29 Jan 2021
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
16 Oct 2019
Congenital myaesthenic syndrome v1.61
MYO9A
Louise Daugherty edited their review of gene: MYO9A: Changed rating: GREEN
16 Oct 2019
Congenital myaesthenic syndrome v1.56
MYO9A
Louise Daugherty Publications for gene: MYO9A were set to 29462312; 27259756
16 Oct 2019
Congenital myaesthenic syndrome v1.55
MYO9A
Louise Daugherty Classified gene: MYO9A as Green List (high evidence)
16 Oct 2019
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.
16 Oct 2019
Congenital myaesthenic syndrome v1.55
MYO9A
Louise Daugherty Gene: myo9a has been classified as Green List (High Evidence).
30 Apr 2019
Congenital myaesthenic syndrome v1.34
MYO9A
Louise Daugherty reviewed gene: MYO9A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Apr 2019
Congenital myaesthenic syndrome v1.31
MYO9A
Louise Daugherty Publications for gene: MYO9A were set to 29462312
30 Apr 2019
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
29 Apr 2019
Congenital myaesthenic syndrome v1.21
MYO9A
Louise Daugherty Publications for gene MYO9A were changed from 27259756 to 29462312
29 Apr 2019
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
29 Apr 2019
Congenital myaesthenic syndrome v1.13
MYO9A
Louise Daugherty Source NHS GMS was added to MYO9A.
29 Apr 2019
Congenital myaesthenic syndrome v1.12
MYO9A
Louise Daugherty Source Wessex and West Midlands GLH was added to MYO9A.
28 Feb 2017
Congenital myaesthenic syndrome
MYO9A
Rebecca Foulger classified MYO9A as amber
27 Feb 2017
Congenital myaesthenic syndrome
MYO9A
Rebecca Foulger commented on MYO9A