Inherited non-medullary thyroid cancer
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
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least one variant reported in two patients.Created: 31 Jul 2017, 10:53 a.m.
Single variant identified in two members of one family (PMID 26530882).Created: 31 Jul 2017, 10:50 a.m.
Mode of inheritance
Unknown
Phenotypes
Familial Non-medullary Thyroid Cancer
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Familial Non-medullary Thyroid Cancer
- OMIM
- 164757
- Clinvar variants
- Variants in BRAF
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Intellectual disability
- Early onset or syndromic epilepsy
- DDG2P
- Cytopenias and congenital anaemias
- Paediatric or syndromic cardiomyopathy
- Mosaic skin disorders - deep sequencing
- Pigmentary skin disorders
- Neurofibromatosis Type 1
- Fetal hydrops
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Pituitary hormone deficiency
- Hereditary neuropathy or pain disorder
- Hypertrophic cardiomyopathy
- Monogenic short stature
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Childhood solid tumours
- Inherited non-medullary thyroid cancer
- Hereditary neuropathy
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Primary lymphoedema
- Multiple monogenic benign skin tumours
History Filter Activity
7 Aug 2017, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)All genes have been reviewed and the reviews evaluated. 07.08.2017
31 Jul 2017, Gel status: 1
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
21 Jun 2017, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)BRAF was created by sleigh
21 Jun 2017, Gel status: 0
Added New Source
Sarah Leigh (Genomics England Curator)BRAF was added to Inherited non-medullary thyroid cancerpanel. Sources: Literature