Epileptic encephalopathy Victorian Clinical Genetics Services
Gene: BRAFEnsemblGeneIds (GRCh38): ENSG00000157764
EnsemblGeneIds (GRCh37): ENSG00000157764
OMIM: 164757, Gene2Phenotype
BRAF is in 24 panels
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 164757
- Clinvar variants
- Variants in BRAF
- Penetrance
- None
- Panels with this gene
-
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Multiple monogenic benign skin tumours
- Primary lymphoedema
- Cytopenias and congenital anaemias
- Monogenic short stature
- Neurofibromatosis Type 1
- Fetal hydrops
- Childhood solid tumours
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Pigmentary skin disorders
- Hereditary neuropathy or pain disorder
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Early onset or syndromic epilepsy
- Hypertrophic cardiomyopathy
- Mosaic skin disorders - deep sequencing
- Inherited non-medullary thyroid cancer
- Fetal anomalies
- DDG2P
- Pituitary hormone deficiency
- Hereditary neuropathy
- Childhood solid tumours cancer susceptibility
History Filter Activity
Added New Source
Sarah Leigh (Genomics England Curator)BRAF was added to Epileptic encephalopathy Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
Created
Sarah Leigh (Genomics England Curator)BRAF was created by Sarah Leigh