Pompe disease GAA variant database

ErasmusMC Rotterdam.

The Pompe disease GAA variant database is a coordinated effort to collect variants in the GAA gene, and provide the appropriate data which will lead to a better understanding of the disease-associated variants causing Pompe disease.

The main page lists all the variants currently known in the GAA gene and provides general information about each variants as well as its pathogenicity. To make this database more serviceable we provided additional data and information about a variant in several sections.

  • A. More information about a specific variant or biochemical data when available are listed in the "Variant info" window next to each variant.

  • B. If patients with this variant have been reported in literature, it is possible to find patient specific information in the "Patients" window. In this window we listed basic information about a patient as well as any symptoms and the genotype as reported in the cited literature.

To make this database more serviceable, we included several options which make it possible to analyze the dataset or a set of variants/ patients based on your own criteria.

  • A. This link brings you back to the main page of this database, which provides general information about the variants listed.

  • B. It is possible to select a more specific subset of variants or patients using the “advanced search” option. Here you can obtain a list of variants based on your own criteria such as: type of variant, location, severity, etc. The same can be obtained for the patients listed in this database based on the reported phenotype.

  • C. In addition to a list of variants which are in turn linked to a variant we also included a list of all patients included in this database. The patient window has been extended with different search options such as patient phenotypes and the Region of origin.

  • D. It is possible to export this database as a dataset or excel file containing your selection of variants or the whole database.

This database presents a continuous effort to increase our understanding of the variants causing Pompe disease. Your help in expanding this database would be greatly appreciated. As this project is based on analyzing published literature it would be of service that, if you find some information lacking or incorrect, you contact us to help us improve it.

It is possible to contact the administrators of the Pompe disease GAA variant database using: pompe.database@erasmusmc.nl