Evidence Detail for DHCR7

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Basic Information Top
Gene Symbol:DHCR7 ( SLOS )
Gene Full Name: 7-dehydrocholesterol reductase
Band: 11q13.4
Quick LinksEntrez ID:1717; OMIM: 602858; Uniprot ID:DHCR7_HUMAN; ENSEMBL ID: ENSG00000172893
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) Yes 0 (0) 0 (0) 1 (3) 0 (0) 0 (0) 0 (0) 2 (0)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
OMIMSmith-Lemli-Opitz syndrome (270400)
DescriptionSmith-Lemli-Opitz syndrome is an inborn error of metabolism affecting cholesterol biosynthesis. The rate of ASD in this syndrome is high: 53% (9/17) meet criteria for autism and 71% (10/14) have ASD, according to two studies
Reference(s)16761297; 16874769; 11223857;
LevelLevel 4: The disorder is a generally acknowledged ASD related disorder.
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000693 11 11q13.4 Gain - - CNVs Not Present In Control; Berkel, 2010
AutCNV0003330 11 11q13.3-13.4 gain 1 - CNVs Only Present In Patients; Gai, 2011
Linkage Studies Top

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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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