SHH W128X - GET-Evidence

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

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Curation:
Currentness:

SHH W128X

(SHH Trp128Stop)


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 (11 hits -- see all)
  • Orphanet Journal of Rare Diseases | Full text | Solitary ...
    Missense mutation in the SHH gene (I111F) at 7q36 may be associated with SMMCI. ... nonsense mutation in SHH at codon 128 (W128X), which caused autosomal dominant ...
    www.ojrd.com/content/1/1/12
  • Solitary median maxillary central incisor (SMMCI) syndrome
    Missense mutation in the SHH gene (I111F) at 7q36 may be associated with SMMCI. ... nonsense mutation in SHH at codon 128 (W128X), which caused autosomal dominant ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1464380
  • Solitary median maxillary central incisor (SMMCI) syndrome
    Missense mutation in the SHH gene (I111F) at 7q36 may be associated with SMMCI. ... nonsense mutation in SHH at codon 128 (W128X), which caused autosomal dominant ...
    biomedcentral.com/content/download/xml/1750-1172-1-12.xml
  • COPYRIGHTED MATERIAL
    R117C/W128X, 23. Sandhoff disease, 23. INDEX. 501. spinal muscular atrophy, 23. thalassaemia ... Shh (sonic hedgehog), 210. shRNA, 255, 392. sickle cell anemia, 355 ...
    media.wiley.com/product_data/excerpt/31/.../0470146931-1.pdf
  • Solitary Median Maxillary Central Incisor (SMMCI) syndrome
    Missense mutation in the SHH gene (I111F) at 7q36 may be associated with SMMCI. ... mutation in SHH at codon 128 (W128X), which. caused autosomal dominant HPE (ADHPE) ...
    www.orpha.net/data/patho/GB/uk-SMMCI-2005.pdf
  • Solitario mediana de los incisivos centrales maxilares (SMMCI ...
    Artículo de viaClínica: Solitario mediana de los incisivos centrales maxilares (SMMCI), síndrome ... anteriormente en SHH mutación en el codón 128 (W128X), que causó ...
    viaclinica.com/article.php?pmc_id=1464380
  • Solitary Median Maxillary Central Incisor (SMMCI) syndrome
    ... missense mutation in the Sonic Hedgehog SHH gene (I111F) at 7q36 may ... undescribed nonsense mutation in SHH at. codon 128 (W128X), which caused autosomal. dominant HPE (ADHPE) ...
    www.orpha.net/data/patho/GB/uk-SMMCI.pdf
  • Ravazzolo, R (Roberto)
    Ravazzolo, R (Roberto) :: A rare haplotype of the RET proto-oncogene is a risk-modifying ... undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly ...
    lib.bioinfo.pl/auid:1366959
  • Holoprosencephaly :: pathology
    BioInfoBank Library :: Holoprosencephaly :: pathology :: [Middle ... mutations were identified (16%): 15 SHH mutations, 6 ZIC2 mutations, 5 SIX3 mutations, and 2 TGIF mutations. ...
    lib.bioinfo.pl/meid:234992
  • UNIVERSIDADE ESTADUAL PAULISTA
    da sinalização do SHH no crescimento do processo frontonasal de galinha inibe ... resultados sugerem que mutações no gene SHH em indivíduos portadores de ...
    ibb.unesp.br/posgrad/teses/genetica_me_2008_claudia_berto...

Other in silico analyses
 

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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