PHKG2 L225R - GET-Evidence

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

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Curation:
Currentness:

PHKG2 L225R

(PHKG2 Leu225Arg)


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 (24 hits -- see all)
  • PHKG2 - Wikipedia, the free encyclopedia
    Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R)". J. Med. Genet. ...
    en.wikipedia.org/wiki/PHKG2
  • Phosphorylase kinase deficient liver glycogenosis ...
    Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R) ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1734590
  • Liver glycogenosis due to phosphorylase kinase deficiency ...
    ... rare, this finding suggests that PHKG2 mutations are associated with an increased cirrhosis risk. ... to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R) ...
    hmg.oxfordjournals.org/cgi/content/abstract/7/1/149
  • Autosomal glycogenosis of liver and muscle due to ...
    Email this article to a friend. Similar articles in this journal. Similar articles in ISI ... to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R) ...
    hmg.oxfordjournals.org/cgi/content/abstract/6/7/1109
  • Mendelian Inheritance in Man Document Reader
    They found homozygous PHKG2 mutations in 3 patients of consanguineous parentage ... to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R) ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+172471
  • Papers by Tanner MS | Labmeeting
    Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R). - cite this + cite this ...
    www.labmeeting.com/papers/author/tanner-ms
  • Årsbok-first pages
    Klas Flärdh: Growth Polariaty, Cell Division, and Differentiation in. Streptomyces ... Diarmaid Hughes: Genetics, Physiology, and Fitness:The Evolution and ...
    www.icm.uu.se/Documents/Yearbook2002.pdf
  • J Med Genet — 1 May 2000, Volume 37, Number 5 - TOC
    See the May 2000, Volume 37, Number 5 table of contents and sign up to receive a TOC email alert. ... to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R) ...
    jmg.bmj.com/content/37/5.toc
  • Author index
    An international peer-reviewed journal for health professionals and researchers in all areas of genetics ... with PHKG2 mutations (H144Y and L225R) J Med Genet 2000;37:376-377 ...
    jmg.bmj.com/content/37/5/by/author
  • Publications, Manfred W Kilimann
    ... in infancy associated with PHKG2 mutations (H144Y and L225R) J. Med. ... glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with ...
    www.icm.uu.se/molcell/index.php?pid=25

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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