RPE65 R234X - GET-Evidence

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

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Curation:
Currentness:

RPE65 R234X

(RPE65 Arg234Stop)


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 RPE65 gene
    Leber Congenital Amaurosis
    Retinitis Pigmentosa, Autosomal Recessive
    RPE65-Related Leber Congenital Amaurosis
    RPE65-Related Retinitis Pigmentosa
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RPE65
    Web search results (28 hits -- see all)
  • Retina International s Scientific Newsletter - RPE65 Mutations
    Mutations of the RPE65 Gene. Phenotype. Mutation. Basechange. Nucleotide ... the translation start site since RPE65 does not contain an untranslated first ...
    www.retina-international.com/sci-news/rpe65mut.htm
  • Retinal dystrophies caused by mutations in RPE65: assessment ...
    AIMS: To characterise the disease in patients with mutations in RPE65. ... heterozygote individuals from one family with R234X and 1121delA mutations showed nystagmus, macular ...
    www.ncbi.nlm.nih.gov/pubmed/11264131
  • Mendelian Inheritance in Man Document Reader
    Gu et al. (1997) analyzed RPE65 in a collection of about 100 ... a CpG site that resulted in a nonsense mutation, R234X (180069.0002). These mutations were inherited from the ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+180069
  • doi:10.1086/302335
    Segregation of RPE65 mutations in seven families in group LCA2. ... for RPE65 gene mutations by SSCP analysis and direct. sequencing in the eight families ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Genetics and Phenotypes of RPE65 Mutations in Inherited ...
    To characterize the spectrum of RPE65 mutations present in 453 patients with retinal ... The 14 exons of RPE65 were ampliļ¬ed by polymerase chain reaction (PCR) from ...
    www.iovs.org/cgi/reprint/41/13/4293.pdf
  • Genetics and Phenotypes of RPE65 Mutations in Inherited ...
    Genetics and Phenotypes of RPE65 Mutations in Inherited Retinal Degeneration ... The 14 exons of RPE65 were amplified by polymerase chain reaction ...
    www.iovs.org/cgi/content/full/41/13/4293
  • Safety and Efficacy of Gene Transfer for Leber's Congenital ...
    retinal pigment epitheliumā€“specific 65-kDa protein gene (RPE65) ... The LCA2 form of the disease is associated with mutations in RPE65, which en ...
    content.nejm.org/cgi/reprint/358/21/2240.pdf
  • Retinal dystrophies caused by mutations inRPE65: assessment ...
    Hamel, Christian P; Griffoin, Jean-Michel; Lasquellec, Laetitia; Bazalgette, Christian; Arnaud, Bernard ... null allele may reflect the decreased capacity in the RPE65 function. ...
    bjo.bmj.com/content/85/4/424.abstract
  • Complete report
    RPE65 A434V/hom. 13. USH2A V5145I/het. RGR S241F/het. USH2A V230M/het. PDE6A V391M/het. USH2A ... R234X. C/G. C/G. C/G. C/G. C/G. C/G. C/G. C/G. C/G. C/G. 347. RPE65. 7. 715 T>G ...
    www.asperbio.com/uploads/files/Report_sample_complete.xls
  • Gendia | Microarray Testing
    gendia is an international network consisting of more than 100 laboratories. Gendia currently offers close to 2000 genetic tests.
    www.gendia.net/t18_note4.html

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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