|
rs267607048
|
|
|
0.750 |
GeneticVariation |
BEFREE |
A recurrent activating mutation in SHOC2 (p.Ser2Gly) causes Mazzanti syndrome, a RASopathy characterized by features resembling Noonan syndrome and distinctive ectodermal abnormalities.
|
31059601 |
2019 |
|
rs267607048
|
|
G |
0.750 |
CausalMutation |
CLINVAR |
Hydrops fetalis in a preterm newborn heterozygous for the c.4A>G SHOC2 mutation.
|
24458587 |
2014 |
|
rs267607048
|
|
G |
0.750 |
CausalMutation |
CLINVAR |
Coarctation of the aorta in Noonan-like syndrome with loose anagen hair.
|
24458596 |
2014 |
|
rs267607048
|
|
G |
0.750 |
CausalMutation |
CLINVAR |
The recently identified SHOC2 mutation (p.Ser2Gly) causes Noonan syndrome with loose anagen hair.
|
23918763 |
2013 |
|
rs267607048
|
|
|
0.750 |
GeneticVariation |
BEFREE |
The recently identified SHOC2 mutation (p.Ser2Gly) causes Noonan syndrome with loose anagen hair.
|
23918763 |
2013 |
|
rs267607048
|
|
|
0.750 |
GeneticVariation |
BEFREE |
The entire protein coding sequence of 9 genes implicated in Noonan syndrome and related conditions (PTPN11, SOS1, HRAS, KRAS, NRAS, BRAF, RAF1, MAP2K1, and MAP2K2), together with CBL (exons 8 and 9) and SHOC2 (4A>G), were screened for mutations.
|
22589294 |
2012 |
|
rs267607048
|
|
|
0.750 |
GeneticVariation |
BEFREE |
We report on a patient with Noonan syndrome due to SHOC2 missense mutation predicting p.Ser2Gly, recently described in association with Noonan syndrome.
|
22528146 |
2012 |
|
rs267607048
|
|
G |
0.750 |
CausalMutation |
CLINVAR |
Clinical testing of genes causative of Noonan syndrome and related disorders detected the previously reported, pathogenic, de novo SHOC2 missense mutation predicting p.Ser2Gly.
|
22528146 |
2012 |
|
rs267607048
|
|
|
0.750 |
GeneticVariation |
BEFREE |
Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM 607721), recently related to the invariant c.4A>G missense change in SHOC2, is characterized by features reminiscent of Noonan syndrome.
|
22419608 |
2012 |
|
rs267607048
|
|
G |
0.750 |
CausalMutation |
CLINVAR |
Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies.
|
20882035 |
2010 |
|
rs267607048
|
|
G |
0.750 |
CausalMutation |
CLINVAR |
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.
|
19684605 |
2009 |
|
rs121918462
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Here, we report a Japanese female infant with NS carrying the PTPN11 T73I mutation with NS/MPD, complete atrio-ventricular septal defect, and rapidly progressive HCM.
|
26286251 |
2015 |
|
rs121918462
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish.
|
24718990 |
2014 |
|
rs121918462
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Juvenile myelomonocytic leukaemia and Noonan syndrome.
|
25097206 |
2014 |
|
rs121918462
|
|
|
0.740 |
GeneticVariation |
BEFREE |
A de novo T73I mutation in PTPN11 in a neonate with severe and prolonged congenital thrombocytopenia and Noonan syndrome.
|
23446178 |
2013 |
|
rs121918462
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Relapsed childhood high hyperdiploid acute lymphoblastic leukemia: presence of preleukemic ancestral clones and the secondary nature of microdeletions and RTK-RAS mutations.
|
20237506 |
2010 |
|
rs121918462
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
We report a patient with classical cardinal features of NS, including short stature, mild ptosis, hypertelorism, down-slating palpebral fissures, low-set and posteriorly angulated ears, short neck, pectus excavatum, widely spaced nipples and cryptochidism, which were associated with bilateral central giant cell lesions in the mandible and germ-line mutation (C218T, Thr73Ile) in the exon 3 of the PTPN11 gene.
|
20383758 |
2010 |
|
rs121918462
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Characterization of acute myeloid leukemia with PTPN11 mutation: the mutation is closely associated with NPM1 mutation but inversely related to FLT3/ITD.
|
17972951 |
2008 |
|
rs121918462
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Mutations of FLT3, NRAS, KRAS, and PTPN11 are frequent and possibly mutually exclusive in high hyperdiploid childhood acute lymphoblastic leukemia.
|
17910045 |
2008 |
|
rs121918462
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients.
|
18331608 |
2008 |
|
rs121918462
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype.
|
17020470 |
2006 |
|
rs121918462
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.
|
16358218 |
2006 |
|
rs121918462
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Somatic PTPN11 mutations in childhood acute myeloid leukaemia.
|
15842656 |
2005 |
|
rs121918462
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes.
|
15987685 |
2005 |
|
rs121918462
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Differences in the prevalence of PTPN11 mutations in FAB M5 paediatric acute myeloid leukaemia.
|
16115145 |
2005 |