AutismKB

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
>DHCR7|1717|nucleotide
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>DHCR7|1717|protein
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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 (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.
InheritanceAR
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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