndrome v1.54 ALG2 Louise Daugherty Classified gene: ALG2 as Green List (high evidence)
Congenital myaesthenic syndrome v1.54 ALG2 Louise Daugherty Added comment: Comment on list classification: Upgraded from Amber to Green. Appropriate phenotypes, sufficient cases (with functional work), and external review comment all support gene-disease association.
Congenital myaesthenic syndrome v1.54 ALG2 Louise Daugherty Gene: alg2 has been classified as Green List (High Evidence).
Congenital myaesthenic syndrome v1.34 ALG2 Louise Daugherty reviewed gene: ALG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.14 ALG2 Michael Oldridge reviewed gene: ALG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital myasthenic syndromes, Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228, Congenital disorder of glycosylation CDG type Ii, 607906; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.13 ALG2 Louise Daugherty Source NHS GMS was added to ALG2.
Congenital myaesthenic syndrome v1.12 ALG2 Louise Daugherty Source Wessex and West Midlands GLH was added to ALG2.
Congenital myaesthenic syndrome ALG2 Rebecca Foulger classified ALG2 as amber
Congenital myaesthenic syndrome ALG2 Rebecca Foulger commented on ALG2
Congenital myaesthenic syndrome ALG2 Rebecca Foulger commented on ALG2
Congenital myaesthenic syndrome ALG2 Rebecca Foulger edited their review of ALG2
Congenital myaesthenic syndrome ALG2 Rebecca Foulger commented on ALG2
Congenital myaesthenic syndrome ALG2 David Beeson reviewed ALG2