Hypertrophic cardiomyopathy
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
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
-
- Monogenic short stature
- Childhood solid tumours cancer susceptibility
- Intellectual disability
- Fetal anomalies
- 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 hydrops
- Neurofibromatosis Type 1
- Hypertrophic cardiomyopathy
- Mosaic skin disorders - Deep sequencing
- Hereditary neuropathy or pain disorder
- Hereditary neuropathy
- RASopathies
- IUGR and IGF abnormalities
- Childhood solid tumours
- Multiple monogenic benign skin tumours
- Inherited non-medullary thyroid cancer
- DDG2P
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