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Rare syndromic craniosynostosis or isolated multisuture synostosis v4.168 | TWIST2 | Achchuthan Shanmugasundram Publications for gene: TWIST2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.167 | TWIST2 | Achchuthan Shanmugasundram Mode of inheritance for gene: TWIST2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.166 | TWIST2 | Achchuthan Shanmugasundram reviewed gene: TWIST2: Rating: RED; Mode of pathogenicity: None; Publications: 31292255, 36980886; Phenotypes: craniosynostosis, MONDO:0015469; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 | TWIST2 | Eleanor Williams Added phenotypes Focal facial dermal dysplasia 3, Setleis type; Barber-Say syndrome; Ablepharon-macrostomia syndrome for gene: TWIST2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.47 | TWIST2 | Tracy Lester reviewed gene: TWIST2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ablepharon-macrostomia syndrome, Barber-Say syndrome, Focal facial dermal dysplasia 3, Setleis type; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.46 | TWIST2 | Eleanor Williams reviewed gene: TWIST2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.45 | TWIST2 |
Eleanor Williams gene: TWIST2 was added gene: TWIST2 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: TWIST2 was set to |