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
Noonan syndrome type 7 - 613706; cardiofaciocutaneous syndrome type - 115150
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.
Mode of inheritance for gene: BRAF was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: braf has been classified as Green List (High Evidence).
Added phenotypes cardiofaciocutaneous syndrome type 115150; Noonan syndrome type 7 613706 for gene: BRAF
Publications for gene: BRAF were set to
gene: BRAF was added gene: BRAF was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: BRAF was set to