Rare syndromic craniosynostosis or isolated multisuture synostosis

Gene: SHOC2

I don't know

Single case described with CSS (Takenouchi et al 2014). Reported cases of Noonan due to recurrent variant. CSS case has the same variant, p.S2G. Other Noonan cases reported to have 'abnormal head shape', but CSS not specifically documented. AW aware of unpublished Oxford case. ; Review on behalf of Tracy Lester and Andrew Wilkie

Created: 5 Mar 2019, 11:33 a.m.

Phenotypes
Noonan-like syndrome with loose anagen hair- 607721

I don't know

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

Created: 21 May 2019, 1:02 p.m.

Comment on publications: PMID: 25123707 - Takenouchi et al 2014

Created: 14 May 2019, 11:53 a.m.

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: SHOC2; Suggested initial gene rating: amber

Created: 5 Mar 2019, 11:21 a.m.