rs121918457, PTPN11

N. diseases: 24
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.780 CausalMutation CLINVAR ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. 29493581 2018
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.780 GeneticVariation BEFREE We report a patient with Noonan syndrome with multiple lentigines (NSML) due to a PTPN11 (p.Thr468Met) mutation associated with hypertrophic neuropathy of lumbar plexus in an adult woman, initially referred for neuropathic pain. 26952712 2016
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.780 GeneticVariation BEFREE The present study reports a young child diagnosed with LS via identification of a common p.Thr468Met mutation in PTPN11. 27484170 2016
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.780 CausalMutation CLINVAR PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain. 25884655 2015
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
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
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.780 CausalMutation CLINVAR Molecular basis of gain-of-function LEOPARD syndrome-associated SHP2 mutations. 24935154 2014
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.780 CausalMutation CLINVAR Medulloblastoma in a patient with the PTPN11 p.Thr468Met mutation. 23813970 2013
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.780 CausalMutation CLINVAR Pediatric cardiomyopathy: importance of genetic and metabolic evaluation. 22555271 2012
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
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
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.780 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
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.780 CausalMutation CLINVAR PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots? 22681964 2011
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.780 GeneticVariation BEFREE LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria. 21365175 2011
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
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
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.780 GeneticVariation BEFREE 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
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.780 CausalMutation CLINVAR Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development. 18849586 2009
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.780 CausalMutation CLINVAR [LEOPARD syndrome]. 19174044 2009
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.780 CausalMutation CLINVAR Multiple granular cell tumors are an associated feature of LEOPARD syndrome caused by mutation in PTPN11. 19054014 2009
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.780 CausalMutation CLINVAR Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade. 19133693 2009
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.780 CausalMutation CLINVAR PTPN11 mutations in LEOPARD syndrome: report of four cases in Taiwan. 19864201 2009
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.780 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
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.780 GeneticVariation BEFREE 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
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.780 CausalMutation CLINVAR We report on a family with LEOPARD syndrome which was molecularly proven (p.Thr468Met in PTPN11) in a father and his adult son. 17935252 2007
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.780 GeneticVariation BEFREE We report on a family with LEOPARD syndrome which was molecularly proven (p.Thr468Met in PTPN11) in a father and his adult son. 17935252 2007
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.780 CausalMutation CLINVAR PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects. 16377799 2006
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
0.780 CausalMutation CLINVAR Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1. 16638574 2006