| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital Myasthenia v0.3 | LAMB2 | Zornitza Stark Marked gene: LAMB2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Myasthenia v0.3 | LAMB2 | Zornitza Stark Gene: lamb2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Myasthenia v0.3 | LAMB2 | Zornitza Stark Phenotypes for gene: LAMB2 were changed from congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations to Pierson syndrome, MIM# 609049; congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Myasthenia v0.2 | LAMB2 | Zornitza Stark Publications for gene: LAMB2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Myasthenia v0.1 | LAMB2 | Zornitza Stark Classified gene: LAMB2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Myasthenia v0.1 | LAMB2 | Zornitza Stark Gene: lamb2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Myasthenia v0.0 | LAMB2 | Zornitza Stark reviewed gene: LAMB2: Rating: RED; Mode of pathogenicity: None; Publications: 19251977; Phenotypes: Pierson syndrome, MIM# 609049; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Myasthenia v0.0 | LAMB2 |
Bryony Thompson gene: LAMB2 was added gene: LAMB2 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LAMB2 were set to congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations |
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