This Panel is marked as Internal
Anaemias and red cell disorders
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
1 review
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
Unknown
Phenotypes
Rasopathies; Leukaemia; Lymphoma; Hairy cell leukemia (HCL)
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Phenotypes
-
- Rasopathies
- Leukaemia
- Lymphoma
- Hairy cell leukemia (HCL)
- OMIM
- 164757
- Clinvar variants
- Variants in BRAF
- Penetrance
- Complete
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Hereditary neuropathy
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Multiple monogenic benign skin tumours
- DDG2P
- Fetal anomalies
- Pigmentary skin disorders
- Monogenic short stature
- Neurofibromatosis Type 1
- Fetal hydrops
- Early onset or syndromic epilepsy
- Childhood solid tumours
- Intellectual disability
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Hypertrophic cardiomyopathy
- Mosaic skin disorders - deep sequencing
- Paediatric or syndromic cardiomyopathy
- Inherited non-medullary thyroid cancer
- Pituitary hormone deficiency
- Hereditary neuropathy or pain disorder
- Primary lymphoedema
- Childhood solid tumours cancer susceptibility
History Filter Activity
16 Jan 2017, Gel status: 0
Approved Gene
Louise Daugherty (Genomics England Curator)This proposed gene was validated and added to this panel
16 Jan 2017, Gel status: 0
Created
BRIDGE consortium (NIHRBR-RD)BRAF was created by BRIDGE
16 Jan 2017, Gel status: 0
Added New Source
BRIDGE consortium (NIHRBR-RD)BRAF was added to Anaemias and red cell disorderspanel. Sources: BRIDGE consortium (NIHRBR-RD)