Rare syndromic craniosynostosis or isolated multisuture synostosis

Gene: BRAF

Green List (high evidence)

Ueda et al 2017 - describe 4 patients with mutations in BRAFand CSS. No truncating/fs reported. ; Review on behalf of Tracy Lester/Andrew Wilkie

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

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Noonan syndrome type 7 - 613706; cardiofaciocutaneous syndrome type - 115150

Publications

• Ueda et al 2017

I don't know

Comment on list classification: Upgrading from red to green. This gene causes Noonan syndrome and an an association with craniosynostosis is well documented. Green rating agreed at the GMS musculoskeletal specialist test group Webex on 2019-05-13.

Created: 21 May 2019, 10:03 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: BRAF; Suggested initial gene rating: green

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