Vascular Malformations_Germline
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. Not really suitable for a germline testing panel.Created: 20 Jan 2020, 7:29 a.m. | Last Modified: 20 Jan 2020, 7:29 a.m.
Panel Version: 0.8
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 Red
- 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 Red List (Low Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: braf has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: braf has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Bryony Thompson (Royal Melbourne Hospital)gene: BRAF was added gene: BRAF was added to Vascular Malformations_RMH. Sources: Expert list somatic tags were added to gene: BRAF. Mode of inheritance for gene: BRAF was set to Other Publications for gene: BRAF were set to 29316280; 29461977; 30544177 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 Review for gene: BRAF was set to GREEN