BRAF

B-Raf proto-oncogene, serine/threonine kinase
OMIM: 164757
PanelMode of inheritanceDetails
10 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
LEOPARD SYNDROME TYPE 3 613707, NOONAN SYNDROME TYPE 7 613706, CARDIOFACIOCUTANEOUS SYNDROME 115150
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 4.134
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardiofaciocutaneous syndrome 115150, Noonan syndrome 7 613706, LEOPARD syndrome 3 613707
R-numbers: R21, R412
Signed-off version 3.122
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CARDIOFACIOCUTANEOUS SYNDROME, LEOPARD SYNDROME TYPE 3, NOONAN SYNDROME TYPE 7
R-numbers: R147
Signed-off version 3.0
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:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
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: R327
Signed-off version 2.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
R-numbers: R236
Signed-off version 3.0
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: R159
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardiofaciocutaneous syndrome, OMIM:115150, cardiofaciocutaneous syndrome, MONDO:0015280
R-numbers: R136
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
LEOPARD syndrome 3 613707, Noonan syndrome 7 613706, Cardiofaciocutaneous syndrome 115150
R-numbers: R100
Signed-off version 4.177
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
cardiofaciocutaneous syndrome type 115150, Noonan syndrome type 7 613706