AutismKB

Detail Information of AutCNV0000244

1. Sample AND Method Top
Ancestry ADI-R ADOS Diagnosis Family Individual Reference
Total Simplex Multiplex Control Affected Control Total
MixedASD 397 35 362 - 397 372 769 Christian, 2008
Population: USA
Platform: RPCI 19K BAC array
Method: aCGH
Marker:-
Band:22q11.21
Evidences:Overlapping/Recurrent CNVs; Denovo CNVs;
Region: Chr22: 17445949 - 19672880
Gain/Loss:gain
2. Related Syndromic Genes Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
Gene ID Gene Symbol Inheritance Evidence Level
AutG6899 TBX1 AD Level 3: The gene has been reported in many families with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
3. Related Non-syndromic Genes Top
Gene ID Gene Symbol Evidence Score Total Score
Low-Scale Association GWAS Low-Scale Single Gene Expression CNV Linkage
AutG1312 COMT 2 0 1 0 2 1 18
AutG8220 DGCR14 0 0 1 0 2 1 12
AutG54584 GNB1L 0 0 1 0 2 1 12
AutG54487 DGCR8 0 0 1 0 2 1 12
AutG7122 CLDN5 0 0 0 2 2 1 7
AutG9993 DGCR2 0 0 0 1 2 1 6
AutG3053 SERPIND1 0 0 0 1 2 1 6

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  (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
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