Neurofibromatosis Type 1
Gene: BRAF
BRAF (B-Raf proto-oncogene, serine/threonine kinase)
EnsemblGeneIds (GRCh38): ENSG00000157764
EnsemblGeneIds (GRCh37): ENSG00000157764
OMIM: 164757, Gene2Phenotype
BRAF is in 24 panels
EnsemblGeneIds (GRCh38): ENSG00000157764
EnsemblGeneIds (GRCh37): ENSG00000157764
OMIM: 164757, Gene2Phenotype
BRAF is in 24 panels
1 review
Alice Gardham (Genomics England)
only small numbers of affected individuals have mutations in BRAFCreated: 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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Literature
- Expert Review
- Phenotypes
-
- Noonan syndrome with multiple lentigines (LEOPARD syndrome), 151100
- OMIM
- 164757
- Clinvar variants
- Variants in BRAF
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Intellectual disability
- Early onset or syndromic epilepsy
- DDG2P
- Cytopenias and congenital anaemias
- Paediatric or syndromic cardiomyopathy
- Mosaic skin disorders - deep sequencing
- Pigmentary skin disorders
- Neurofibromatosis Type 1
- Fetal hydrops
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Pituitary hormone deficiency
- Hereditary neuropathy or pain disorder
- Hypertrophic cardiomyopathy
- Monogenic short stature
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Childhood solid tumours
- Inherited non-medullary thyroid cancer
- Hereditary neuropathy
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Primary lymphoedema
- Multiple monogenic benign skin tumours
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