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 AW aware of unpublished Oxford case.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.
Noonan-like syndrome with loose anagen hair- 607721
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.
Gene: shoc2 has been classified as Amber List (Moderate Evidence).
Publications for gene: SHOC2 were set to
Added phenotypes Noonan-like syndrome with loose anagen hair 607721 for gene: SHOC2
gene: SHOC2 was added gene: SHOC2 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: SHOC2 was set to