Craniosynostosis

Gene: BRAF

Green List (high evidence)

BRAF (B-Raf proto-oncogene, serine/threonine kinase)
EnsemblGeneIds (GRCh38): ENSG00000157764
EnsemblGeneIds (GRCh37): ENSG00000157764
OMIM: 164757, Gene2Phenotype
BRAF is in 20 panels

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

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

Eleanor Williams (Genomics England Curator)

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.

History Filter Activity

21 May 2019, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: BRAF was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

21 May 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: braf has been classified as Green List (High Evidence).

11 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes cardiofaciocutaneous syndrome type 115150; Noonan syndrome type 7 613706 for gene: BRAF

2 May 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: BRAF were set to

5 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: BRAF was added gene: BRAF was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: BRAF was set to