Craniosynostosis
Gene: BRAFEnsemblGeneIds (GRCh38): ENSG00000157764
EnsemblGeneIds (GRCh37): ENSG00000157764
OMIM: 164757, Gene2Phenotype
BRAF is in 24 panels
1 review
Tiong Tan (Victorian Clinical Genetics Services)
Four unrelated individuals with CFC and craniosynostosis
Sources: LiteratureCreated: 16 Jun 2020, 12:13 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CFC
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- CFC
- OMIM
- 164757
- Clinvar variants
- Variants in BRAF
- Penetrance
- Complete
- 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
Entity classified by Genomics England curator
Tiong Tan (Victorian Clinical Genetics Services)Gene: braf has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Tiong Tan (Victorian Clinical Genetics Services)Gene: braf has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity
Tiong Tan (Victorian Clinical Genetics Services)gene: BRAF was added gene: BRAF was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BRAF were set to 28650561 Phenotypes for gene: BRAF were set to CFC Penetrance for gene: BRAF were set to Complete 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