Childhood solid tumours
Gene: BRAFEnsemblGeneIds (GRCh38): ENSG00000157764
EnsemblGeneIds (GRCh37): ENSG00000157764
OMIM: 164757, Gene2Phenotype
BRAF is in 25 panels
3 reviews
Ivone Leong (Genomics England Curator)
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that RASopathy associated genes associated with cancer will be included in this panel; however, there it is unclear whether this gene predisposes patients to cancer so therefore this has been rated amber.Created: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)
Unclear predisposition to cancer.Created: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
Publications
Lara Hawkes (Genomics England)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardiofaciocutaneous syndrome
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- NHS GMS
- Expert List
- Phenotypes
-
- Noonan syndrome 7 613706
- Cardiofaciocutaneous syndrome 115150
- LEOPARD syndrome 3 613707
- OMIM
- 164757
- Clinvar variants
- Variants in BRAF
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Intellectual disability
- Pigmentary skin disorders
- Adult solid tumours cancer susceptibility
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Paediatric or syndromic cardiomyopathy
- Cytopenias and congenital anaemias
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Primary lymphoedema
- Hereditary neuropathy or pain disorder
- Fetal hydrops
- Neurofibromatosis Type 1
- Hypertrophic cardiomyopathy
- Mosaic skin disorders - Deep sequencing
- Pituitary hormone deficiency
- Monogenic short stature
- Hereditary neuropathy
- Fetal anomalies
- RASopathies
- IUGR and IGF abnormalities
- Childhood solid tumours
- Early onset or syndromic epilepsy
- Multiple monogenic benign skin tumours
- Inherited non-medullary thyroid cancer
- DDG2P
History Filter Activity
Added New Source, Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to BRAF. Source Expert Review Amber was added to BRAF. Mode of inheritance for gene BRAF was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Cardiofaciocutaneous syndrome 115150; Noonan syndrome 7 613706; LEOPARD syndrome 3 613707 for gene: BRAF Publications for gene BRAF were changed from to 23875798 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: BRAF was added gene: BRAF was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: BRAF was set to