CHD8 Chromosome 14
Chromodomain helicase DNA binding protein 8
Upload your DNA to see your personal genotypes for variants in CHD8.
What This Gene Does
This gene encodes a member of the chromodomain-helicase-DNA binding protein family, which is characterized by a SNF2-like domain and two chromatin organization modifier domains. The encoded protein also contains brahma and kismet domains, which are common to the subfamily of chromodomain-helicase-DNA binding proteins to which this protein belongs. This gene has been shown to function in several processes that include transcriptional regulation, epigenetic remodeling, promotion of cell proliferation, and regulation of RNA synthesis. Allelic variants of this gene are associated with autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2016]
Gene Info
Gene Group
"SNF2 related family|Small nucleolar RNA protein coding host genes"
Locus Type
gene with protein product
Location
14q11.2
Ensembl
ENSG00000100888
Associated Conditions (22)
Intellectual developmental disorder with autism and macrocephaly
Inborn genetic diseases
Autism spectrum disorder
CHD8-related disorder
Congenital ptosis
Overgrowth
Fatigable weakness
Increased muscle fatiguability
Macrocephaly
Complex neurodevelopmental disorder
See cases
Intellectual disability
Developmental disorder
Marfanoid habitus and intellectual disability
Neurodevelopmental disorder
CHD8-associated Neurodevelopmental syndrome
Rare genetic intellectual disability
Familial prostate cancer
Uterine corpus endometrial carcinoma
Glioma susceptibility 1
+2 more conditions
Key Variants
RS1012219606
Conflicting classifications of pathogenicity
Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
Health Risk
RS1046663771
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1064795811
Conflicting classifications of pathogenicity
Health Risk
RS111250264
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1225380850
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1369694963
Conflicting classifications of pathogenicity
Health Risk
RS1372483405
Conflicting classifications of pathogenicity
Autism spectrum disorder, Autism spectrum disorder
Health Risk
RS1383426312
Conflicting classifications of pathogenicity
Health Risk
RS1392208482
Conflicting classifications of pathogenicity
Health Risk
RS1408226614
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1421013566
Conflicting classifications of pathogenicity
Health Risk
RS1435998081
Conflicting classifications of pathogenicity
Intellectual developmental disorder with autism and macrocephaly, Inborn genetic diseases, Intellectual developmental disorder with autism and macrocephaly
Health Risk
All Variants (270)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS556977377 | Health Risk | Pathogenic | Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly |
| RS55884219 | Health Risk | Pathogenic | Intellectual disability, Intellectual developmental disorder with autism and macrocephaly, Intellectual disability |
| RS774152851 | Health Risk | Pathogenic | Inborn genetic diseases, Autism spectrum disorder, Inborn genetic diseases |
| RS781575717 | Health Risk | Pathogenic | Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly |
| RS797044853 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS886039692 | Health Risk | Pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS886039725 | Health Risk | Pathogenic | — |
| RS886041884 | Health Risk | Pathogenic | — |
| RS886041968 | Health Risk | Pathogenic | — |
| RS886043086 | Health Risk | Pathogenic | — |
| RS991738444 | Health Risk | Pathogenic | Inborn genetic diseases, CHD8-related disorder, Inborn genetic diseases |
| RS1057524677 | Health Risk | Pathogenic/Likely pathogenic | CHD8-related disorder, CHD8-related disorder |
| RS1085307794 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly |
| RS1334692966 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder with autism and macrocephaly, CHD8-related disorder, Intellectual developmental disorder with autism and macrocephaly |
| RS1555313924 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly |
| RS1555314211 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder with autism and macrocephaly, Inborn genetic diseases, Intellectual developmental disorder with autism and macrocephaly |
| RS1555314736 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Intellectual developmental disorder with autism and macrocephaly, Inborn genetic diseases |
| RS751094013 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder, Intellectual developmental disorder with autism and macrocephaly, CHD8-related disorder |
| RS774906516 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly |
| RS863224857 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly |