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
-
- Cytopenias and congenital anaemias
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Multiple monogenic benign skin tumours
- Early onset or syndromic epilepsy
- Pigmentary skin disorders
- Monogenic short stature
- Neurofibromatosis Type 1
- Fetal hydrops
- Paediatric or syndromic cardiomyopathy
- Childhood solid tumours
- Intellectual disability
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Hypertrophic cardiomyopathy
- Primary lymphoedema
- Mosaic skin disorders - deep sequencing
- Inherited non-medullary thyroid cancer
- Hereditary neuropathy or pain disorder
- DDG2P
- Pituitary hormone deficiency
- Hereditary neuropathy
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
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