Vascular Malformations_Somatic
Gene: BRAFEnsemblGeneIds (GRCh38): ENSG00000157764
EnsemblGeneIds (GRCh37): ENSG00000157764
OMIM: 164757, Gene2Phenotype
BRAF is in 24 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Comment on list classification: Somatic activating mutations only are associated with vascular malformations.Created: 20 Jan 2020, 7:29 a.m. | Last Modified: 1 Jul 2020, 11:29 p.m.
Panel Version: 0.9
Somatic activating mutations in BRAF cause sporadic vascular malformations and have recently been identified in CNS arteriovenous malformations.
Sources: Expert listCreated: 20 Jan 2020, 7:27 a.m.
Mode of inheritance
Other
Phenotypes
Sporadic vascular malformations
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Green
- Expert list
- Expert list
- Phenotypes
-
- Sporadic vascular malformations
- Tags
- OMIM
- 164757
- Clinvar variants
- Variants in BRAF
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
-
- Rasopathy
- Deafness_IsolatedAndComplex
- Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly
- Cardiomyopathy_Paediatric
- Incidentalome_PREGEN_DRAFT
- Lymphoedema_syndromic
- BabyScreen+ newborn screening
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Cancer Predisposition_Paediatric
- Vascular Malformations_Germline
- Macrocephaly_Megalencephaly
- Craniosynostosis
- Vascular Malformations_Somatic
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Mosaic skin disorders
- Mendeliome
- Callosome
- Growth failure
- Cerebral Palsy
- Autism
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: braf has been classified as Green List (High Evidence).
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag somatic tag was added to gene: BRAF.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: BRAF was added gene: BRAF was added to Vascular Malformations_Somatic. Sources: Expert list,Expert Review Green Mode of inheritance for gene: BRAF was set to Other Publications for gene: BRAF were set to 29316280; 30544177; 29461977 Phenotypes for gene: BRAF were set to Sporadic vascular malformations Mode of pathogenicity for gene: BRAF was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments