Pompe

Pompe catalogs genetic variants in the acid α-glucosidase (GAA) gene associated with Pompe disease to support variant interpretation and genotype–phenotype analysis.

Key Features:

• Comprehensive Variant Collection: The database includes 648 known disease-associated GAA variants reported up to 2020.
• Common Sequence Variants: The database catalogs 148 common GAA sequence variants that are not associated with Pompe disease.
• Newborn Screening Variants: The database lists 26 GAA variants identified through newborn screening programs with unknown severity.
• In Silico Predictions and Clinical Phenotypes: The database integrates in silico predictions with clinical phenotype data reported through 2016.
• Expression Studies for Missense Variants: Expression studies for common missense variants are included to inform predictions of variant severity.
• Curation and Provenance: Variant entries are curated and maintained by the Pompe Center at Erasmus MC.

Scientific Applications:

• Genetic Counseling: Provides detailed variant information to support genetic counseling for Pompe disease.
• Genotype–Phenotype Research: Facilitates research into genotype–phenotype correlations for GAA mutations.
• Newborn Screening Interpretation: Assists interpretation of variants identified through newborn screening and highlights variants of unknown severity.
• Personalized Treatment Development: Supports development of personalized treatment strategies by linking variants to clinical phenotypes and functional data.

Methodology:

Variant entries are curated and periodically updated to incorporate published GAA variants, newborn-screening data, in silico predictions, clinical phenotype reports, and expression study results.