RAF1

Raf-1 proto-oncogene, serine/threonine kinase
OMIM: 164760
PanelMode of inheritanceDetails
9 panels
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
LEOPARD syndrome 2 611554, Noonan syndrome 5 611553
R-numbers: R359
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
LEOPARD syndrome 2 611554, Noonan syndrome 5 611553
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
NOONAN SYNDROME 5 611553
R-numbers: R21, R412
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
NOONAN SYNDROME 5
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Noonan syndrome 5, 611553LEOPARD syndrome 2, 611554, NOONAN SYNDROME 5
R-numbers: R453
Signed-off version 1.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
LEOPARD syndrome 2, OMIM:611554, Noonan syndrome 5, OMIM:611553
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R135
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Noonan syndrome 5, Noonan syndrome, Noonan syndrome 5 611553, LEOPARD syndrome 2 611554, syndromic HCM, LEOPARD syndrome, LEOPARD syndrome 2
R-numbers: R236
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
NS5, Noonan syndrome with lentigines (LEOPARD), LEOPARD SYNDROME 2, Noonan syndrome, LPRD2, NOONAN SYNDROME 5
R-numbers: R136
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Noonan syndrome 5 611553, LEOPARD syndrome 2 611554