Pompe disease GAA variant database

Variants

GAA and part of CCDC40
Ch37/hg19:g.78,056,048_ 78,094,854delins14bp
r.(-212_*551del)
p.(0)
Deletion
Deletion
Deletion (whole gene)
Pathogenic
Very severe
Classic infantile
Negative
MAF not reported
no effect on splicing - deletion of whole GAA gene
deletion of whole GAA gene
protein is not expressed

The Pompe disease GAA variant database represents an effort to collect all known variants in the GAA gene and is maintained and provide by the Pompe center, Erasmus MC.

We kindly ask you to reference one of the following articles if you use this database for research purposes:

de Faria, DOS, in 't Groen, SLM, Bergsma, AJ, et al. Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.
Human Mutation. 2021; 42: 119-134. https://doi.org/10.1002/humu.24148

Niño, MY, in 't Groen, SLM, Hoogeveen-Westerveld, M, et al. Extension of the Pompe mutation database by linking disease‐associated variants to clinical severity. Human Mutation. 2019; 40: 1954–1967. https://doi.org/10.1002/humu.23854


www.pompecenter.nl