| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Craniosynostosis v0.156 | FBN1 | Zornitza Stark Marked gene: FBN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.156 | FBN1 | Zornitza Stark Gene: fbn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.138 | FBN1 | Bryony Thompson Classified gene: FBN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.138 | FBN1 | Bryony Thompson Gene: fbn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.137 | FBN1 |
Bryony Thompson gene: FBN1 was added gene: FBN1 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FBN1 were set to 8563763; 16596670; 24039054; 27884935 Phenotypes for gene: FBN1 were set to Shprintzen-Goldberg syndrome; Marfan syndrome MIM#154700 Review for gene: FBN1 was set to GREEN Added comment: At least 5 unrelated cases have been reported, usually de novo with craniosynostosis (coronoal and sagittal) as a feature of the condition. Sources: Literature |
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