1. Genes and Genomic Entities
  2. BRAF

BRAF

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

24 panels

Panel Reviews Mode of inheritance Details
24 panels
Red BRAF in Inherited non-medullary thyroid cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.8

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 1.70

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 1.33

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Literature
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
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 1.95

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 Childhood solid tumours


Level 2: Cancer susceptibility
Version 5.9
Latest signed off version: v5.0 (30 Apr 2025)

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 Pituitary hormone deficiency


Level 2: Endocrinology
Version 4.4
Latest signed off version: v4.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Expert review
Phenotypes
  • Cardiofaciocutaneous syndrome, OMIM:115150
  • cardiofaciocutaneous syndrome, MONDO:0015280
Green BRAF in Pigmentary skin disorders


Level 2: Dermatology
Version 4.13
Latest signed off version: v4.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Cardio-facio-cutaneous syndrome
  • Syringocystadenoma papilliferum
  • Melanocytic naevi
  • LPRD3, CARDIOFACIOCUTANEOUS SYNDROME 1
  • CFC1
  • LEOPARD SYNDROME 3
Red BRAF in Hypertrophic cardiomyopathy


Level 2: Cardiology
Version 5.29
Latest signed off version: v5.0 (30 Apr 2025)

Component of the following Super Panels:

  • Sudden unexplained death or survivors of a cardiac event
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  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 1.123

    		review Unknown
    Sources
    • Expert Review Red
    • BRIDGE consortium (NIHRBR-RD)
    Phenotypes
    • Rasopathies
    • Leukaemia
    • Lymphoma
    • Hairy cell leukemia (HCL)
    Tags
    • somatic
    Green BRAF in Mosaic skin disorders - deep sequencing


    Level 2: Dermatology
    Version 3.27
    Latest signed off version: v3.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Melanocytic naevus syndrome, OMIM:137550
    • Vascular malformations
    • Noonan syndrome 7 (MIM 613706)
    • LEOPARD syndrome 3 , OMIM:613707
    • Cardio-facio-cutaneous syndrome 1, OMIM:115150
    No list BRAF in Multiple monogenic benign skin tumours


    Level 2: Dermatology
    Version 2.5
    Latest signed off version: v2.0 (30 Nov 2022)

    		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
    Tags
    • curated_removed
    Green BRAF in Childhood solid tumours cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 1.30

    		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 2: Cancer susceptibility
    Version 2.35
    Latest signed off version: v2.2 (18 Feb 2020)

    		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


    Level 2: Fetal (including NIPD)
    Version 6.138
    Latest signed off version: v6.0 (30 Apr 2025)

    		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 Rare syndromic craniosynostosis or isolated multisuture synostosis


    Level 2: Musculoskeletal
    Version 6.3
    Latest signed off version: v6.0 (30 Apr 2025)

    		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 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  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 1.506

    		review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    Phenotypes
    • Cardiomyopathy
    Green BRAF in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.120
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  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 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  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 1.87

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


    Level 2: Cardiology
    Version 4.21
    Latest signed off version: v4.0 (30 Apr 2025)

    		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
    Amber BRAF in Paediatric or syndromic cardiomyopathy


    Level 2: Cardiology
    Version 7.96
    Latest signed off version: v7.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • NHS GMS
    • Expert List
    • South West GLH
    • London South GLH
    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
    Tags
    • Q1_26_promote_green
    • Q1_26_NHS_review
    Red BRAF in Hereditary neuropathy or pain disorder


    Level 2: Neurology
    Version 7.36
    Latest signed off version: v7.0 (30 Apr 2025)

    		review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    • NHS GMS
    • South West GLH
    Phenotypes
    • Cardiomyopathy
    Green BRAF in Monogenic short stature


    Level 2: Endocrinology
    Version 1.31
    Latest signed off version: v1.0 (7 Aug 2024)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • Cardiofaciocutaneous syndrome, OMIM:115150
    • LEOPARD syndrome 3, OMIM:613707
    • Noonan syndrome 7, OMIM:613706