EDNRB R201X - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

EDNRB R201X

(EDNRB Arg201Stop)


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

  • A @ chr13:78477491: 0.0% (1/10758) in EVS
  • Frequency shown in summary reports: 0.0% (1/10758)

Publications
 

Genomes
 

Other external references
 

    GeneTests
  • GeneTests records for the EDNRB gene
    Hirschsprung Disease
    Waardenburg Syndrome Type IV
    EDNRB-Related Hirschsprung Disease
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/EDNRB
    OMIM
  • Abcd syndrome
    www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131244
    Web search results (22 hits -- see all)
  • ABCD syndrome is caused by a homozygous mutation in the EDNRB ...
    ABCD syndrome is caused by a homozygous mutation in the EDNRB gene. ... A homozygous nonsense mutation in exon 3 (R201X) of the EDNRB gene was found. ...
    www.ncbi.nlm.nih.gov/pubmed/11891690
  • ABCD syndrome revisited Kothari PR, Sarda D, Shankar G ...
    Indian J Hum Genet, Official Journal of the Indian Society of Human Genetics. ... It is due to homozygous mutation in exon 3 (R201X) of the EDNRB gene. Case Report ...
    ijhg.com/article.asp?issn=0971-6866;year=2006;volume=12;i...
  • Bioline International Official Site (site up-dated regularly)
    It is due to homozygous mutation in exon 3 (R201X) of the EDNRB gene. ... to homozygous nonsense mutation in exon 3 (R201X) of the EDNRB gene. ...
    www.bioline.org.br/request?hg06027
  • April 2008 | Curious? Read
    They say laughter is the best medicine; that's good news for the sufferers of ... who has a homozygous nonsense mutation in exon 3 (R201X) of the EDNRB gene ...
    www.curiousread.com/2008_04_01_archive.html
  • Six Diseases & Infections You Don't Want - Page 2 ...
    I've had friends and family with diseases like cancer, lupus, bipolar, and diabetes, but I've never known anyone with a disease I could laugh at...
    www.divinecaroline.com/22322/48723/2
  • Fine Lifestyles: 05/02/08
    With air traffic controllers having operated for more than 600 days without a ... who has a homozygous nonsense mutation in exon 3 (R201X) of the EDNRB gene ...
    livingitfine.blogspot.com/2008_05_02_archive.html
  • Email Bookmarking: 4/1/08 - 5/1/08
    Well guys, with the year dawning towards the end, here we present the most ... who has a homozygous nonsense mutation in exon 3 (R201X) of the EDNRB gene ...
    emailbookmarking.blogspot.com/2008_04_16_archive.html
  • EDNRB
    EXON. ETHNICITY (Number of families) REFERENCES. EDNRB. Hirschsprung Disease -26G>A. 5' UTR ... R201X. C>T. exon 3. Kurdish (1) Verheij 2002* *Denoted as ABCD syndrome ...
    hearing.harvard.edu/genepages/ednrbdream.htm
  • ednrb.xls
    (Number of families) REFERENCES. 2. EDNRB. Hirschsprung Disease -26G>A ... R201X. C>T. exon 3. Kurdish (1) Verheij 2002* 27 *Denoted as ABCD syndrome. 28. R253X. C>T. exon ...
    www.hpcgg.org/LMM/SeparatePages/ednrb.xls
  • Gene information
    1910. Organism. Homo sapiens. Gene Symbol. EDNRB. Gene Name. endothelin receptor type B ... mutation in exon 3 (R201X) of the EDNRB gene, a gene known to be involved in ...
    bioinfo.vanderbilt.edu/webgestalt/llid_info.php?llid=1910

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in