| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Craniosynostosis v0.41 | FLNA | Tiong Tan Marked gene: FLNA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.41 | FLNA | Tiong Tan Gene: flna has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.41 | FLNA | Tiong Tan Classified gene: FLNA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.41 | FLNA | Tiong Tan Gene: flna has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.40 | FLNA |
Tiong Tan gene: FLNA was added gene: FLNA was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: FLNA were set to 25873011; 16835913; 21031081 Phenotypes for gene: FLNA were set to otopalatodigital spectrum Penetrance for gene: FLNA were set to Complete Mode of pathogenicity for gene: FLNA 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: FLNA was set to GREEN Added comment: LOF variants cause PVNH; GOF variants cause OPD spectrum. Craniosynostosis is a low frequency association with FLNA-related OPD spectrum. Six unrelated probands reported in three publications. Sources: Literature |
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