Cytopenias and congenital anaemias
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
Ellen McDonagh (Genomics England Curator)
Could not find evidence for involvement of cytopaenias/congenital anaemias in the Rasopathies. Somatic mutations associated with multiple different cancers on the COSMIC gene census list.Created: 1 Mar 2017, 3:48 p.m.
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
-
- Expert Review Red
- BRIDGE consortium (NIHRBR-RD)
- Phenotypes
-
- Rasopathies
- Leukaemia
- Lymphoma
- Hairy cell leukemia (HCL)
- Tags
- OMIM
- 164757
- Clinvar variants
- Variants in BRAF
- Penetrance
- Complete
- Panels with this gene
-
- DDG2P
- Cytopenias and congenital anaemias
- Hereditary neuropathy or pain disorder
- Monogenic short stature
- Fetal anomalies
- Mosaic skin disorders - deep sequencing
- Neurofibromatosis Type 1
- Fetal hydrops
- Early onset or syndromic epilepsy
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Multiple monogenic benign skin tumours
- Paediatric or syndromic cardiomyopathy
- Hypertrophic cardiomyopathy
- Adult solid tumours cancer susceptibility
- RASopathies
- Pigmentary skin disorders
- IUGR and IGF abnormalities
- Childhood solid tumours
- Intellectual disability
- Inherited non-medullary thyroid cancer
- Hereditary neuropathy
- Pituitary hormone deficiency
- Childhood solid tumours cancer susceptibility
- Primary lymphoedema
History Filter Activity
11 Mar 2017, Gel status: 1
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
1 Mar 2017, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
17 Feb 2017, Gel status: 0
Created
Louise Daugherty (Genomics England Curator)BRAF was created by LouiseD
17 Feb 2017, Gel status: 0
Added New Source
Louise Daugherty (Genomics England Curator)BRAF was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)