IUGR and IGF abnormalities
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
Philip Murray (University of Manchester)
Peter Clayton (University of Manchester)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Cardiofaciocutaneous syndrome
- OMIM
- 164757
- Clinvar variants
- Variants in BRAF
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Pigmentary skin disorders
- Multiple monogenic benign skin tumours
- Primary lymphoedema
- Cytopenias and congenital anaemias
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Mosaic skin disorders - deep sequencing
- Neurofibromatosis Type 1
- Fetal hydrops
- Fetal anomalies
- Childhood solid tumours
- Monogenic short stature
- Adult solid tumours cancer susceptibility
- RASopathies
- Pituitary hormone deficiency
- IUGR and IGF abnormalities
- Hypertrophic cardiomyopathy
- DDG2P
- Inherited non-medullary thyroid cancer
- Hereditary neuropathy
- Early onset or syndromic epilepsy
- Childhood solid tumours cancer susceptibility
History Filter Activity
25 Apr 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
25 Apr 2016, Gel status: 4
Set Mode of Inheritance
emma baple (Genomics England Curator)Mode of inheritance for BRAF was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
25 Apr 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
22 Oct 2015, Gel status: 0
Added New Source
Peter Clayton (University of Manchester)BRAF was added to IUGR and IGF abnormalitiespanel. Sources: Literature
22 Oct 2015, Gel status: 0
Created
Peter Clayton (University of Manchester)BRAF was created by peter.clayton