| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital Myasthenia v1.9 | CHAT | Zornitza Stark Tag treatable tag was added to gene: CHAT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Myasthenia v0.26 | CHAT | Zornitza Stark Marked gene: CHAT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Myasthenia v0.26 | CHAT | Zornitza Stark Gene: chat has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Myasthenia v0.26 | CHAT | Zornitza Stark Publications for gene: CHAT were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Myasthenia v0.25 | CHAT | Zornitza Stark reviewed gene: CHAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 11172068, 12756141, 31192527, 29518833, 29189923; Phenotypes: Myasthenic syndrome, congenital, 6, presynaptic, MIM# 254210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Myasthenia v0.0 | CHAT |
Bryony Thompson gene: CHAT was added gene: CHAT was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: CHAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHAT were set to Congenital myasthenics syndrome associated with episodic apnea; Myasthenic syndrome, congenital, 6, presynaptic, 254210 |
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