AutismKB

Evidence Detail for CHD7


View Evidences View Annotations
Basic Information Top
Gene Symbol:CHD7 ( FLJ20357,FLJ20361,IS3,KAL5,KIAA1416 )
Gene Full Name: chromodomain helicase DNA binding protein 7
Band: 8q12.2
Quick LinksEntrez ID:55636; OMIM: 608765,608892; Uniprot ID:CHD7_HUMAN; ENSEMBL ID: ENSG00000171316
Sequences Top
>CHD7|55636|nucleotide
Show »

>CHD7|55636|protein
Show »

Evidence Statistic Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) Yes 0 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (1) 7 (2)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
InheritanceAD
OMIMCHARGE syndrome (214800)
DescriptionCHARGE syndrome (coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies); 68% (17/25) have ASD/autistic traits
Reference(s)15637726; 16359593; 15688419; 19709852; 19664354; 15633180;
LevelLevel 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage #SNPs/ #VNTRs #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery 1 (detail) 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
O'Roak, 2012_1 human bloodASD Mutation screen
  • Subjects: 209 simplex pedigrees
  • Normal Controls: -
  • Methods: direct sequencing
  • Evidence Details: De novo functional mutation was found in this gene locus
Large Scale Expression Studies Top
CNV Studies Top
Linkage Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Quick Search:


  (e.g. NLGN4X)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
  • Click to Download Data

Registered with NIF