Lymphoedema_syndromic
Gene: BRAF
BRAF (B-Raf proto-oncogene, serine/threonine kinase)
EnsemblGeneIds (GRCh38): ENSG00000157764
EnsemblGeneIds (GRCh37): ENSG00000157764
OMIM: 164757, Gene2Phenotype
BRAF is in 24 panels
EnsemblGeneIds (GRCh38): ENSG00000157764
EnsemblGeneIds (GRCh37): ENSG00000157764
OMIM: 164757, Gene2Phenotype
BRAF is in 24 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Cardiofaciocutaneous syndrome 115150
- Noonan syndrome 7 613706
- LEOPARD syndrome 3 613707
- 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
29 Jan 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Sue White (Victorian Clinical Genetics Services)gene: BRAF was added gene: BRAF was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BRAF were set to 21396583; 19206169 Phenotypes for gene: BRAF were set to Cardiofaciocutaneous syndrome 115150; Noonan syndrome 7 613706; LEOPARD syndrome 3 613707 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