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Congenital myaesthenic syndrome v2.8 MYO9A Arina Puzriakova Phenotypes for gene: MYO9A were changed from congenital myasthenic syndrome 24, presynaptic 618198; CMS to Myasthenic syndrome, congenital, 24, presynaptic, OMIM:618198; Myasthenic syndrome, congenital, 24, presynaptic, MONDO:0032597
Congenital myaesthenic syndrome v1.61 MYO9A Louise Daugherty edited their review of gene: MYO9A: Changed rating: GREEN
Congenital myaesthenic syndrome v1.56 MYO9A Louise Daugherty Publications for gene: MYO9A were set to 29462312; 27259756
Congenital myaesthenic syndrome v1.55 MYO9A Louise Daugherty Classified gene: MYO9A as Green List (high evidence)
Congenital myaesthenic syndrome v1.55 MYO9A 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 v1.55 MYO9A Louise Daugherty Gene: myo9a has been classified as Green List (High Evidence).
Congenital myaesthenic syndrome v1.34 MYO9A Louise Daugherty reviewed gene: MYO9A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myaesthenic syndrome v1.31 MYO9A Louise Daugherty Publications for gene: MYO9A were set to 29462312
Congenital myaesthenic syndrome v1.27 MYO9A Louise Daugherty Phenotypes for gene: MYO9A were changed from congenital myasthenic syndrome; CMS to congenital myasthenic syndrome 24, presynaptic 618198; CMS
Congenital myaesthenic syndrome v1.21 MYO9A Louise Daugherty Publications for gene MYO9A were changed from 27259756 to 29462312
Congenital myaesthenic syndrome v1.14 MYO9A Michael Oldridge reviewed gene: MYO9A: Rating: GREEN; Mode of pathogenicity: ; Publications: 29462312; Phenotypes: congenital myasthenic syndrome 24, presynaptic 618198, CMS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome v1.13 MYO9A Louise Daugherty Source NHS GMS was added to MYO9A.
Congenital myaesthenic syndrome v1.12 MYO9A Louise Daugherty Source Wessex and West Midlands GLH was added to MYO9A.
Congenital myaesthenic syndrome MYO9A Rebecca Foulger classified MYO9A as amber
Congenital myaesthenic syndrome MYO9A Rebecca Foulger commented on MYO9A