| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital Myasthenia v1.9 | CHRNA1 | Zornitza Stark Tag treatable tag was added to gene: CHRNA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Myasthenia v0.27 | CHRNA1 | Zornitza Stark Marked gene: CHRNA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Myasthenia v0.27 | CHRNA1 | Zornitza Stark Gene: chrna1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Myasthenia v0.27 | CHRNA1 | Zornitza Stark Publications for gene: CHRNA1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Myasthenia v0.26 | CHRNA1 | Zornitza Stark reviewed gene: CHRNA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26910802, 10195214, 12588888, 15079006, 18806275, 7619526, 8872460, 9158151; Phenotypes: Myasthenic syndrome, congenital, 1A, slow-channel, MIM# 601462, Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Myasthenia v0.0 | CHRNA1 |
Bryony Thompson gene: CHRNA1 was added gene: CHRNA1 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: CHRNA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CHRNA1 were set to Myasthenic syndrome, congenital, 1B, fast-channel, 608930; Myasthenic syndrome, congenital, 1A, slow-channel, 601462 |
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