BRAF

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

25 panels

Panel Reviews Mode of inheritance Details
25 panels

Amber BRAF in Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

2 reviews 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 1.0

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Amber BRAF in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cardiofaciocutaneous syndrome, MIM#115150

Green BRAF in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 1.0

1 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 2.0

1 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 1.0

1 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 1.0

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green BRAF in Mendeliome


Version 2.0

1 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 1.0

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green BRAF in Rasopathy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

1 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 2.0

1 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 1.0

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green BRAF in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 2.0

1 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 2.0

1 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 2.0

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

Green BRAF in Lymphoedema

Level 3: Lymphatic Disorders
Level 2: Cardiovascular disorders
Version 1.0

0 reviews 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 2.0

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

Green BRAF in Pituitary hormone deficiency

Level 3: Pituitary disorders
Level 2: Endocrine disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Cardiofaciocutaneous syndrome, MONDO:0015280

Green BRAF in Cardiomyopathy_Paediatric


Level 2: Cardiovascular disorders
Version 1.0

0 reviews 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 1.0

1 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 1.0

1 review Unknown
Sources
  • NSW Health Pathology
  • Expert Review Green

Green BRAF in Mosaic skin disorders


Level 2: Dermatological disorders
Version 2.0

2 reviews 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 2.0

1 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 2.0

1 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 Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 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