SIX1 W122R - GET-Evidence

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

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Curation:
Currentness:

SIX1 W122R

(SIX1 Trp122Arg)


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
 

    GeneTests
  • GeneTests records for the SIX1 gene
    Branchiootorenal Spectrum Disorders
    Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant
    DFNA23 Nonsyndromic Hearing Loss and Deafness
    SIX1-Related Branchiootorenal Spectrum Disorders
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SIX1
    PolyPhen-2
  • Score: 0.984 (probably damaging)
    Web search results (5 hits -- see all)
  • European Journal of Human Genetics - Branchio-oto-renal ...
    Branchio–oto–renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by ... tryptophan for arginine in position 122 of SIX1 (p.W122R) (Figure 2a) ...
    www.nature.com/ejhg/journal/v15/n11/full/5201900a.html
  • Branchio-oto-renal syndrome: detection of EYA1 and SIX1 ...
    Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by ... IVS12+4A>G and p.Y591X) and one SIX1 mutation (p.W122R), providing a ...
    www.ncbi.nlm.nih.gov/pubmed/17637804
  • European Journal of Human Genetics - Abstract of article ...
    Branchio–oto–renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by ... IVS12+4A>G and p.Y591X) and one SIX1 mutation (p.W122R), providing a ...
    www.nature.com/ejhg/journal/v15/n11/abs/5201900a.html
  • EYA1 - eyes absent homolog 1 (Drosophila)
    Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by ... SIX1 mutation (p.W122R), providing a molecular diagnosis in five out ...
    www.ihop-net.org/UniPub/iHOP/gs/88092.html
  • A human homologue of the Drosophila eyes absent gene ...
    Lastly we show that Six1 genetically interacts with Jag1.glutamic We propose that the ... and p.Y591X) and one SIX1 mutation (p.W122R), providing a molecular diagnosis in five ...
    lib.bioinfo.pl/pmid:9020840

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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