PEX7 L292X - 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:

PEX7 L292X

(PEX7 Leu292Stop)


Short summary

Rhizomelic Chondrodysplasia Punctata Type 1

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

recessive

Summary of published research, and additional commentary

 

Allele frequency

  • A @ chr6:137219351: 0.0% (5/10758) in EVS
  • Frequency shown in summary reports: 0.0% (5/10758)

Publications
 

Genomes
 

Other external references
 

    Web search results (36 hits -- see all)
  • Mutation analysis of PEX7 in 60 probands with rhizomelic ...
    PEX7 encodes the cytosolic receptor for the set of peroxisomal matrix ... work we described three novel PEX7 mutant alleles, including one, L292X, with a high frequency due to ...
    cat.inist.fr/?aModele=afficheN&cpsidt=13976101
  • Mutational Spectrum in the PEX7 Gene and Functional Analysis ...
    Mutational Spectrum in the PEX7 Gene and Functional Analysis of Mutant ... homozygous for the L292X mutation. A, Expression of control PEX7 resulted in punctate ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • JOURNAL OF
    The common PEX7-L292X allele, whose high frequency is due to a founder effect in ... Key words: chondrodysplasia punctata, India, mutation, PEX7 ...
    jag.igr.poznan.pl/2010-Volume-51/1/abstracts/552.html
  • Mendelian Inheritance in Man Document Reader
    A PEX7 mutation (leu292 to ter) cosegregated with the disease, and expression of PEX7 in ... Motley et al. (2002) found the L292X mutation to be by far the most common mutation ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+601757
  • Mutational Spectrum in the PEX7 Gene and Functional Analysis ...
    Mutational Spectrum in the PEX7 Gene and Functional Analysis of ... As the common L292X nonsense mutation does not lead to functional peroxin 7, the ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC384941
  • PEX7 - peroxisomal biogenesis factor 7 - Genetics Home Reference
    The PEX7 gene is also known by other names, listed below. What is the normal function of ... Mutations in the PEX7 gene cause less than 10 percent of all cases of ...
    ghr.nlm.nih.gov/gene=pex7
  • Mendelian Inheritance in Man Document Reader
    ... found 2 inactivating PEX7 mutations: the first, L292X (601757.0001), was present ... Like S. cerevisiae pex7 cells, RCDP cells from CG11 cannot import a PTS2 reporter protein. ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+215100
  • DNA BASED MUTATION ANALYSIS FOR X
    Without a functional PEX7, these enzymes are mislocalized to the ... of PEX7 mutation analysis: RCDP1 patients: Two common alleles are associated with exon 9: (1) L292X, 67% of ...
    www.genetics.kennedykrieger.org/PeroxisomalFormInfo.htm
  • J Appl Genet RSS
    The common PEX7-L292X allele, whose high frequency is due to a founder effect in ... which was present on a single PEX7 haplotype and could represent a common allele ...
    medworm.com/rss/search.php?qu=J+...+Genet&s=Search&f=source
  • Condition
    6q22/PEX7. L292X accounts for 51% AR. Deficiency of peroxisomal target signal 2 – PTS2 ... Sequencing of PEX7 available. Zellweger (spectrum with neonatal adrenal leukodystrophy ...
    wikigenetics.org/images/f/f9/Table_of_genetic_conditions.doc

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in