Primary lymphoedema
Gene: BRAFEnsemblGeneIds (GRCh38): ENSG00000157764
EnsemblGeneIds (GRCh37): ENSG00000157764
OMIM: 164757, Gene2Phenotype
BRAF is in 24 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 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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- LEOPARD syndrome 3 613707
- Noonan syndrome 7 613706
- Cardiofaciocutaneous syndrome 115150
- 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
-
- Cytopenias and congenital anaemias
- Hereditary neuropathy
- Multiple monogenic benign skin tumours
- DDG2P
- Fetal anomalies
- Pigmentary skin disorders
- Monogenic short stature
- Neurofibromatosis Type 1
- Fetal hydrops
- Hereditary neuropathy or pain disorder
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Hypertrophic cardiomyopathy
- Mosaic skin disorders - deep sequencing
- Paediatric or syndromic cardiomyopathy
- Inherited non-medullary thyroid cancer
- Early onset or syndromic epilepsy
- Pituitary hormone deficiency
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Primary lymphoedema
- Childhood solid tumours cancer susceptibility
- Intellectual disability
History Filter Activity
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: braf has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: BRAF were set to
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