POLG W1020X - GET-Evidence

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

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Curation:
Currentness:

POLG W1020X

(POLG Trp1020Stop)


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 POLG gene
    Progressive External Ophthalmoplegia with Mitochondrial DNA Dele
    Alpers-Huttenlocher Syndrome
    POLG-Related Disorders
    POLG-Related Sensory Ataxic Neuropathy, Dysarthria, and Ophthalm
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/POLG
    Web search results (10 hits -- see all)
  • POLG mutations in Alpers syndrome
    POLG mutations: 1) A467T/W1020X, 2) W748S-E1143G/G848S, 3) A467T ... mutant POLG alleles that cause Alpers syndrome are summarized. NEUROLOGY 2005;65:1493 ...
    www.haileyswish.org/file_download/8
  • Supplemental Online Material
    W1020X. A467T W1020X. POLG. A. 1. 2. Kindred A4. I. II. E1143G. W748S. POLG ... POLG. G848S. G848S. A467T. D. 1. 1. 2. 3. A467T. 2. 4. POLG. POLG. Supplemental Online Material ...
    www.neurology.org/cgi/data/01.wnl.0000182814.55361.70/DC1/1
  • POLG mutations in Alpers syndrome -- Nguyen et al., 10.1212 ...
    Affected individuals harbored the following combinations of POLG mutations: 1) A467T/W1020X, 2) W748S-E1143G/G848S, 3) A467T/A467T, and 4) A467T/G848S. ...
    neurology.org/cgi/content/short/...
  • OMIM 174763 - DNA polimerasi gamma
    La umano POLG cDNA, isolata da un cellule HeLa genoteca di cDNA, codifica a ... composta per 2 mutazioni nel gene POLG: a A467T e W1020X (174763.0017) ...
    www.fonama.org/i_omim/mito1/i_174763.html
  • Molecular diagnosis of Alpers syndrome
    Mutations in the gene for the mitochondrial DNA polymerase (POLG) have ... Methods: The POLG locus was sequenced in 15 sequential probands diagnosed with ...
    www.haileyswish.org/file_download/7
  • Mitochondriale Zythopathien
    Diese Dissertation ist auf den Internetseiten der Hochschulbibliothek online ... 1.2 Aufbau und Organisation der mitochondrialen DNA (mtDNA).6 ...
    darwin.bth.rwth-aachen.de/opus3/.../Haverkamp_Christian.pdf
  • polg-mitochondria citations
    Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound ... the following combinations of POLG mutations: 1) A467T/W1020X, 2) W748S-E1143G ...
    www.mitochondrial.net/showcitationlist.php?keyword=polg
  • OMIM: 174763
    The human POLG cDNA, isolated from a HeLa cell cDNA library, encodes a predicted ... compound heterozygosity for 2 mutations in the POLG gene: a A467T and W1020X (174763.0017) ...
    www.genome.jp/dbget-bin/www_bget?omim+174763

Other in silico analyses
 

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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