Gene: CHD2

Alternate names for this Gene: EEOC

Gene Summary: The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.

Gene is located in Chromosome: 15

Location in Chromosome : 15q26.1

Description of this Gene: chromodomain helicase DNA binding protein 2

Type of Gene: protein-coding

rs62023121 in CHD2 gene and Age at menarche PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

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.

rs398122998 in CHD2 gene and EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET PMID 24207121 2013 De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 28074849 2017 Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing.

PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

rs1555437424 in CHD2 gene and Epilepsy, Rolandic PMID 29358611 2018 Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.

rs1044778 in CHD2 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

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.

rs11632112 in CHD2 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.