This Panel is marked as Internal
Sudden cardiac death - previous panel
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)
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- London South GLH
- London South GLH
- Expert Review Green
- Phenotypes
-
- Noonan Syndrome
- syndromic HCM
- LEOPARD syndrome 3
- LEOPARD Syndrome
- Cardio-facio-cutaneous syndrome
- Cardiofaciocutaneous Syndrome
- OMIM
- 164757
- Clinvar variants
- Variants in BRAF
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
-
- DDG2P
- Cytopenias and congenital anaemias
- Paediatric or syndromic cardiomyopathy
- Pigmentary skin disorders
- Mosaic skin disorders - deep sequencing
- Fetal anomalies
- Neurofibromatosis Type 1
- Fetal hydrops
- Early onset or syndromic epilepsy
- 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
- Intellectual disability
- Childhood solid tumours
- Inherited non-medullary thyroid cancer
- Hereditary neuropathy
- Childhood solid tumours cancer susceptibility
- Primary lymphoedema
- Multiple monogenic benign skin tumours
History Filter Activity
9 Sep 2019, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Ivone Leong (Genomics England Curator)gene: BRAF was added gene: BRAF was added to Sudden cardiac death. Sources: London South GLH,Expert Review Amber Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BRAF were set to 21396583; 19206169 Phenotypes for gene: BRAF were set to Noonan Syndrome; syndromic HCM; LEOPARD syndrome 3; LEOPARD Syndrome; Cardio-facio-cutaneous syndrome; Cardiofaciocutaneous Syndrome Mode of pathogenicity for gene: BRAF was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments