| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 | SOX10 | Eleanor Williams Added phenotypes Hirschsprung disease; Waardenburg syndrome; Peripheral demyelinating neuropathy; central dysmyelination for gene: SOX10 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.47 | SOX10 | Tracy Lester reviewed gene: SOX10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, Hirschsprung disease; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.46 | SOX10 | Eleanor Williams reviewed gene: SOX10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.45 | SOX10 |
Eleanor Williams gene: SOX10 was added gene: SOX10 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: SOX10 was set to |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||