PanelApp (stage)
  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

Amber BRAF in Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.48

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Brain Malformations Flagship
    Phenotypes
    • RASopathies
    • Focal cortical dysplasia
    Tags
    • somatic

    Green BRAF in Autism


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.198

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green BRAF in Congenital Heart Defect


    Level 2: Cardiovascular disorders
    Version 0.418

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cardiofaciocutaneous syndrome, 115150
    • Noonan syndrome 7, 613706

    Green BRAF in Craniosynostosis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.68

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

    Green BRAF in Hydrops fetalis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.313

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cardiofaciocutaneous syndrome, MIM# 115150

    Green BRAF in Macrocephaly_Megalencephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.140

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green BRAF in Mendeliome


    Version 1.1891

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Noonan syndrome 7, MIM# 613706
    • Cardiofaciocutaneous syndrome, MIM# 115150

    Green BRAF in Cancer Predisposition_Paediatric


    Level 2: Cancer
    Version 0.131

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green BRAF in Rasopathy


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.105

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Noonan syndrome 7, MIM# 613706
    • Cardiofaciocutaneous syndrome, MIM# 115150

    Green BRAF in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Cardiofaciocutaneous syndrome, MIM# 115150

    Green BRAF in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.522

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green BRAF in Deafness_IsolatedAndComplex


    Level 2: Hearing and ear disorders
    Version 1.194

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Noonan Syndrome with Multiple Lentigines, OMIM # 613707

    Green BRAF in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Cardiofaciocutaneous syndrome (MIM# 115150)
    • Noonan syndrome (MIM# 613706)
    • LEOPARD syndrome (MIM# 613707)

    Red BRAF in Vascular Malformations_Germline


    Level 2: Cardiovascular disorders
    Version 1.11

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  review Other
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Sporadic vascular malformations
    Tags
    • somatic

    Red BRAF in TCGA_PANCAN_2018


    Version 0.2

    		review Other
    Sources
    • TCGA_PANCAN_2018
    Phenotypes
    • Noonan syndrome 7
    • LEOPARD syndrome 3

    Green BRAF in Lymphoedema_syndromic

    Level 3: Lymphatic Disorders
    Level 2: Cardiovascular disorders
    Version 0.12

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

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

    Green BRAF in Vascular Malformations_Somatic


    Level 2: Cardiovascular disorders
    Version 1.13

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  review Other
    Sources
    • Expert Review Green
    • Expert list
    • Expert list
    Phenotypes
    • Sporadic vascular malformations
    Tags
    • somatic

    Green BRAF in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.192

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • South West GLH
    • NHS GMS
    • Expert List
    • London South GLH
    Phenotypes
    • Noonan syndrome 7 613706
    • Cardiofaciocutaneous syndrome 115150
    • syndromic HCM

    Green BRAF in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • BabySeq Category C gene
    • BabySeq Category A gene
    Phenotypes
    • Noonan syndrome 7, MIM# 613706
    • Cardiofaciocutaneous syndrome, MIM# 115150

    Green BRAF in Incidentalome_PREGEN_DRAFT


    Version 0.43

    		review Unknown
    Sources
    • NSW Health Pathology
    • Expert Review Green

    Green BRAF in Mosaic skin disorders


    Level 2: Dermatological disorders
    Version 1.12

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Melanocytic naevus syndrome (MONDO:0044792
    • MIM#137550)

    Green BRAF in Growth failure


    Version 1.76

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Noonan syndrome 7, MIM# 613706
    • Cardiofaciocutaneous syndrome, MIM# 115150

    Green BRAF in Fetal anomalies


    Version 1.255

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Noonan syndrome 7, MIM# 613706
    • Cardiofaciocutaneous syndrome, MIM# 115150

    Red BRAF in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    • BabySeq Category A gene
    Phenotypes
    • Cardiofaciocutaneous syndrome, MIM# 115150
    • Noonan syndrome 7, MIM# 613706