BRAF

B-Raf proto-oncogene, serine/threonine kinase
OMIM: 164757
PanelMode of inheritanceDetails
9 panels
R-numbers: R135
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
R-numbers: R100
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
cardiofaciocutaneous syndrome type 115150, Noonan syndrome type 7 613706
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
LEOPARD SYNDROME TYPE 3 613707, NOONAN SYNDROME TYPE 7 613706, CARDIOFACIOCUTANEOUS SYNDROME 115150
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CARDIOFACIOCUTANEOUS SYNDROME, LEOPARD SYNDROME TYPE 3, NOONAN SYNDROME TYPE 7
R-numbers: R59
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardiofaciocutaneous syndrome 115150, Noonan syndrome 7 613706, LEOPARD syndrome 3 613707
R-numbers: R147
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
LEOPARD syndrome 3, LEOPARD Syndrome, Cardiofaciocutaneous syndrome, Cardiofaciocutaneous Syndrome, Cardio-facio-cutaneous syndrome, Noonan Syndrome
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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)
R-numbers: R236
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cardio-facio-cutaneous syndrome, Syringocystadenoma papilliferum, Melanocytic naevi, LPRD3, CARDIOFACIOCUTANEOUS SYNDROME 1, CFC1, LEOPARD SYNDROME 3
R-numbers: R136
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
LEOPARD syndrome 3 613707, Noonan syndrome 7 613706, Cardiofaciocutaneous syndrome 115150