present in Gene: SETD5
present in Chromosome: 3
Position on Chromosome: 9447684
Alleles of this Variant: A/T
rs797044953 in
SETD5 gene and
Dysmorphic features
PMID 24680889 2014 De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.
PMID 23613140 2013 Deletion of 3p25.3 in a patient with intellectual disability and dysmorphic features with further definition of a critical region.
PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
PMID 7477409 1995 Altered Hox expression and segmental identity in Mll-mutant mice.
PMID 28881385 2018 Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance.
PMID 22986149 2013 Like a rolling histone: epigenetic regulation of neural stem cells and brain development by factors controlling histone acetylation and methylation.
PMID 27375234 2016 SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression.
PMID 26482601 2016 High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders.
PMID 27334371 2016 Mutations in HECW2 are associated with intellectual disability and epilepsy.
PMID 28866611 2018 Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.
PMID 22495311 2012 Patterns and rates of exonic de novo mutations in autism spectrum disorders.
PMID 21082655 2010 Molecular characterization and clinical features of a patient with an interstitial deletion of 3p25.3-p26.1.
PMID 16086857 2005 The SET-domain protein superfamily: protein lysine methyltransferases.
PMID 19760623 2009 Microarray based analysis of 3p25-p26 deletions (3p- syndrome).
PMID 17100993 2006 Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia.
PMID 15774718 2005 Histone methyltransferases G9a and GLP form heteromeric complexes and are both crucial for methylation of euchromatin at H3-K9.
PMID 22965684 2012 Interstitial 3p25.3-p26.1 deletion in a patient with intellectual disability.
PMID 16919862 2007 The control of histone lysine methylation in epigenetic regulation.
PMID 14681479 2004 GenePaint.org: an atlas of gene expression patterns in the mouse embryo.
PMID 12540855 2003 Structure and catalytic mechanism of the human histone methyltransferase SET7/9.
PMID 12130538 2002 G9a histone methyltransferase plays a dominant role in euchromatic histone H3 lysine 9 methylation and is essential for early embryogenesis.
PMID 12805229 2003 NSD1 is essential for early post-implantation development and has a catalytically active SET domain.
PMID 17151600 2007 Genome-wide atlas of gene expression in the adult mouse brain.
PMID 17013555 2006 SET domain protein lysine methyltransferases: Structure, specificity and catalysis.
PMID 10699187 2000 Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.
PMID 11390661 2001 The polycomb-group gene Ezh2 is required for early mouse development.
rs797044953 in
SETD5 gene and
Multiple congenital anomalies
PMID 12130538 2002 G9a histone methyltransferase plays a dominant role in euchromatic histone H3 lysine 9 methylation and is essential for early embryogenesis.
PMID 11390661 2001 The polycomb-group gene Ezh2 is required for early mouse development.
PMID 28881385 2018 Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance.
PMID 10699187 2000 Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.
PMID 28866611 2018 Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.
PMID 27375234 2016 SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression.
PMID 17151600 2007 Genome-wide atlas of gene expression in the adult mouse brain.
PMID 21082655 2010 Molecular characterization and clinical features of a patient with an interstitial deletion of 3p25.3-p26.1.
PMID 17013555 2006 SET domain protein lysine methyltransferases: Structure, specificity and catalysis.
PMID 26482601 2016 High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders.
PMID 19760623 2009 Microarray based analysis of 3p25-p26 deletions (3p- syndrome).
PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
PMID 22495311 2012 Patterns and rates of exonic de novo mutations in autism spectrum disorders.
PMID 22986149 2013 Like a rolling histone: epigenetic regulation of neural stem cells and brain development by factors controlling histone acetylation and methylation.
PMID 7477409 1995 Altered Hox expression and segmental identity in Mll-mutant mice.
PMID 12540855 2003 Structure and catalytic mechanism of the human histone methyltransferase SET7/9.
PMID 22965684 2012 Interstitial 3p25.3-p26.1 deletion in a patient with intellectual disability.
PMID 27334371 2016 Mutations in HECW2 are associated with intellectual disability and epilepsy.
PMID 14681479 2004 GenePaint.org: an atlas of gene expression patterns in the mouse embryo.
PMID 12805229 2003 NSD1 is essential for early post-implantation development and has a catalytically active SET domain.
PMID 24680889 2014 De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.
PMID 23613140 2013 Deletion of 3p25.3 in a patient with intellectual disability and dysmorphic features with further definition of a critical region.
PMID 16086857 2005 The SET-domain protein superfamily: protein lysine methyltransferases.
PMID 15774718 2005 Histone methyltransferases G9a and GLP form heteromeric complexes and are both crucial for methylation of euchromatin at H3-K9.
PMID 17100993 2006 Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia.
PMID 16919862 2007 The control of histone lysine methylation in epigenetic regulation.
rs797044953 in
SETD5 gene and
Muscle hypotonia
PMID 28881385 2018 Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance.
PMID 16919862 2007 The control of histone lysine methylation in epigenetic regulation.
PMID 17100993 2006 Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia.
PMID 15774718 2005 Histone methyltransferases G9a and GLP form heteromeric complexes and are both crucial for methylation of euchromatin at H3-K9.
PMID 17151600 2007 Genome-wide atlas of gene expression in the adult mouse brain.
PMID 26482601 2016 High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders.
PMID 22495311 2012 Patterns and rates of exonic de novo mutations in autism spectrum disorders.
PMID 7477409 1995 Altered Hox expression and segmental identity in Mll-mutant mice.
PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
PMID 22965684 2012 Interstitial 3p25.3-p26.1 deletion in a patient with intellectual disability.
PMID 21082655 2010 Molecular characterization and clinical features of a patient with an interstitial deletion of 3p25.3-p26.1.
PMID 27375234 2016 SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression.
PMID 28866611 2018 Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.
PMID 22986149 2013 Like a rolling histone: epigenetic regulation of neural stem cells and brain development by factors controlling histone acetylation and methylation.
PMID 27334371 2016 Mutations in HECW2 are associated with intellectual disability and epilepsy.
PMID 16086857 2005 The SET-domain protein superfamily: protein lysine methyltransferases.
PMID 19760623 2009 Microarray based analysis of 3p25-p26 deletions (3p- syndrome).
PMID 14681479 2004 GenePaint.org: an atlas of gene expression patterns in the mouse embryo.
PMID 10699187 2000 Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.
PMID 17013555 2006 SET domain protein lysine methyltransferases: Structure, specificity and catalysis.
PMID 23613140 2013 Deletion of 3p25.3 in a patient with intellectual disability and dysmorphic features with further definition of a critical region.
PMID 24680889 2014 De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.
PMID 11390661 2001 The polycomb-group gene Ezh2 is required for early mouse development.
PMID 12805229 2003 NSD1 is essential for early post-implantation development and has a catalytically active SET domain.
PMID 12540855 2003 Structure and catalytic mechanism of the human histone methyltransferase SET7/9.
PMID 12130538 2002 G9a histone methyltransferase plays a dominant role in euchromatic histone H3 lysine 9 methylation and is essential for early embryogenesis.