Gene: SHOC2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607048
rs267607048
SHOC2
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
dbSNP: rs267607048
rs267607048
SHOC2
G 0.750 CausalMutation CLINVAR Hydrops fetalis in a preterm newborn heterozygous for the c.4A>G SHOC2 mutation. 24458587

2014
dbSNP: rs267607048
rs267607048
SHOC2
G 0.750 CausalMutation CLINVAR Coarctation of the aorta in Noonan-like syndrome with loose anagen hair. 24458596

2014
dbSNP: rs267607048
rs267607048
SHOC2
G 0.750 CausalMutation CLINVAR The recently identified SHOC2 mutation (p.Ser2Gly) causes Noonan syndrome with loose anagen hair. 23918763

2013
dbSNP: rs267607048
rs267607048
SHOC2
0.750 GeneticVariation BEFREE The recently identified SHOC2 mutation (p.Ser2Gly) causes Noonan syndrome with loose anagen hair. 23918763

2013
dbSNP: rs267607048
rs267607048
SHOC2
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
dbSNP: rs267607048
rs267607048
SHOC2
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
dbSNP: rs267607048
rs267607048
SHOC2
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
dbSNP: rs267607048
rs267607048
SHOC2
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
dbSNP: rs267607048
rs267607048
SHOC2
G 0.750 CausalMutation CLINVAR Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies. 20882035

2010
dbSNP: rs267607048
rs267607048
SHOC2
G 0.750 CausalMutation CLINVAR Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. 19684605

2009