FOXG1 W255X - GET-Evidence

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

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Curation:
Currentness:

FOXG1 W255X

(FOXG1 Trp255Stop)


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 (5 hits -- see all)
  • REPORT FOXG1 Is Responsible for the Congenital Variant of ...
    FOXG1 encodes a brain-speciļ¬c transcriptional repressor that is ... The p.W255X mutation determines a protein truncation just. after the second beta strand ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • FOXG1 is responsible for the congenital variant of Rett syndrome.
    FOXG1 is responsible for the congenital variant of Rett syndrome. ... Two were de novo truncating mutations (p.W255X and p.S323fsX325) and one was a missense ...
    www.ashg.org/2008meeting/abstracts/fulltext/f21553.htm
  • OMIM: 164874
    The N-terminal domain of mammalian FOXG1 contains an extended proline- and ... the FOXG1 gene, resulting in a trp255-to-ter (W255X) substitution and ...
    www.genome.jp/dbget-bin/www_bget?omim+164874
  • RTT Science Watch
    Two were de novo truncating mutations (p.W255X and p.S323fsX325) and one was a ... FOXG1 encodes a protein that is highly expressed and plays an essential role ...
    www.rsrt.org/rttsciencewatch/2008/11-17.html

Other in silico analyses
 

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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