MAP2K1

mitogen-activated protein kinase kinase 1
OMIM: 176872
PanelMode of inheritanceDetails
9 panels
R-numbers: R135
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CFC syndrome, ?Noonan syndrome, syndromic HCM, LEOPARD syndrome, Cardiofaciocutaneous syndrome 3, Cardiofaciocutaneous Syndrome, Cardio-Facio-Cutaneous syndrome
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CARDIOFACIOCUTANEOUS SYNDROME 115150
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CARDIOFACIOCUTANEOUS SYNDROME
R-numbers: R59
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardiofaciocutaneous syndrome 3, 615279
R-numbers: R147
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
LEOPARD syndrome, CFC syndrome, Cardiofaciocutaneous syndrome, Cardiofaciocutaneous Syndrome, Cardio-Facio-Cutaneous syndrome, Cardiofaciocutaneous syndrome 3, ?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
Cardiofaciocutaneous syndrome 3, 615279, CARDIOFACIOCUTANEOUS SYNDROME (CFC SYNDROME)
R-numbers: R327
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cardio-facio-cutaneous syndrome
R-numbers: R236
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cardiofaciocutaneous Syndrome, CFC syndrome, LEOPARD syndrome, CFC3, Cardio-Facio-Cutaneous syndrome, ?Noonan syndrome, Cardiofaciocutaneous syndrome 3, CARDIOFACIOCUTANEOUS SYNDROME 3
R-numbers: R136
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardiofaciocutaneous syndrome 3 615279