| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital Myasthenia v0.6 | PLEC | Zornitza Stark Marked gene: PLEC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Myasthenia v0.6 | PLEC | Zornitza Stark Gene: plec has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Myasthenia v0.6 | PLEC | Zornitza Stark Classified gene: PLEC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Myasthenia v0.6 | PLEC | Zornitza Stark Gene: plec has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Myasthenia v0.4 | PLEC |
Kunal Verma gene: PLEC was added gene: PLEC was added to Congenital Myaesthenic Syndrome_RMH. Sources: Expert list Mode of inheritance for gene: PLEC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLEC were set to 31509265; 21263134; 20624679 Phenotypes for gene: PLEC were set to epidermolysis bullosa; congenital myasthenic syndrome Review for gene: PLEC was set to GREEN Added comment: 5 patients from three independent families; all had EB, some additionally had muscular dystrophy. Sources: Expert list |
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