Hereditary neuropathy
Gene: BRAFEnsemblGeneIds (GRCh38): ENSG00000157764
EnsemblGeneIds (GRCh37): ENSG00000157764
OMIM: 164757, Gene2Phenotype
BRAF is in 24 panels
5 reviews
Louise Daugherty (Genomics England Curator)
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
Natalie Forrester (SWGLH - Bristol Genetics)
Unable to find any evidence of clear neuropathy association. Caution needed due to cancer associationsCreated: 29 Apr 2019, 12:30 p.m.
Phenotypes
Cardiomyopathy
Rita Horvath (Institute of Genetic Medicine, Newcastle University)
Alexander Rossor (UCL Institute of Neurology)
Not a CMT geneCreated: 9 Dec 2015, 8:49 a.m.
Mary Reilly (Institute of Neurology)
Not a CMT geneCreated: 8 Dec 2015, 3:05 p.m.
Details
- Sources
-
- NHS GMS
- South West GLH
- Emory Genetics Laboratory
- Phenotypes
-
- Cardiomyopathy
- OMIM
- 164757
- Clinvar variants
- Variants in BRAF
- Penetrance
- Complete
- Panels with this gene
-
- Monogenic short stature
- Childhood solid tumours cancer susceptibility
- Intellectual disability
- Early onset or syndromic epilepsy
- Adult solid tumours cancer susceptibility
- Pituitary hormone deficiency
- Paediatric or syndromic cardiomyopathy
- Pigmentary skin disorders
- Cytopenias and congenital anaemias
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Primary lymphoedema
- Fetal anomalies
- Fetal hydrops
- Neurofibromatosis Type 1
- Hypertrophic cardiomyopathy
- Mosaic skin disorders - Deep sequencing
- Hereditary neuropathy
- RASopathies
- IUGR and IGF abnormalities
- Hereditary neuropathy or pain disorder
- Childhood solid tumours
- Multiple monogenic benign skin tumours
- Inherited non-medullary thyroid cancer
- DDG2P
History Filter Activity
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Cardiomyopathy for gene: BRAF
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to BRAF.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to BRAF.
Added New Source
Ellen McDonagh (Genomics England Curator)BRAF was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory