present in Gene: CHD2
present in Chromosome: 15
Position on Chromosome: 92953386
Alleles of this Variant: T/C
rs1555440555 in
CHD2 gene and
Dysmorphic features
PMID 24207121 2013 De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.
PMID 22865819 2012 Mutations of ANK3 identified by exome sequencing are associated with autism susceptibility.
PMID 22495311 2012 Patterns and rates of exonic de novo mutations in autism spectrum disorders.
PMID 28960266 2017 Autism spectrum disorder recurrence, resulting of germline mosaicism for a CHD2 gene missense variant.
PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
PMID 25284784 2014 De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder.
PMID 17350655 2007 The Chd family of chromatin remodelers.
PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
PMID 23934111 2013 De novo mutations in epileptic encephalopathies.
PMID 25672921 2015 CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures.
PMID 26754451 2016 Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation.
PMID 25418537 2014 Recurrent de novo mutations implicate novel genes underlying simplex autism risk.
rs1555440555 in
CHD2 gene and
Overgrowth
PMID 28960266 2017 Autism spectrum disorder recurrence, resulting of germline mosaicism for a CHD2 gene missense variant.
PMID 25672921 2015 CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures.
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 17350655 2007 The Chd family of chromatin remodelers.
PMID 26754451 2016 Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation.
PMID 25418537 2014 Recurrent de novo mutations implicate novel genes underlying simplex autism risk.
PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
PMID 25284784 2014 De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder.
PMID 24207121 2013 De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.
PMID 22865819 2012 Mutations of ANK3 identified by exome sequencing are associated with autism susceptibility.
PMID 23934111 2013 De novo mutations in epileptic encephalopathies.