×
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
Cardio-facio-cutaneous syndrome
1.000
GeneticVariation
BEFREE
Cardiofaciocutaneous syndrome (CFCS ) is a rare developmental disorder that is phenotypically similar to Noonan syndrome and is associated with mutations in BRAF, MEK1 , MEK2, and KRAS.31125963 2019
×
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
Cardio-facio-cutaneous syndrome
1.000
GeneticVariation
BEFREE
However, despite reduced levels of MEK1 protein and the lower abundance of MEK1 Y130C protein than wild type, <i>Mek1</i><sup>Y130C </sup> mutants showed increased ERK (MAPK) protein activation in response to growth factors, supporting a role for MEK1 Y130C in hyperactivation of the RAS/MAPK pathway, leading to CFC .
29590634 2018
×
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
Cardio-facio-cutaneous syndrome
1.000
GeneticVariation
BEFREE
CFC is associated with mutations in BRAF, KRAS, MEK1 and MEK2.29704308 2018
×
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
Cardio-facio-cutaneous syndrome
1.000
Biomarker
GENOMICS_ENGLAND
Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.
29461977 2018
×
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
Cardio-facio-cutaneous syndrome
1.000
GeneticVariation
CLINVAR
ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.
29493581 2018
×
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
Cardio-facio-cutaneous syndrome
1.000
GeneticVariation
BEFREE
Mutations in MAP2K1 , a gene expressed within the RAS-mitogen activated protein kinase (RAS/MAPK) pathway, are generally associated with the clinical phenotype of cardiofaciocutaneous syndrome .
27862862 2017
×
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
Cardio-facio-cutaneous syndrome
1.000
CausalMutation
CLINVAR
In vivo severity ranking of Ras pathway mutations associated with developmental disorders.
28049852 2017
×
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
Cardio-facio-cutaneous syndrome
1.000
GeneticVariation
BEFREE
He was found to have a novel heterozygous missense variant (c.305A > G; p.E102G ) in MAP2K1 , a gene mostly causal for cardio-facio-cutaneous syndrome (CFCS ).
25423878 2015
×
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
Cardio-facio-cutaneous syndrome
1.000
CausalMutation
CLINVAR
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
24803665 2014
×
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
Cardio-facio-cutaneous syndrome
1.000
CausalMutation
CLINVAR
Next-generation sequencing identifies rare variants associated with Noonan syndrome.
25049390 2014
×
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
Cardio-facio-cutaneous syndrome
1.000
CausalMutation
CLINVAR
Cardio-facio-cutaneous syndrome with precocious puberty, growth hormone deficiency and hyperprolactinemia.
24637312 2014
×
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
Cardio-facio-cutaneous syndrome
1.000
Biomarker
CLINGEN
Next-generation sequencing identifies rare variants associated with Noonan syndrome.
25049390 2014
×
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
Cardio-facio-cutaneous syndrome
1.000
CausalMutation
CLINVAR
Pharmacodynamic effects and mechanisms of resistance to vemurafenib in patients with metastatic melanoma.
23569304 2013
×
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
Cardio-facio-cutaneous syndrome
1.000
Biomarker
GENOMICS_ENGLAND
The RASopathies.
23875798 2013
×
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
Cardio-facio-cutaneous syndrome
1.000
Biomarker
GENOMICS_ENGLAND
Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.
23321623 2013
×
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
Cardio-facio-cutaneous syndrome
1.000
Biomarker
BEFREE
Germline mutations in HRAS have been identified in patients with Costello syndrome and mutations in KRAS, BRAF, and MAP2K1 /2 (MEK1 /2) have been identified in patients with CFC syndrome .
23250860 2013
×
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
Cardio-facio-cutaneous syndrome
1.000
Biomarker
CLINGEN
The RASopathies.
23875798 2013
×
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
Cardio-facio-cutaneous syndrome
1.000
CausalMutation
CLINVAR
Molecular typing of lung adenocarcinoma on cytological samples using a multigene next generation sequencing panel.
24236184 2013
×
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
Cardio-facio-cutaneous syndrome
1.000
Biomarker
GENOMICS_ENGLAND
The RASopathies.
23875798 2013
×
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
Cardio-facio-cutaneous syndrome
1.000
CausalMutation
CLINVAR
Oncogenic MAP2K1 mutations in human epithelial tumors.
22327936 2012
×
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
Cardio-facio-cutaneous syndrome
1.000
CausalMutation
CLINVAR
Case report: Noonan syndrome with multiple giant cell lesions and review of the literature.
22848035 2012
×
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
Cardio-facio-cutaneous syndrome
1.000
CausalMutation
CLINVAR
A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins.
23093928 2012
×
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
Cardio-facio-cutaneous syndrome
1.000
Biomarker
BEFREE
Mutations in KRAS, BRAF, and MAP2K1 /2 (MEK1 /2) have been identified in patients with CFC syndrome .
20523244 2011
×
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
Cardio-facio-cutaneous syndrome
1.000
GeneticVariation
BEFREE
PTPN11 (39.0%), SOS1 (20.3%), RAF1 (6.8%), KRAS (5.1%), and BRAF (1.7%) mutations were identified in NS; BRAF (41.2%), SHOC2 (23.5%), and MEK1 (5.9%) mutations in cardiofaciocutaneous syndrome ; and HRAS and PTPN11 mutations in Costello syndrome and LEOPARD syndrome, respectively.
21784453 2011
×
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
Cardio-facio-cutaneous syndrome
1.000
GeneticVariation
BEFREE
Here, we describe the laboratory protocols and methods that we used to identify mutations in BRAF and MEK1 /2 genes as causative for CFC syndrome .
20812000 2010