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| Craniosynostosis v1.7 | SMAD6 | Zornitza Stark Phenotypes for gene: SMAD6 were changed from non-syndromic craniosynostosis to {Craniosynostosis 7, susceptibility to}, MIM# 617439 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.6 | SMAD6 | Zornitza Stark reviewed gene: SMAD6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Craniosynostosis 7, susceptibility to}, MIM# 617439; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.61 | SMAD6 | Tiong Tan Marked gene: SMAD6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.61 | SMAD6 | Tiong Tan Gene: smad6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.61 | SMAD6 | Tiong Tan Classified gene: SMAD6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.61 | SMAD6 | Tiong Tan Gene: smad6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.60 | SMAD6 |
Tiong Tan gene: SMAD6 was added gene: SMAD6 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: SMAD6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMAD6 were set to 32499606; 27606499 Phenotypes for gene: SMAD6 were set to non-syndromic craniosynostosis Penetrance for gene: SMAD6 were set to Incomplete Review for gene: SMAD6 was set to GREEN Added comment: Penetrance is 57%. A common polymorphism near BMP2 (rs1884302) was initially proposed to influence penetrance, but follow-up study did not corroborate this. In vitro luciferase assays suggest loss of SMAD6 inhibitory function. Sources: Literature |
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