| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Craniosynostosis v1.4 | MASP1 | Zornitza Stark Phenotypes for gene: MASP1 were changed from 3MC syndrome to 3MC syndrome, MIM#257920 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.3 | MASP1 | Zornitza Stark reviewed gene: MASP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 3MC syndrome, MIM#257920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.126 | MASP1 | Zornitza Stark Marked gene: MASP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.126 | MASP1 | Zornitza Stark Gene: masp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.53 | MASP1 | Tiong Tan Classified gene: MASP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.53 | MASP1 | Tiong Tan Gene: masp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.52 | MASP1 |
Tiong Tan gene: MASP1 was added gene: MASP1 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: MASP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MASP1 were set to 7677137; 21258343 Phenotypes for gene: MASP1 were set to 3MC syndrome Penetrance for gene: MASP1 were set to Complete Review for gene: MASP1 was set to GREEN Added comment: Craniosynostosis occurs in 20-30% of individuals with 3MC syndrome Sources: Literature |
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