Gene: PTPN11 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918456
rs121918456
PTPN11
G 0.800 CausalMutation CLINVAR Ptpn11(Y279C/+) (LS/+) mice recapitulated the human disorder, with short stature, craniofacial dysmorphia, and morphologic, histologic, echocardiographic, and molecular evidence of hypertrophic cardiomyopathy (HCM). 21339643

2011
dbSNP: rs121918456
rs121918456
PTPN11
G 0.800 CausalMutation CLINVAR LEOPARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD. 21747628

2011
dbSNP: rs121918456
rs121918456
PTPN11
G 0.800 CausalMutation CLINVAR We describe two unrelated LS cases with a common PTPN11 mutation Y279C and with completely different clinical features including distinct changes in skin pigmentation. 19768645

2010
dbSNP: rs121918456
rs121918456
PTPN11
G 0.800 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
dbSNP: rs121918456
rs121918456
PTPN11
G 0.800 CausalMutation CLINVAR Phenotype-genotype correlation in a patient with co-occurrence of Marfan and LEOPARD syndromes. 19725129

2009
dbSNP: rs121918456
rs121918456
PTPN11
G 0.800 CausalMutation CLINVAR Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development. 18849586

2009
dbSNP: rs121918456
rs121918456
PTPN11
G 0.800 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
dbSNP: rs121918456
rs121918456
PTPN11
G 0.800 CausalMutation CLINVAR Furthermore, we show that the recurrent LS-causing Y279C and T468M amino acid substitutions engender loss of SHP-2 catalytic activity, identifying a previously unrecognized behavior for this class of missense PTPN11 mutations. 16358218

2006
dbSNP: rs121918456
rs121918456
PTPN11
G 0.800 CausalMutation CLINVAR A missense mutation (836-->G; Tyr279Cys) in exon 7 of PTPN11 gene was identified in this patient and his mother with LEOPARD syndrome. 16679933

2006
dbSNP: rs121918456
rs121918456
PTPN11
G 0.800 CausalMutation CLINVAR PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience. 15520399

2004
dbSNP: rs121918456
rs121918456
PTPN11
G 0.800 CausalMutation CLINVAR Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome. 15121796

2004
dbSNP: rs121918456
rs121918456
PTPN11
G 0.800 CausalMutation CLINVAR [Molecular genetic mutation analysis of the PTPN11 gene in the multiple lentigines (LEOPARD) syndrome]. 14634749

2003
dbSNP: rs121918456
rs121918456
PTPN11
G 0.800 CausalMutation CLINVAR Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. 12058348

2002
dbSNP: rs121918456
rs121918456
PTPN11
G 0.800 CausalMutation CLINVAR All three cases of LEOPARD syndrome reported here have a Y279C mutation in the PTPN11 gene. 12161596

2002
dbSNP: rs121918456
rs121918456
PTPN11
G 0.800 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261

2002
dbSNP: rs121918456
rs121918456
PTPN11
C 0.800 CausalMutation CLINVAR

dbSNP: rs121918457
rs121918457
PTPN11
T 0.780 CausalMutation CLINVAR ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. 29493581

2018
dbSNP: rs121918457
rs121918457
PTPN11
T 0.780 CausalMutation CLINVAR PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain. 25884655

2015
dbSNP: rs121918457
rs121918457
PTPN11
T 0.780 CausalMutation CLINVAR Molecular basis of gain-of-function LEOPARD syndrome-associated SHP2 mutations. 24935154

2014
dbSNP: rs121918457
rs121918457
PTPN11
T 0.780 CausalMutation CLINVAR A new examination of the patient and his similarly affected father, who was initially referred as healthy, led us to suspect LEOPARD syndrome, The diagnosis was then confirmed by the occurrence in both patients of a heterozygous mutation c.1403 C > T, p.(Thr468Met), of PTPN11. 24767283

2014
dbSNP: rs121918457
rs121918457
PTPN11
T 0.780 CausalMutation CLINVAR Medulloblastoma in a patient with the PTPN11 p.Thr468Met mutation. 23813970

2013
dbSNP: rs121918457
rs121918457
PTPN11
T 0.780 CausalMutation CLINVAR Pediatric cardiomyopathy: importance of genetic and metabolic evaluation. 22555271

2012
dbSNP: rs121918457
rs121918457
PTPN11
T 0.780 CausalMutation CLINVAR 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
dbSNP: rs121918457
rs121918457
PTPN11
T 0.780 CausalMutation CLINVAR PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots? 22681964

2011
dbSNP: rs121918457
rs121918457
PTPN11
T 0.780 CausalMutation CLINVAR Direct sequencing of the patients' genomic DNA revealed that all three had a consistent missense mutation [c.1403C > T (p.T468M)] in the PTPN11 gene, confirming LEOPARD syndrome with an atypical phenotype. 20883402

2010