Mosaic brain disorders - deep sequencing
Gene: BRAFEnsemblGeneIds (GRCh38): ENSG00000157764
EnsemblGeneIds (GRCh37): ENSG00000157764
OMIM: 164757, Gene2Phenotype
BRAF is in 24 panels
3 reviews
Sarah Leigh (Genomics England Curator)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arina Puzriakova (Genomics England Curator)
Comment on list classification: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.Created: 31 May 2023, 3:20 p.m. | Last Modified: 31 May 2023, 3:20 p.m.
Panel Version: 0.123
Two individuals with focal cortical dysplasia (FCD) type III and IIIb, respectively, and a BRAF variant (c.T1799A:p.V600E) reported in PMID:36635388 - relatedness of cases is unclear but additional phenotypic information only available for one patient.
Another two cases also reported in PMID:36864519 with a somatic p.V600E BRAF variant. One patient had FCD type I while the other had FCD type IIIb (ganglioglioma).
A different BRAF variant (p.I61V) was also found in an individual with FCD type IIa (PMID:36226386).
BRAF has most frequently been implicated in low-grade epilepsy-associated tumours (PMID:32151273; 35687047; 36226386) rather than isolated FCD and it should be noted that epilepsy caused by malignant tumours is out of scope for this panel. FCD Type IIIb associated with tumours was reported in 2/5 cases described above, suggesting borderline suitability of BRAF for R429. However, there is evidence indicating that inclusion could be of benefit to some patients and therefore rating as Green to minimise risk of missed diagnoses.Created: 31 May 2023, 3:19 p.m. | Last Modified: 31 May 2023, 3:19 p.m.
Panel Version: 0.122
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
FCD type 1, FCDIII
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
-
- NHS GMS
- Expert Review Green
- Expert list
- Phenotypes
-
- Focal cortical dysplasia
- Tags
- 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
-
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Multiple monogenic benign skin tumours
- Primary lymphoedema
- Cytopenias and congenital anaemias
- Monogenic short stature
- Neurofibromatosis Type 1
- Fetal hydrops
- Childhood solid tumours
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Pigmentary skin disorders
- Hereditary neuropathy or pain disorder
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Early onset or syndromic epilepsy
- Hypertrophic cardiomyopathy
- Mosaic skin disorders - deep sequencing
- Inherited non-medullary thyroid cancer
- Fetal anomalies
- DDG2P
- Pituitary hormone deficiency
- Hereditary neuropathy
- Childhood solid tumours cancer susceptibility
History Filter Activity
Added New Source
Sarah Leigh (Genomics England Curator)Source NHS GMS was added to BRAF.
Added Tag
Arina Puzriakova (Genomics England Curator)Tag somatic tag was added to gene: BRAF.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: BRAF were changed from 36635388; 36864519; 36226386 to Focal cortical dysplasia
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: BRAF were set to
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: BRAF were changed from to 36635388; 36864519; 36226386
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: braf has been classified as Green List (High Evidence).
Set mode of pathogenicity
Arina Puzriakova (Genomics England Curator)Mode of pathogenicity for gene: BRAF was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Created, Added New Source, Set mode of inheritance
Arina Puzriakova (Genomics England Curator)gene: BRAF was added gene: BRAF was added to Mosaic brain disorders - deep sequencing. Sources: Expert list Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted