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| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.114 | SHOC2 | Eleanor Williams Classified gene: SHOC2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.114 | SHOC2 | 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.114 | SHOC2 | Eleanor Williams Gene: shoc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.79 | SHOC2 | Eleanor Williams Added comment: Comment on publications: PMID: 25123707 - Takenouchi et al 2014 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.79 | SHOC2 | Eleanor Williams Publications for gene: SHOC2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 | SHOC2 | Eleanor Williams Added phenotypes Noonan-like syndrome with loose anagen hair 607721 for gene: SHOC2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.47 | SHOC2 | Tracy Lester reviewed gene: SHOC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Noonan-like syndrome with loose anagen hair- 607721; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.46 | SHOC2 | Eleanor Williams reviewed gene: SHOC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.45 | SHOC2 |
Eleanor Williams gene: SHOC2 was added gene: SHOC2 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: SHOC2 was set to |
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