NEU1 W23X - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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Curation:
Currentness:

NEU1 W23X

(NEU1 Trp23Stop)


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)
  • Medline ® Abstract for Reference of 'Postnatal care of ...
    Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of ... R341G), and c.69G>A (p.W23X). We have used our findings and ...
    uptodate.com/patients/content/abstract.do?...&refNum=53
  • Five novel mutations in the lysosomal sialidase gene (NEU1 ...
    Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of ... R341G), and c.69G>A (p.W23X). We have used our findings and ...
    www.ncbi.nlm.nih.gov/pubmed/14695530
  • PubMed: 14695530
    Type II sialidosis is a rare disease characterized clinically by hydrops fetalis, ... sialidosis patients was screened for mutations within the sialidase gene NEU1. ...
    www.genome.jp/dbget-bin/www_bget?pubmed+14695530
  • OMIM: 608272
    Neu1 -/- mice show features of human sialidosis and develop a ... found a trp23-to-stop (W23X) nonsense mutation of the NEU1 gene. One child died at age ...
    www.genome.jp/dbget-bin/www_bget?omim+608272
  • Search Medical and Societal References - esrnexus
    ESRNexus is a publicly searchable online medical and societal reference library that is ... mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and ...
    www.esrnexus.com/advsearch.aspx?txtAuthor=Rupar

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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