Pigmentary skin 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
2 reviews
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: BRAF; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 31 Jan 2019, 11:31 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Cardio-facio-cutaneous syndrome
- Syringocystadenoma papilliferum
- Melanocytic naevi
- LPRD3, CARDIOFACIOCUTANEOUS SYNDROME 1
- CFC1
- LEOPARD SYNDROME 3
- OMIM
- 164757
- Clinvar variants
- Variants in BRAF
- Penetrance
- None
- Publications
- 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
- Intellectual disability
- 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
- Inherited non-medullary thyroid cancer
- Hereditary neuropathy
- Pituitary hormone deficiency
- Childhood solid tumours cancer susceptibility
- Primary lymphoedema
History Filter Activity
12 Dec 2019, Gel status: 3
Set Phenotypes, Set publications
Catherine Snow (Genomics England)Added phenotypes CFC1; LEOPARD SYNDROME 3; LPRD3, CARDIOFACIOCUTANEOUS SYNDROME 1 for gene: BRAF Publications for gene BRAF were changed from to 16474404; 19206169
18 Feb 2019, Gel status: 4
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to BRAF.
31 Jan 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: BRAF was added gene: BRAF was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BRAF were set to Syringocystadenoma papilliferum; Cardio-facio-cutaneous syndrome; Melanocytic naevi