Vascular Malformations_Germline

Gene: BRAF

Red List (low evidence)

BRAF (B-Raf proto-oncogene, serine/threonine kinase)
EnsemblGeneIds (GRCh38): ENSG00000157764
EnsemblGeneIds (GRCh37): ENSG00000157764
OMIM: 164757, Gene2Phenotype
BRAF is in 24 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

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 list
Created: 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

History Filter Activity

2 Jun 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: braf has been classified as Red List (Low Evidence).

20 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: braf has been classified as Red List (Low Evidence).

20 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: braf has been classified as Amber List (Moderate Evidence).

20 Jan 2020, Gel status: 1

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