PHKG2 H144Y - 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.

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Curation:
Currentness:

PHKG2 H144Y

(PHKG2 His144Tyr)


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 (25 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/pubmed/10905889
  • :: DatasheetPro :: View H144Y datasheet :: Santa Cruz ...
    [PDF Download] H144Y datasheet - SANTA CRUZ BIOTECHNOLOGY, INC.PHKG1 (I-17): sc-130 - SANTA CRUZ ... H144Y, INC.PHKG1, PHKG1, PHKG169, PHKG1shRNA, PHKG2 ...
    www.datasheetpro.com/1482031_view_H144Y_datasheet.html
  • 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
  • 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
  • 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
  • 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
  • Publications, Manfred W Kilimann
    UU : Science & Technology : ICM : Molecular Cell Biology. Publications, Manfred W Kilimann ... to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R) ...
    www.icm.uu.se/molcell/index.php?pid=25
  • 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

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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