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| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.47 | TWIST1 | Tracy Lester reviewed gene: TWIST1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8988166, 8988167; Phenotypes: Saethre-Chotzen syndrome, 101400, Saethre-Chotzen syndrome with eyelid anomalies, 101400, Craniosynostosis, type 1, 123100, Robinow-Sorauf syndrome, 180750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.46 | TWIST1 | Eleanor Williams reviewed gene: TWIST1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.45 | TWIST1 |
Eleanor Williams Source NHS GMS was added to TWIST1. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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