MED12 R961W - GET-Evidence

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

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Curation:
Currentness:

MED12 R961W

(MED12 Arg961Trp)


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
 

    Web search results (177 hits -- see all)
  • FG Syndrome (MED12) R961W Mutation
    MED12 R961W mutation does not. rule out a diagnosis of FG syndrome, since MED12 mutations ... mutations other than R961W are not evaluated by this assay. ...
    aruplab.com/.../FG Syndrome (MED12) R961W Mutation.pdf
  • FG Syndrome, FGS1 (MED12) R961W Mutation : ARUP Lab Tests
    Can be in any position in the term and matches any number of characters. ... FG Syndrome, FGS1 (MED12) R961W Mutation : 0051752. Patient History for FG Syndrome ...
    www.aruplab.com/guides/ug/tests/0051752.jsp
  • A recurrent mutation in MED12 leading to R961W causes Opitz ...
    A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. ... (2881C>T, leading to R961W) in MED12 (also called TRAP230 or HOPA), a gene located at Xq13 ...
    www.ncbi.nlm.nih.gov/pubmed/17334363
  • Behavior of 10 patients with FG syndrome (Opitz-Kaveggia ...
    Males with this MED12 mutation had deficits in communication skills compared to ... importance of testing for the p.R961W MED12 mutation in males who are suspected ...
    www.ncbi.nlm.nih.gov/pubmed/18973276
  • A recurrent mutation in : : MED12: : leading to R961W causes ...
    Nature Genetics publishes the very highest quality research in genetics. ... A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome ...
    www.nature.com/ng/journal/v39/n4/abs/ng1992.html
  • Opitz-Kaveggia (FG) syndrome revisited: The clinical ...
    Opitz-Kaveggia (FG) syndrome revisited: The clinical phenotype in 10 affected males with MED12 mutation R961W. R.D. Clark1, J.M. Graham2, R.E. ...
    www.ashg.org/genetics/ashg07s/f10565.htm
  • WikiGenes - MED12 - mediator complex subunit 12
    The world's first wiki where authorship really matters. Due credit and reputation for ... A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. ...
    www.wikigenes.org/e/gene/e/9968.html
  • Behavioral features in patients with FG (Opizt-Kaveggia ...
    J. Graham1, J. Visootsak2, E. Dykens3, R. Clark4, K. Jones5, J. ... in exon 21 of MED12 causing tryptophan to replace arginine at amino acid 961 (p.R961W) in 6 families ...
    www.ashg.org/genetics/ashg07s/f10092.htm
  • MED12 - NextBio
    A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. ... Thought leaders and organizations working on research involving MED12. ...
    www.nextbio.com/b/search/ov/MED12
  • Clinical Experience in the Evaluation of 30 Patients with a ...
    In 2007, a recurrent R961W mutation in the MED12 gene at Xq13 was found to cause ... The R961W mutation was identified in the only patient who had the typical ...
    jmg.bmj.com/content/early/2008/09/19/...

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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