Mosaic skin disorders
Gene: BRAFEnsemblGeneIds (GRCh38): ENSG00000157764
EnsemblGeneIds (GRCh37): ENSG00000157764
OMIM: 164757, Gene2Phenotype
BRAF is in 24 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
Comment on list classification: Added from PanelApp UK Mosaic skin disorders panelCreated: 28 Apr 2023, 6:50 a.m. | Last Modified: 28 Apr 2023, 6:50 a.m.
Panel Version: 1.8
Sangavi Sivagnanasundram (Melbourne Health)
More than 3 unrelated cases with tissue specific mosaic variants.
7 cases with congenital melanocytic naevi (CMN) identified a BRAF missense mutation (p.V600E) from naevus biopsies.
Sanger sequencing of mutant BRAF (p.V600E) naevus cultured cells showed confirmed heterozygosity with an increase in somatic load compared to those extracted directly from whole tissue from CMN.
Expression of the BRAF variant protein in all naevus cells was identified using immunohistochemistry.
Sources: NHS GMSCreated: 5 Apr 2023, 2:18 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Melanocytic naevus syndrome (MONDO:0044792; MIM#137550)
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
- Phenotypes
-
- Melanocytic naevus syndrome (MONDO:0044792
- MIM#137550)
- 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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: braf has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: braf has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: braf has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Sangavi Sivagnanasundram (Melbourne Health)gene: BRAF was added gene: BRAF was added to Mosaic skin disorders. Sources: NHS GMS Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BRAF were set to 31111470 Phenotypes for gene: BRAF were set to Melanocytic naevus syndrome (MONDO:0044792; MIM#137550) 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