PTPN11

protein tyrosine phosphatase, non-receptor type 11
OMIM: 176876
PanelMode of inheritanceDetails
12 panels
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Noonan syndrome
R-numbers: R135
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Noonan syndrome 1, LEOPARD syndrome 1 151100, LEOPARD syndrome 1, Noonan syndrome 1 163950, Noonan syndrome, syndromic HCM, LEOPARD syndrome
R-numbers: R100
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Noonan syndrome type 1 163950, leopard syndrome 151100
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 1 151100, NOONAN SYNDROME 1 163950
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
LEOPARD SYNDROME TYPE 1, NOONAN SYNDROME 1
R-numbers: R147
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
LEOPARD syndrome 1, LEOPARD syndrome, Noonan syndrome 1, Noonan syndrome
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Class: Ras-opathy, Noonan syndrome, JMML, ALL, Solid tumors
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
Noonan syndrome 1, 163950LEOPARD syndrome 1, 151100Leukemia, juvenile myelomonocytic, 607785Metachondromatosis, 156250, LEOPARD SYNDROME TYPE 1
R-numbers: R236
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Noonan syndrome with lentigines (LEOPARD), LEOPARD SYNDROME 1, LPRD1, NOONAN SYNDROME 1, Noonan syndrome, NS1
R-numbers: R136
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Noonan syndrome 1 163950, LEOPARD syndrome 1 151100
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Metachondromatosis 156250, LEOPARD syndrome 1 151100, Noonan syndrome 1 163950, LEOPARD syndrome 1 151100
R-numbers: R359
Signed-off version 2.5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Noonan syndrome, 163950