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| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.47 | MSX2 | Tracy Lester reviewed gene: MSX2: 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: 8106171, 23949913, 23918290; Phenotypes: Craniosynostosis, type 2, 604757, Parietal foramina 1, 168500, Parietal foramina with cleidocranial dysplasia, 168550, Craniosynostosis, MSX2-related craniosynostosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.46 | MSX2 | Eleanor Williams reviewed gene: MSX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.45 | MSX2 |
Eleanor Williams Source NHS GMS was added to MSX2. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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