| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Schwannomatosis v0.4 | SMARCB1 | Bryony Thompson Marked gene: SMARCB1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Schwannomatosis v0.4 | SMARCB1 | Bryony Thompson Gene: smarcb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Schwannomatosis v0.4 | SMARCB1 | Bryony Thompson Classified gene: SMARCB1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Schwannomatosis v0.4 | SMARCB1 | Bryony Thompson Gene: smarcb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Schwannomatosis v0.3 | SMARCB1 |
Bryony Thompson gene: SMARCB1 was added gene: SMARCB1 was added to Schwannomatosis. Sources: Expert list Mode of inheritance for gene: SMARCB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMARCB1 were set to 17357086; 18285426 Phenotypes for gene: SMARCB1 were set to {Schwannomatosis-1, susceptibility to} MIM#162091 Review for gene: SMARCB1 was set to GREEN Added comment: At least 8 cases/families with a monoallelic germline variant reported with schwannomatosis. Sources: Expert list |
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