This Panel is marked as Internal
Paediatric or syndromic cardiomyopathy - 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
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- South West GLH
- 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
21 Feb 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: BRAF was added gene: BRAF was added to Paediatric or syndromic cardiomyopathy. Sources: South West GLH Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted