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| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.117 | PPP1CB | Eleanor Williams Phenotypes for gene: PPP1CB were changed from to Noonan syndrome-like disorder with loose anagen hair 2 617506 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.116 | PPP1CB | Eleanor Williams Classified gene: PPP1CB as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.116 | PPP1CB | Eleanor Williams Added comment: Comment on list classification: Upgrading from red to amber. Amber rating agreed at the GMS musculoskeletal specialist test group Webex on 2019-05-13. A Noonan syndrome-related gene, but the group decided it should be Amber as there is a less well-evidenced association with craniosynostosis than other Noonan genes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.116 | PPP1CB | Eleanor Williams Gene: ppp1cb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.115 | PPP1CB |
Eleanor Williams gene: PPP1CB was added gene: PPP1CB was added to Craniosynostosis. Sources: Expert list Mode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Review for gene: PPP1CB was set to AMBER Added comment: Adding gene following GMS musculoskeletal specialist test group Webex on 2019-05-13. This is a known Noonan syndrome gene. Sources: Expert list |
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