GALC G270D - 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:

GALC G270D

(GALC Gly270Asp)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(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 (15 hits -- see all)
  • GALC - galactosylceramidase - Genetics Home Reference
    The GALC gene is also known by other names, listed below. What is the normal function of the GALC gene? ... acid at position 270 in the enzyme (written as Gly270Asp or G270D) ...
    ghr.nlm.nih.gov/gene=galc
  • Galactosylceramidase (GALC) - Medpedia
    Krabbe disease - caused by mutations in the GALC gene More than 70 GALC mutations ... acid at position 270 in the enzyme (written as Gly270Asp or G270D) ...
    wiki.medpedia.com/Galactosylceramidase_(GALC)
  • Adult onset globoid cell leukodystrophy (Krabbe disease ...
    G270D, L618S, and exon-6 skipping (535-573del), produced diminished GALC activity as expected. ... causes conformational change in the GALC enzyme, resulting in low enzymatic ...
    www.ncbi.nlm.nih.gov/pubmed/9272171
  • Six novel mutations detected in the GALC gene in 17 Japanese ...
    It is caused by a deficiency of galactocerebrosidase (GALC) activity. ... With two additional mutations, G270D and T652P, these account for up to 57% of genetic ...
    www.ncbi.nlm.nih.gov/pubmed/16607461
  • G270D - Association Maladies Orphelines Midi-Pyrénées [BLOG]
    ont analysé les mutations de GALC chez 17 patients japonais. ... phénotype : les mutations I66M+1289M, G270D, et L168S sont associées à un phénotype modéré. ...
    blog.amomp.com/index.php?tag/G270D
  • Newborn Screening for Krabbe Disease in Newborn Screening for ...
    (GALC) (GALC) Mutations in. GALC. Decreased ability to degrade galactolipids. Decreased ... c.809G>A (p.G270D) c.1538C>T (p.T513M) c.1652A>C (p.Y551S) c.1424delA ...
    aphl.org/profdev/conferences/.../NBS_for_Krabbe_Disease.pdf
  • UKE - Institut für Humangenetik - Krankheitsgene (Diagnostik)
    Spät-manifester Typ: Die Mutation c.809G>A (p.G270D) stellt etwa 50% der Krankheitsallele dar. Diagnostik ... eine Aktivitätsbestimmung der GALC in einem hierfür akkreditierten ...
    www.uke.de/institute/humangenetik/index_60148.php
  • 氏 名
    We evaluated the GALC gene in 17 Japanese patients, classifying mutations as ... mutations, G270D and L618S, similar concordance is shown, demonstrating that it ...
    www.library.osaka-u.ac.jp/others/tmp/88/igakukatei1.pdf
  • Ela España Información Nº5
    codificada por el gen GALC. El Doctor Xu y sus. colaboradores ... G270D y L168S se asocian a. un fenotipo moderado. Journal of Human Genetics · 51 (6): 548 ...
    www.zemos98.org/elaespana/IMG/pdf_No_4_Enero_2007_.pdf
  • II Congress on rare diseases. Genetic disorders related to ...
    with the identical GALC genotype, including G809A in one allele and ... The human GALC cDNA has been placed in several viral vectors and these have ...
    www.iss.it/binary/publ/publi/0069.1110197446.pdf

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in