Vascular Malformations_Germline
Gene: BRAF
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
Gene: braf has been classified as Red List (Low Evidence).
Gene: braf has been classified as Red List (Low Evidence).
Gene: braf has been classified as Amber List (Moderate Evidence).
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