×
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.
28866611 2018
×
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance.
28881385 2018
×
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
Mutations in HECW2 are associated with intellectual disability and epilepsy.
27334371 2016
×
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders.
26482601 2016
×
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression.
27375234 2016
×
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.
24680889 2014
×
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
Deletion of 3p25.3 in a patient with intellectual disability and dysmorphic features with further definition of a critical region.
23613140 2013
×
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
Like a rolling histone: epigenetic regulation of neural stem cells and brain development by factors controlling histone acetylation and methylation.
22986149 2013
×
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
Interstitial 3p25.3-p26.1 deletion in a patient with intellectual disability.
22965684 2012
×
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
23020937 2012
×
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
Patterns and rates of exonic de novo mutations in autism spectrum disorders.
22495311 2012
×
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
Molecular characterization and clinical features of a patient with an interstitial deletion of 3p25.3-p26.1.
21082655 2010
×
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
Microarray based analysis of 3p25-p26 deletions (3p- syndrome).
19760623 2009
×
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
The control of histone lysine methylation in epigenetic regulation.
16919862 2007
×
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
Genome-wide atlas of gene expression in the adult mouse brain.
17151600 2007
×
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
SET domain protein lysine methyltransferases: Structure, specificity and catalysis.
17013555 2006
×
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia.
17100993 2006
×
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
The SET-domain protein superfamily: protein lysine methyltransferases.
16086857 2005
×
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
Histone methyltransferases G9a and GLP form heteromeric complexes and are both crucial for methylation of euchromatin at H3-K9.
15774718 2005
×
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
GenePaint.org: an atlas of gene expression patterns in the mouse embryo.
14681479 2004
×
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
Structure and catalytic mechanism of the human histone methyltransferase SET7/9.
12540855 2003
×
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
NSD1 is essential for early post-implantation development and has a catalytically active SET domain.
12805229 2003
×
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
G9a histone methyltransferase plays a dominant role in euchromatic histone H3 lysine 9 methylation and is essential for early embryogenesis.
12130538 2002
×
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
The polycomb-group gene Ezh2 is required for early mouse development.
11390661 2001
×
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.
10699187 2000