CHD2 Chromosome 15
Chromodomain helicase DNA binding protein 2
Upload your DNA to see your personal genotypes for variants in CHD2.
What This Gene Does
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. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Helicases|SNF2 related family|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
15q26.1
Ensembl
ENSG00000173575
Associated Conditions (19)
Developmental and epileptic encephalopathy 94
Autism spectrum disorder
Inborn genetic diseases
CHD2-related disorder
Neurodevelopmental disorder
Intellectual disability
Self-limited epilepsy with centrotemporal spikes
Complex neurodevelopmental disorder
Seizure
Thyroid cancer
nonmedullary
1
Neurodevelopmental delay
Sifrim-Hitz-Weiss syndrome
Epilepsy with myoclonic atonic seizures
Epilepsy
Lennox-Gastaut syndrome
Autistic behavior
History of neurodevelopmental disorder
Key Variants
RS1000152328
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
Health Risk
RS1006465697
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy 94, Autism spectrum disorder, Developmental and epileptic encephalopathy 94
Health Risk
RS1008040869
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
Health Risk
RS1024223144
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
Health Risk
RS1034945378
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
Health Risk
RS1057522158
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1060503519
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
Health Risk
RS1064794438
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
Health Risk
RS1064795301
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
Health Risk
RS1158357314
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
Health Risk
RS1230076038
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
Health Risk
RS1240488615
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy 94, Inborn genetic diseases, Developmental and epileptic encephalopathy 94
Health Risk
All Variants (385)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS748694853 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 94, Inborn genetic diseases, Developmental and epileptic encephalopathy 94 |
| RS749969667 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 94, CHD2-related disorder, Seizure |
| RS751251777 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94 |
| RS752940775 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 94, History of neurodevelopmental disorder, Developmental and epileptic encephalopathy 94 |
| RS761115271 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94 |
| RS761127171 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 94, Epilepsy, Developmental and epileptic encephalopathy 94 |
| RS767106034 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94 |
| RS775406327 | Health Risk | Pathogenic | — |
| RS777803897 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94 |
| RS797044912 | Health Risk | Pathogenic | Inborn genetic diseases, Developmental and epileptic encephalopathy 94, Seizure |
| RS864309543 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94 |
| RS864309547 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 94, Inborn genetic diseases, CHD2-related disorder |
| RS864309548 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94 |
| RS869312705 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94 |
| RS869312877 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 94, Inborn genetic diseases, Developmental and epileptic encephalopathy 94 |
| RS886039708 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94 |
| RS886041547 | Health Risk | Pathogenic | — |
| RS886041566 | Health Risk | Pathogenic | — |
| RS886041628 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94 |
| RS886041650 | Health Risk | Pathogenic | — |
| RS886041717 | Health Risk | Pathogenic | — |
| RS886041783 | Health Risk | Pathogenic | — |
| RS886041857 | Health Risk | Pathogenic | — |
| RS1057519228 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94 |
| RS1057520592 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94 |
| RS1064796496 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, Developmental and epileptic encephalopathy 94, Intellectual disability |
| RS1131691515 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy 94, Inborn genetic diseases, Intellectual disability |
| RS1555439545 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, Intellectual disability |
| RS1555444603 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy 94, Complex neurodevelopmental disorder, Developmental and epileptic encephalopathy 94 |
| RS1596443241 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94 |
| RS2141755359 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy 94, Inborn genetic diseases, Developmental and epileptic encephalopathy 94 |
| RS2505617458 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94 |
| RS398122998 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy 94, Inborn genetic diseases, Developmental and epileptic encephalopathy 94 |
| RS773860345 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94 |
| RS864309545 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94 |