Neurofibromatosis Type 1

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

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

only small numbers of affected individuals have mutations in BRAF
Created: 14 Nov 2016, 9:32 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Noonan syndrome with multiple lentigines (LEOPARD syndrome), 151100

Publications

History Filter Activity

14 Nov 2016, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Panel finalised 14th November 2016

14 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

14 Nov 2016, Gel status: 3

Added New Source

Alice Gardham (Genomics England)

BRAF was added to Neurofibromatosis Type 1panel. Sources: Expert Review,Literature,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services

14 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

BRAF was created by agardham