DHCR7 W151X - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

DHCR7 W151X

(DHCR7 Trp151Stop)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • T @ chr11:71152447: 0.1% (10/10758) in EVS
  • Frequency shown in summary reports: 0.1% (10/10758)

Publications
 

Genomes
 

Other external references
 

    Web search results (124 hits -- see all)
  • Frequency gradients of DHCR7 mutations in patients with Smith ...
    W151X is the most frequent (0.33) mutation in Polish SLOS patients. ... shared the same DHCR7 haplotype, whereas the W151X mutation occurred on ...
    www.ncbi.nlm.nih.gov/pubmed/11175299
  • Frequency gradients of DHCR7 mutations in patients with Smith ...
    Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in ... shared the same DHCR7 haplotype, whereas the W151X mutation occurred on ...
    www.nature.com/ejhg/journal/v9/n1/abs/5200579a.html
  • Pregnancy and life after preimplantation genetic diagnosis of ...
    PATIENT(S): Two couples carrying the W151X mutation in the DHCR7 gene. ... (S): Delivery of healthy children without the W151X mutation in the DHCR7 gene. ...
    www.ncbi.nlm.nih.gov/pubmed/18442819
  • Unit on Molecular Dysmorphology
    To date, over 100 mutations of DHCR7 have been identified. ... Although NMD can be suppressed for the common W151X allele, DHCR7 enzymatic activity does not increase. ...
    2005annualreport.nichd.nih.gov/hdb/umd.htm
  • Unit on Molecular Dysmorphology
    To date, over 100 different mutations of DHCR7 have been identified. ... Although NMD can be suppressed for the common W151X allele, DHCR7 enzymatic activity is not increased. ...
    2004annualreport.nichd.nih.gov/hdb/umd.htm
  • Hereditary Cancer in Clinical Practice | Full text ...
    Home | Browse articles | Search | Weblinks | Submit article | My ... can predispose: NOD2 3020insC, CHEK2 I157T, CYP1B1 355T/T and DHCR7 W151X. In the group of "increased risk" ...
    www.hccpjournal.com/content/6/2/88
  • Mutational Spectrum in the D7-Sterol Reductase Gene and ...
    zygosity for 0 mutations in DHCR7 appears compatible. with life, suggesting that ... and a nonsense mutation (W151X); all. of these nonmissense mutations ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Abstracts of Lectures
    W151X, T93M, and V326L mutations in 2250. healthy individuals from ... quent null alleles (W151X, IVS8 1G>C). Using eight cSNPs in the DHCR7 gene haplo. types ...
    www.gfhev.de/abstracts_kongresse/2002Abstracts.pdf
  • European Journal of Human Genetics - Smith-Lemli-Opitz ...
    The European Journal of Human Genetics is the official Journal of the European Society of Human Genetics, publishing high-quality, original research papers, short ...
    www.nature.com/ejhg/journal/v16/n5/full/ejhg200810a.html
  • FWF Der Wissenschaftsfonds - Home
    Among 200 patients with the SLOS 73 different mutations in the DHCR7 gene have been observed. ... null mutations (IVS8-1G>C and W151X) associated with the most severe phenotypes ...
    www.fwf.ac.at/en/abstracts/abstract.asp?L=E&PROJ=P15480

Other in silico analyses
 

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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