Hypertrophic cardiomyopathy
Gene: BRAF
BRAF (B-Raf proto-oncogene, serine/threonine kinase)
EnsemblGeneIds (GRCh38): ENSG00000157764
EnsemblGeneIds (GRCh37): ENSG00000157764
OMIM: 164757, Gene2Phenotype
BRAF is in 25 panels
EnsemblGeneIds (GRCh38): ENSG00000157764
EnsemblGeneIds (GRCh37): ENSG00000157764
OMIM: 164757, Gene2Phenotype
BRAF is in 25 panels
2 reviews
Rebecca Whittington (South West GLH)
Cardiofaciocutaneous syndrome (115150)Created: 25 Mar 2019, 4:30 p.m.
Rasopathy gene. HCM reported in Cardiofaciocutaneous syndrome and other heart defects in Leopard Syndrome.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- South West GLH
- Expert list
- Phenotypes
-
- syndromic HCM
- OMIM
- 164757
- Clinvar variants
- Variants in BRAF
- Penetrance
- Complete
- Panels with this gene
-
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Adult solid tumours cancer susceptibility
- Cytopenias and congenital anaemias
- Primary lymphoedema
- Pituitary hormone deficiency
- Pigmentary skin disorders
- Fetal hydrops
- Neurofibromatosis Type 1
- Hypertrophic cardiomyopathy
- Mosaic skin disorders - Deep sequencing
- Intellectual disability
- Paediatric or syndromic cardiomyopathy
- Hereditary neuropathy
- Early onset or syndromic epilepsy
- RASopathies
- IUGR and IGF abnormalities
- Childhood solid tumours
- Multiple monogenic benign skin tumours
- Inherited non-medullary thyroid cancer
- Hereditary neuropathy or pain disorder
- DDG2P
- Monogenic short stature
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
History Filter Activity
21 Feb 2019, Gel status: 1
Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to BRAF. Mode of inheritance for gene BRAF was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
13 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)BRAF was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list