Multiple monogenic benign skin tumours
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
1 review
Rebecca Foulger (Genomics England curator)
This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.Created: 19 Feb 2019, 7:43 p.m.
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: BRAF; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 29 Jan 2019, 10:38 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Removed
- London North GLH
- NHS GMS
- Phenotypes
-
- Melanocytic naevi
- Syringocystadenoma papilliferum
- Cardio-facio-cutaneous syndrome
- Tags
- OMIM
- 164757
- Clinvar variants
- Variants in BRAF
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- Early onset or syndromic epilepsy
- DDG2P
- Cytopenias and congenital anaemias
- Paediatric or syndromic cardiomyopathy
- Mosaic skin disorders - deep sequencing
- Pigmentary skin disorders
- Neurofibromatosis Type 1
- Fetal hydrops
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Pituitary hormone deficiency
- Hereditary neuropathy or pain disorder
- Hypertrophic cardiomyopathy
- Monogenic short stature
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Childhood solid tumours
- Inherited non-medullary thyroid cancer
- Hereditary neuropathy
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Primary lymphoedema
- Multiple monogenic benign skin tumours
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: BRAF.
19 Feb 2019, Gel status: 0
Added New Source, Status Update
Rebecca Foulger (Genomics England curator)Source Expert Review Removed was added to BRAF. Rating Changed from Green List (high evidence) to No List (delete)
18 Feb 2019, Gel status: 4
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to BRAF.
29 Jan 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: BRAF was added gene: BRAF was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BRAF were set to Melanocytic naevi; Syringocystadenoma papilliferum; Cardio-facio-cutaneous syndrome