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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
Craniosynostosis v0.68 TGFBR2 Tiong Tan Classified gene: TGFBR2 as Green List (high evidence)
Craniosynostosis v0.68 TGFBR2 Tiong Tan Gene: tgfbr2 has been classified as Green List (High Evidence).
Craniosynostosis v0.67 TGFBR2 Tiong Tan Classified gene: TGFBR2 as Green List (high evidence)
Craniosynostosis v0.67 TGFBR2 Tiong Tan Gene: tgfbr2 has been classified as Green List (High Evidence).
Craniosynostosis v0.66 TGFBR2 Tiong Tan Marked gene: TGFBR2 as ready
Craniosynostosis v0.66 TGFBR2 Tiong Tan Gene: tgfbr2 has been classified as Red List (Low Evidence).
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
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