Activity
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| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 | CEP120 | Eleanor Williams Added phenotypes short rib thoracic dysplasia 13 +/- polydactyly; Joubert syndrome 31 for gene: CEP120 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.47 | CEP120 | Tracy Lester reviewed gene: CEP120: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Joubert syndrome 31, short rib thoracic dysplasia 13 +/- polydactyly; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.46 | CEP120 | Eleanor Williams reviewed gene: CEP120: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.45 | CEP120 |
Eleanor Williams gene: CEP120 was added gene: CEP120 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: CEP120 was set to |
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