Evidence Detail for DSC2

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Basic Information Top
Gene Symbol:DSC2 ( ARVD11,CDHF2,DG2,DGII/III,DKFZp686I11137,DSC3 )
Gene Full Name: desmocollin 2
Band: 18q12.1
Quick LinksEntrez ID:1824; OMIM: 125645; Uniprot ID:DSC2_HUMAN; ENSEMBL ID: ENSG00000134755
Sequences Top
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Evidence Statistic Top

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Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) No 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 1 (1) 8 (2)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Vincent, 2008_1 human ---AD case report
  • Subjects: 1
  • Normal Controls: -
  • Methods: -
  • Evidence Details: We have recently reported the identification of a de novo balanced translocation t(5;18)(q33.1;q12.1) in a boy with autism. The 18q breakpoint lies between desmocollin genes DSC1 and DSC2. we determined that both DSC1 and DSC2 are only transcribed from the normal chromosome 18 in lymphocytes from the proband. This monoallelic expression of DSC2 may put the patient at risk for arrythmogenic right ventricular cardiomyopathy.
Large Scale Expression Studies Top
CNV Studies Top
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000141 18q12.1-21.1 18 D18S536/D18S970 - - 0.0022 Lauritsen, 2006

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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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