This Panel is marked as Retired
Multiple Tumours
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
Ellen McDonagh (Genomics England Curator)
Gene is green on the Neurofibromatosis Type 1 version 1.12 gene panel.Created: 3 May 2017, 12:07 p.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 Amber
- Other
- Phenotypes
-
- Noonan syndrome with multiple lentigines (LEOPARD syndrome), 151100
- OMIM
- 164757
- Clinvar variants
- Variants in BRAF
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Multiple monogenic benign skin tumours
- Primary lymphoedema
- Intellectual disability
- Monogenic short stature
- Neurofibromatosis Type 1
- Fetal hydrops
- Childhood solid tumours
- Paediatric or syndromic cardiomyopathy
- Pigmentary skin disorders
- Hereditary neuropathy or pain disorder
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Hypertrophic cardiomyopathy
- Mosaic skin disorders - deep sequencing
- Inherited non-medullary thyroid cancer
- DDG2P
- Pituitary hormone deficiency
- Early onset or syndromic epilepsy
- Hereditary neuropathy
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
History Filter Activity
3 May 2017, Gel status: 2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
3 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)BRAF was created by ellenmcdonagh
3 May 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)BRAF was added to Multiple Tumourspanel. Sources: Other