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| Craniosynostosis v0.112 | SMAD3 | Zornitza Stark Phenotypes for gene: SMAD3 were changed from LOEYS-DIETZ SYNDROME to Loeys-Dietz syndrome 3, MIM# 613795 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.111 | SMAD3 | Zornitza Stark Publications for gene: SMAD3 were set to 20301312 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.110 | SMAD3 | Zornitza Stark reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29392890; Phenotypes: Loeys-Dietz syndrome 3, MIM# 613795; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.70 | SMAD3 | Tiong Tan Marked gene: SMAD3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.70 | SMAD3 | Tiong Tan Gene: smad3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.70 | SMAD3 | Tiong Tan Classified gene: SMAD3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.70 | SMAD3 | Tiong Tan Gene: smad3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.69 | SMAD3 |
Tiong Tan gene: SMAD3 was added gene: SMAD3 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: SMAD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMAD3 were set to 20301312 Phenotypes for gene: SMAD3 were set to LOEYS-DIETZ SYNDROME Penetrance for gene: SMAD3 were set to Complete Added comment: Craniosynostosis is a well-established feature of LDS - TGFBR1, TGFBR2 and SMAD3 Sources: Literature |
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| Craniosynostosis v0.66 | TGFBR2 |
Tiong Tan gene: TGFBR2 was added gene: TGFBR2 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TGFBR2 were set to 15731757 Phenotypes for gene: TGFBR2 were set to LOEYS-DIETZ SYNDROME Penetrance for gene: TGFBR2 were set to Complete Review for gene: TGFBR2 was set to GREEN Added comment: Craniosynostosis is a well-established feature of LDS - TGFBR1, TGFBR2 and SMAD3 Sources: Literature |
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| Craniosynostosis v0.64 | TGFBR1 |
Tiong Tan gene: TGFBR1 was added gene: TGFBR1 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TGFBR1 were set to 15731757 Phenotypes for gene: TGFBR1 were set to Loeys-Dietz syndrome Penetrance for gene: TGFBR1 were set to Complete Review for gene: TGFBR1 was set to GREEN Added comment: Craniosynostosis is a well-established feature of LDS - TGFBR1, TGFBR2 and SMAD3 Sources: Literature |
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