DHCR7 T93M - GET-Evidence

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

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Curation:
Currentness:

DHCR7 T93M

(DHCR7 Thr93Met)


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

  • A @ chr11:71155082: 0.0% (1/10758) in EVS
  • Frequency shown in summary reports: 0.0% (1/10758)

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.942 (probably damaging)
    Web search results (144 hits -- see all)
  • Noteworthy Articles - Neurobiology of Lipids (ISSN 1683-5506)
    This has not been observed in human patients, and is due to elevated Dhcr7 expression in mouse tissues. ... Expression of Dhcr7 increased in Dhcr7(T93M/Delta3-5) tissues after ...
    neurobiologyoflipids.org/noteworthy/2007/11/...
  • Development and characterization of a hypomorphic Smith ...
    Figure 1. Targeted insertion of the T93M mutation into Dhcr7 and phenotypic findings. ( A) Schematic representation of the Dhcr7 genomic structure (NCBI ...
    hmg.oxfordjournals.org/cgi/reprint/15/6/839.pdf
  • Development and Characterization of a Hypomorphic Smith-Lemli ...
    T93M mutation is located in the N-terminal domain of DHCR7. ... Figure 1. Targeted insertion of the T93M mutation into Dhcr7 and phenotypic. findings ...
    hmg.oxfordjournals.org/cgi/reprint/ddl003v1.pdf
  • Development, characterization, and treatment of a hypomorphic ...
    DHCR7 is 278C>T (T93M). Dietary cholesterol supplementation has been ... Phenotypically T93M/T93M and T93M/null mice have mild dilatation of the third ...
    www.simd.org/Awards/SIMD-2004-Abstract_59.pdf
  • 7-dehydrocholesterol reductase (DHCR7) - Medpedia
    The information on this page is seed content provided by an organization. ... Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome. ...
    wiki.medpedia.com/7-dehydrocholesterol_reductase_(DHCR7)
  • DHCR7 - References - Genetics Home Reference
    Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome. ... Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz ...
    ghr.nlm.nih.gov/gene=dhcr7/show/References
  • Unit on Molecular Dysmorphology
    To date, over 100 mutations of DHCR7 have been identified. ... T93M mutation is the second most common mutation found in human patients. Dhcr7T93M/T93M ...
    2005annualreport.nichd.nih.gov/hdb/umd.htm
  • Unit on Molecular Dysmorphology
    To date, over 100 different mutations of DHCR7 have been identified. ... and a conditional Dhcr7 mutant allele (Dhcr7 loxPΔ3-5loxP). The T93M mutation is the ...
    2004annualreport.nichd.nih.gov/hdb/umd.htm
  • WikiGenes - Zocor - [(1S,3R,7R,8S,8aS)-8-[2-[(2R,4R)-4-hydroxy...
    The world's first wiki where authorship really matters. Due credit and reputation for authors. Imagine a ... Expression of Dhcr7 increased in Dhcr7(T93M/Delta3-5) tissues after ...
    www.wikigenes.org/e/chem/e/54454.html
  • Waye
    Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome. ... ethnic distribution of the common DHCR7 mutation in the Smith-Lemli ...
    fhs.mcmaster.ca/pathology/.../faculty/faculty_bios/waye.html

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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