PTPN11

protein tyrosine phosphatase, non-receptor type 11
OMIM: 176876
PanelMode of inheritanceDetails
14 panels
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Noonan syndrome
R-numbers: R359
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Noonan syndrome, 163950
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
LEOPARD SYNDROME TYPE 1 151100, NOONAN SYNDROME 1 163950
R-numbers: R21, R412
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
LEOPARD SYNDROME TYPE 1, NOONAN SYNDROME 1
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Class: Ras-opathy, Noonan syndrome, JMML, ALL, Solid tumors
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 1, 163950LEOPARD syndrome 1, 151100Leukemia, juvenile myelomonocytic, 607785Metachondromatosis, 156250, LEOPARD SYNDROME TYPE 1
R-numbers: R453
Signed-off version 1.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
LEOPARD syndrome 1, OMIM:151100, Noonan syndrome 1, OMIM:163950
R-numbers: R429
Signed-off version 1.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Focal cortical dysplasia, Mesial temporal sclerosis
R-numbers: R327
Signed-off version 2.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Phakomatosis pigmentovascularis (PPV), MONDO:0017318, LEOPARD syndrome 1, OMIM:151100, Speckled lentiginous naevus syndrome (deletion)
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 1, LEOPARD syndrome 1 151100, LEOPARD syndrome 1, Noonan syndrome 1 163950, Noonan syndrome, syndromic HCM, LEOPARD syndrome
R-numbers: R236
Signed-off version 3.0
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 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Noonan syndrome 1 163950, LEOPARD syndrome 1 151100
R-numbers: R100
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Noonan syndrome type 1 163950, leopard syndrome 151100
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Metachondromatosis 156250, LEOPARD syndrome 1 151100, Noonan syndrome 1 163950, LEOPARD syndrome 1 151100