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| Congenital Myasthenia v0.34 | SLC18A3 | Zornitza Stark Marked gene: SLC18A3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Myasthenia v0.34 | SLC18A3 | Zornitza Stark Gene: slc18a3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Myasthenia v0.34 | SLC18A3 | Zornitza Stark Publications for gene: SLC18A3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Myasthenia v0.33 | SLC18A3 | Zornitza Stark reviewed gene: SLC18A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27590285, 20123977, 28188302, 31059209; Phenotypes: Myasthenic syndrome, congenital, 21, presynaptic, MIM#617239; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Myasthenia v0.0 | SLC18A3 |
Bryony Thompson gene: SLC18A3 was added gene: SLC18A3 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: SLC18A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC18A3 were set to ophthalmopleggia and apnea; Myasthenic syndrome, congenital, 21, presynaptic, 617239 |
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