This Panel is marked as Internal
Undiagnosed neurocutaneous disorders
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
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Radboud University Medical Center, Nijmegen
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Phenotypes
-
- Noonan syndrome 7, 613706
- Noonan Syndrome
- LEOPARD Syndrome, 613707
- Cardiofaciocutaneous Syndrome, 115150
- Costello Syndrome, 218040
- Noonan-Like Syndrome with Loose Anagen Hair
- OMIM
- 164757
- Clinvar variants
- Variants in BRAF
- Penetrance
- Complete
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Hereditary neuropathy
- Multiple monogenic benign skin tumours
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- Pigmentary skin disorders
- Monogenic short stature
- Neurofibromatosis Type 1
- Fetal hydrops
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Hypertrophic cardiomyopathy
- Mosaic skin disorders - deep sequencing
- Paediatric or syndromic cardiomyopathy
- Inherited non-medullary thyroid cancer
- Fetal anomalies
- Pituitary hormone deficiency
- Hereditary neuropathy or pain disorder
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Primary lymphoedema
- Childhood solid tumours cancer susceptibility
History Filter Activity
23 May 2017, Gel status: 4
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for BRAF were set to Noonan syndrome 7, 613706; Noonan Syndrome; LEOPARD Syndrome, 613707; Cardiofaciocutaneous Syndrome, 115150; Costello Syndrome, 218040; Noonan-Like Syndrome with Loose Anagen Hair
10 Dec 2015, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)BRAF was added to Undiagnosed neurocutaneous disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
10 Dec 2015, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)BRAF was created by ellenmcdonagh