rs121918457
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Hypertrophic Cardiomyopathy
T
0.710
CausalMutation
CLINVAR
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.
12058348
2002
rs121918457
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Hypertrophic Cardiomyopathy
T
0.710
CausalMutation
CLINVAR
A novel PTPN11 mutation in LEOPARD syndrome.
14961557
2003
rs121918457
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Hypertrophic Cardiomyopathy
T
0.710
CausalMutation
CLINVAR
Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome.
15121796
2004
rs121918457
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Hypertrophic Cardiomyopathy
T
0.710
CausalMutation
CLINVAR
PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience.
15520399
2004
rs121918457
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Hypertrophic Cardiomyopathy
T
0.710
CausalMutation
CLINVAR
High incidence of malformation syndromes in a series of 1,073 children with cancer.
15712196
2005
rs121918457
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Hypertrophic Cardiomyopathy
T
0.710
CausalMutation
CLINVAR
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.
16358218
2006
rs121918457
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Hypertrophic Cardiomyopathy
T
0.710
CausalMutation
CLINVAR
PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects.
16377799
2006
rs121918457
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Hypertrophic Cardiomyopathy
T
0.710
CausalMutation
CLINVAR
Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1.
16638574
2006
rs121918457
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Hypertrophic Cardiomyopathy
T
0.710
CausalMutation
CLINVAR
LEOPARD syndrome with partly normal skin and sex chromosome mosaicism.
17935252
2007
rs121918457
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Hypertrophic Cardiomyopathy
T
0.710
CausalMutation
CLINVAR
Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes.
18372317
2008
rs121918457
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Hypertrophic Cardiomyopathy
T
0.710
CausalMutation
CLINVAR
Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development.
18849586
2009
rs121918457
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Hypertrophic Cardiomyopathy
T
0.710
CausalMutation
CLINVAR
Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade.
19133693
2009
rs121918457
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Hypertrophic Cardiomyopathy
T
0.710
CausalMutation
CLINVAR
The Marshall M. Parks memorial lecture: making sense of early-onset childhood retinal dystrophies--the clinical phenotype of Leber congenital amaurosis.
19825837
2010
rs121918457
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Hypertrophic Cardiomyopathy
T
0.710
CausalMutation
CLINVAR
Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling.
20308328
2010
rs121918457
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Hypertrophic Cardiomyopathy
T
0.710
CausalMutation
CLINVAR
Phosphatase-dependent and -independent functions of Shp2 in neural crest cells underlie LEOPARD syndrome pathogenesis.
20493809
2010
rs121918457
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Hypertrophic Cardiomyopathy
T
0.710
CausalMutation
CLINVAR
Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome.
20535210
2010
rs121918457
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Hypertrophic Cardiomyopathy
T
0.710
CausalMutation
CLINVAR
Familial cases of atypical clinical features genetically diagnosed as LEOPARD syndrome (multiple lentigines syndrome).
20883402
2010
rs121918457
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Hypertrophic Cardiomyopathy
T
0.710
CausalMutation
CLINVAR
LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria.
21365175
2011
rs121918457
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Hypertrophic Cardiomyopathy
T
0.710
CausalMutation
CLINVAR
Visual processing in Noonan syndrome: dorsal and ventral stream sensitivity.
21910245
2011
rs121918457
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Hypertrophic Cardiomyopathy
T
0.710
CausalMutation
CLINVAR
RASopathies: Clinical Diagnosis in the First Year of Life.
22190897
2011
rs121918457
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Hypertrophic Cardiomyopathy
T
0.710
CausalMutation
CLINVAR
Reactive oxygen species and epidermal growth factor are antagonistic cues controlling SHP-2 dimerization.
22411627
2012
rs121918457
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Hypertrophic Cardiomyopathy
T
0.710
CausalMutation
CLINVAR
Pediatric cardiomyopathy: importance of genetic and metabolic evaluation.
22555271
2012
rs121918457
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Hypertrophic Cardiomyopathy
T
0.710
CausalMutation
CLINVAR
A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1.
22585553
2012
rs121918457
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Hypertrophic Cardiomyopathy
0.710
GeneticVariation
BEFREE
Here we present a patient with severe, progressive neonatal HCM , elevated urinary catecholamine metabolites, and dysmorphic features in whom we identified a known LEOPARD syndrome-associated PTPN11 mutation (c.1403 C > T; p.T468M ) and a novel, potentially pathogenic missense SOS1 variant (c.1018 C > T; p.P340S) replacing a rigid nonpolar imino acid with a polar amino acid at a highly conserved position.
22585553
2012
rs121918457
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Hypertrophic Cardiomyopathy
T
0.710
CausalMutation
CLINVAR
PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots?
22681964
2011