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| Craniosynostosis v0.51 | PTPN11 | Tiong Tan Marked gene: PTPN11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.51 | PTPN11 | Tiong Tan Gene: ptpn11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.51 | PTPN11 | Tiong Tan Classified gene: PTPN11 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.51 | PTPN11 | Tiong Tan Gene: ptpn11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.50 | PTPN11 |
Tiong Tan gene: PTPN11 was added gene: PTPN11 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PTPN11 were set to 28650561 Phenotypes for gene: PTPN11 were set to Noonan syndrome Penetrance for gene: PTPN11 were set to Complete Mode of pathogenicity for gene: PTPN11 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: PTPN11 was set to GREEN Added comment: Three unrelated individuals with PTPN11-related Noonan syndrome and craniosynostosis Sources: Literature |
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