DHCR7 Y280C - GET-Evidence

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

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Curation:
Currentness:

DHCR7 Y280C

(DHCR7 Tyr280Cys)


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

  • None available.

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 1.0 (probably damaging)
    Web search results (10 hits -- see all)
  • Rare Diseases Research Through Surveillance: The Canadian ...
    Canadian Paediatric Society and Health Canada, Ottawa, Canada ... Identified three new DHCR7 mutations (Y280C, I291T and W248R) in Canadian. patients. ...
    www.cps.ca/English/surveillance/cpsp/Publications/Spain.pdf
  • Smith-Lemli-Opitz Syndrome and the DHCR7 Gene
    The human DHCR7 gene is localised on chromosome 11q13 and its structure has been ... one different mutations in the DHCR7 gene have been published to date. ...
    www.slo-deutschland.de/pdf/jira2003.pdf
  • The Smith-Lemli-Opitz syndrome A multiple malformation ...
    DHCR7-enzyme activity has been studied in fibroblasts, liver microsomes and ... DHCR7 (Gen Bank accession number: AF034544) was identified in 1998 and assigned to ...
    jeroenboschziekenhuis.nl/jbz/.../Proefschrift_Petr_Jira.pdf
  • CPSP 2002 Results
    and spectrum of DHCR7 mutations in Canada. Waye JS, Nakamura LM, Eng B, Hunnissett L, ... 1G>C mutation of the DHCR7 gene in African- Americans. Wright BS, Nwokoro NA, Waye JS, ...
    www.cps.ca/english/surveillance/cpsp/studies/2002Results.pdf
  • CPSP 2002 Results
    and spectrum of DHCR7 mutations in Canada. Waye JS, Nakamura LM, Eng B, Hunnissett L, ... 1G>C mutation of the DHCR7 gene in African- Americans. Wright BS, Nwokoro NA, Waye JS, ...
    phac-aspc.gc.ca/publicat/.../pdf/cpsp-2002results-e.pdf
  • Résultats du PCSP 2002
    spectrum of DHCR7 mutations in Canada. Waye JS, Nakamura LM, Eng B, Hunnissett L, ... 1G>C mutation of the DHCR7 gene in African- Americans. Wright BS, ...
    phac-aspc.gc.ca/publicat/.../pdf/pcsp-resultats2002-f.pdf
  • DHCR7 - 7-dehydrocholesterol reductase
    Measurement of DHCR7 activity in CV cells was undertaken using ergosterol as a substrate. ... heterozygosity for IVS8-1G -->C and Y280C, a new missense mutation in DHCR7. ...
    www.ihop-net.org/UniPub/iHOP/gismo/87709.html
  • Smith-Lemli-Opitz syndrome: new mutation with a mild phenotype.
    www.ihop-net.org/UniPub/iHOP ... analysis demonstrated compound heterozygosity for IVS8-1G -->C and Y280C, a new missense mutation in DHCR7. Paper-9382620. ...
    www.ihop-net.org/UniPub/iHOP/pm/9382620.html?pmid=11857552
  • Nowaczyk, MJM (Małgorzata J M)
    Incidence of Smith-Lemli-Opitz syndrome in Canada: results of three-year population surveillance. De novo mutation of the DHCR7 gene in a fetus ...
    lib.bioinfo.pl/auid:1450800
  • Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal ...
    DHCR7 and Smith-Lemli-Opitz syndrome. Smith-Lemli-Opitz syndrome: new mutation with a ... C and demonstrated Y280C, a new missense mutation in DHCR7. Since the other mutation ...
    lib.bioinfo.pl/pmid:9714007

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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