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| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 | TGFBR2 | Eleanor Williams Added phenotypes Loeys-Dietz syndrome 2 610168 for gene: TGFBR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.47 | TGFBR2 | Tracy Lester reviewed gene: TGFBR2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 15731757; Phenotypes: Loeys-Dietz syndrome 2 - 610168; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.46 | TGFBR2 | Eleanor Williams reviewed gene: TGFBR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.45 | TGFBR2 |
Eleanor Williams Source NHS GMS was added to TGFBR2. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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