rs397514655
×
Entrez Id:
4208
Gene Symbol:
MEF2C
MEF2C
Movement Disorders
G
0.700
CausalMutation
CLINVAR
MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.
23389741
2013
rs397514655
×
Entrez Id:
4208
Gene Symbol:
MEF2C
MEF2C
Movement Disorders
G
0.700
CausalMutation
CLINVAR
Genetic analysis of essential cardiac transcription factors in 256 patients with non-syndromic congenital heart defects.
22498567
2012
rs397514655
×
Entrez Id:
4208
Gene Symbol:
MEF2C
MEF2C
Movement Disorders
G
0.700
CausalMutation
CLINVAR
MEF2: a central regulator of diverse developmental programs.
17959722
2007
rs397514655
×
Entrez Id:
4208
Gene Symbol:
MEF2C
MEF2C
Movement Disorders
G
0.700
CausalMutation
CLINVAR
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.
20513142
2010
rs397514655
×
Entrez Id:
4208
Gene Symbol:
MEF2C
MEF2C
Movement Disorders
G
0.700
CausalMutation
CLINVAR
MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review.
27255693
2016
rs397514655
×
Entrez Id:
4208
Gene Symbol:
MEF2C
MEF2C
Movement Disorders
G
0.700
CausalMutation
CLINVAR
A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients.
19471318
2009
rs397514655
×
Entrez Id:
4208
Gene Symbol:
MEF2C
MEF2C
Movement Disorders
G
0.700
CausalMutation
CLINVAR
The MEF2C-Related and 5q14.3q15 Microdeletion Syndrome.
22670137
2012
rs397514655
×
Entrez Id:
4208
Gene Symbol:
MEF2C
MEF2C
Movement Disorders
G
0.700
CausalMutation
CLINVAR
Myocyte enhancer factor 2C as a neurogenic and antiapoptotic transcription factor in murine embryonic stem cells.
18579729
2008
rs397514655
×
Entrez Id:
4208
Gene Symbol:
MEF2C
MEF2C
Movement Disorders
G
0.700
CausalMutation
CLINVAR
MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations.
19592390
2010
rs397514655
×
Entrez Id:
4208
Gene Symbol:
MEF2C
MEF2C
Movement Disorders
G
0.700
CausalMutation
CLINVAR
Patterns and rates of exonic de novo mutations in autism spectrum disorders.
22495311
2012