Primary lymphoedema

Gene: BRAF

Green List (high evidence)

BRAF (B-Raf proto-oncogene, serine/threonine kinase)
EnsemblGeneIds (GRCh38): ENSG00000157764
EnsemblGeneIds (GRCh37): ENSG00000157764
OMIM: 164757, Gene2Phenotype
BRAF is in 22 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: Based on recommendation from Sahar Mansour (St George's Hospital, London).
Created: 27 Jun 2019, 3:40 p.m. | Last Modified: 27 Jun 2019, 3:40 p.m.
Panel Version: 1.47

Sahar Mansour (St George's Hospital, London)

Green List (high evidence)

Green gene from RASopathies (Version 1.55)(https://panelapp.genomicsengland.co.uk/panels/48/). Gain of function.
Created: 27 Jun 2019, 3:36 p.m. | Last Modified: 27 Jun 2019, 3:36 p.m.
Panel Version: 1.45

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
LEOPARD syndrome 3 613707; Cardiofaciocutaneous syndrome 115150; Noonan syndrome 7 613706

Publications

History Filter Activity

27 Jun 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: braf has been classified as Green List (High Evidence).

27 Jun 2019, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: BRAF were set to

27 Jun 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity

Sarah Leigh (Genomics England Curator)

gene: BRAF was added gene: BRAF was added to Primary lymphoedema. Sources: Expert Review Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: BRAF were set to LEOPARD syndrome 3 613707; Noonan syndrome 7 613706; Cardiofaciocutaneous syndrome 115150 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