BRAF

B-Raf proto-oncogene, serine/threonine kinase
OMIM: 164757, Gene2Phenotype

22 panels

Panel Reviews Mode of inheritance Details
22 panels

Red BRAF in Inherited non-medullary thyroid cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.4

review Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Familial Non-medullary Thyroid Cancer

Green BRAF in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.29

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cardiofaciocutaneous syndrome

Green BRAF in Neurofibromatosis Type 1

Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.26

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Noonan syndrome with multiple lentigines (LEOPARD syndrome), 151100

Green BRAF in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.16

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
Phenotypes
  • LEOPARD Syndrome
  • Noonan Syndrome
  • Cardiofaciocutaneous Syndrome
  • LEOPARD syndrome 3
  • Cardio-facio-cutaneous syndrome

Amber BRAF in Tumour predisposition - childhood onset

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 1.36

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
  • Expert List
Phenotypes
  • Noonan syndrome 7 613706
  • Cardiofaciocutaneous syndrome 115150
  • LEOPARD syndrome 3 613707

Green BRAF in Pigmentary skin disorders


Version 0.15

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Syringocystadenoma papilliferum
  • Cardio-facio-cutaneous syndrome
  • Melanocytic naevi

Red BRAF in Hypertrophic cardiomyopathy - teen and adult

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 1.77

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • Expert list
Phenotypes
  • syndromic HCM

Red BRAF in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.73

review Unknown
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Rasopathies
  • Leukaemia
  • Lymphoma
  • Hairy cell leukemia (HCL)
Tags
  • somatic

No list BRAF in Multiple monogenic benign skin tumours


Version 0.10

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Melanocytic naevi
  • Syringocystadenoma papilliferum
  • Cardio-facio-cutaneous syndrome

Green BRAF in Childhood solid tumours cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.5

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cardiofaciocutaneous syndrome

Amber BRAF in Adult solid tumours cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.7

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Cardiofaciocutaneous syndrome 115150
  • Noonan syndrome 7 613706
  • LEOPARD syndrome 3 613707

Green BRAF in Fetal anomalies


Version 0.344

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CARDIOFACIOCUTANEOUS SYNDROME
  • LEOPARD SYNDROME TYPE 3
  • NOONAN SYNDROME TYPE 7

Green BRAF in Craniosynostosis

Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 2.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • cardiofaciocutaneous syndrome type 115150
  • Noonan syndrome type 7 613706

Green BRAF in DDG2P


Version 1.137

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LEOPARD SYNDROME TYPE 3 613707
  • NOONAN SYNDROME TYPE 7 613706
  • CARDIOFACIOCUTANEOUS SYNDROME 115150

Red BRAF in Hereditary neuropathy

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.334

review Not set
Sources
  • NHS GMS
  • South West GLH
  • Emory Genetics Laboratory
Phenotypes
  • Cardiomyopathy

Green BRAF in Growth failure in early childhood


Version 1.3

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • LEOPARD syndrome 3
  • LEOPARD Syndrome
  • Cardiofaciocutaneous syndrome
  • Cardiofaciocutaneous Syndrome
  • Cardio-facio-cutaneous syndrome
  • Noonan Syndrome

Green BRAF in Genetic epilepsy syndromes

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 1.365

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiofaciocutaneous syndrome 115150
  • Noonan syndrome 7 613706
  • LEOPARD syndrome 3 613707

Green BRAF in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.1066

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Melanoma, malignant, somaticColorectal cancer, somaticAdenocarcinoma of lung, somatic, 211980Nonsmall cell lung cancer, somaticCardiofaciocutaneous syndrome, 115150Noonan syndrome 7, 613706LEOPARD syndrome 3, 613707
  • NOONAN SYNDROME TYPE 7 (NS7)

Green BRAF in RASopathies

Level 3: RASopathies
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.55

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • LEOPARD syndrome 3 613707
  • Cardiofaciocutaneous syndrome 115150
  • Noonan syndrome 7 613706

Green BRAF in Primary lymphoedema

Level 3: Lymphatic Disorders
Level 2: Cardiovascular disorders
Version 2.0

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • LEOPARD syndrome 3 613707
  • Noonan syndrome 7 613706
  • Cardiofaciocutaneous syndrome 115150

Green BRAF in Cardiomyopathies - including childhood onset


Version 0.13

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert List
  • South West GLH
  • London South GLH
  • Expert Review Green
Phenotypes
  • Noonan syndrome 7 613706
  • Cardio-facio-cutaneous syndrome
  • Cardiofaciocutaneous syndrome 115150
  • Noonan Syndrome
  • syndromic HCM
  • Cardiofaciocutaneous Syndrome
  • LEOPARD Syndrome
  • LEOPARD syndrome 3
  • LEOPARD syndrome 3 613707

Amber BRAF in Sudden cardiac death


Version 0.10

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • London South GLH
  • London South GLH
  • Expert Review Green
Phenotypes
  • Noonan Syndrome
  • syndromic HCM
  • LEOPARD syndrome 3
  • LEOPARD Syndrome
  • Cardio-facio-cutaneous syndrome
  • Cardiofaciocutaneous Syndrome