BRAF

Red BRAF in Inherited non-medullary thyroid cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.7

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 1.59

Sources

• Expert Review Green
• Literature

Phenotypes

• Cardiofaciocutaneous syndrome

Green BRAF in Neurofibromatosis Type 1

Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.32

Sources

• Expert Review Green
• Expert Review
• Radboud University Medical Center, Nijmegen
• Emory Genetics Laboratory
• Literature
• Illumina TruGenome Clinical Sequencing Services

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 1.64

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 3: Childhood Tumours
Level 2: Tumour syndromes
Version 4.18
Latest signed off version: v4.0 (22 Mar 2023)

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

Version 3.11
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• NHS GMS
• Expert Review Green
• Expert review

Phenotypes

• Cardiofaciocutaneous syndrome, OMIM:115150
• cardiofaciocutaneous syndrome, MONDO:0015280

Green BRAF in Pigmentary skin disorders

Version 3.11
Latest signed off version: v3.0 (22 Mar 2023)

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 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 4.7
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

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 1.118

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

Version 2.47
Latest signed off version: v2.0 (30 Nov 2022)

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

Version 2.4
Latest signed off version: v2.0 (30 Nov 2022)

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 1.27

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 2.29
Latest signed off version: v2.2 (18 Feb 2020)

Sources

• Expert Review Amber
• NHS GMS

Phenotypes

• Cardiofaciocutaneous syndrome 115150
• Noonan syndrome 7 613706
• LEOPARD syndrome 3 613707

Green BRAF in Fetal anomalies

Version 3.155
Latest signed off version: v3.0 (22 Mar 2023)

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 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 4.179
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• Expert Review Green
• NHS GMS

Phenotypes

• cardiofaciocutaneous syndrome type 115150
• Noonan syndrome type 7 613706

Green BRAF in DDG2P

Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

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 1.477

Sources

• NHS GMS
• South West GLH
• Emory Genetics Laboratory

Phenotypes

• Cardiomyopathy

Green BRAF in Growth failure in early childhood

Version 3.88
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Green

Phenotypes

• Cardiofaciocutaneous syndrome, OMIM:115150
• LEOPARD syndrome 3, OMIM:613707
• Noonan syndrome 7, OMIM:613706

Green BRAF in Early onset or syndromic epilepsy

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.193
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

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 - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

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 1.81

Sources

• Expert Review Green
• Eligibility statement prior genetic testing
• Illumina TruGenome Clinical Sequencing Services
• Emory Genetics Laboratory
• 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 3.11
Latest signed off version: v3.0 (30 Nov 2022)

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

Version 3.46
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

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

Red BRAF in Hereditary neuropathy or pain disorder

Version 3.94
Latest signed off version: v3.24 (15 May 2023)

Sources

• NHS GMS
• South West GLH
• Emory Genetics Laboratory
• NHS GMS
• South West GLH

Phenotypes

• Cardiomyopathy

Green BRAF in Severe Paediatric Disorders

Version 1.184

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Cardiofaciocutaneous syndrome, 115150
• Noonan syndrome 7, 613706
• LEOPARD syndrome 3, 613707