WilsonGen

WilsonGen provides a curated, clinically annotated catalog of ATP7B gene variants associated with Wilson's disease to support diagnostic interpretation and research.

Key Features:

• Curated variant collection: Manual curation of genetic variant data from literature and various data resources.
• ACMG & AMP classification: Systematic annotation and pathogenicity classification using American College of Medical Genetics (ACMG) & Association for Molecular Pathology (AMP) guidelines.
• Variant counts: Contains 3,662 genetic variants associated with Wilson's disease, including 1,458 unique entries and 656 variants classified as pathogenic or likely pathogenic.
• ATP7B protein mapping: Includes detailed mappings of pathogenic variants to the ATP7B protein derived from literature and other databases.
• Geographical distribution: Provides annotations of geographical origin and distribution of pathogenic variants across ethnic and geographical populations.

Scientific Applications:

• Clinical diagnosis and interpretation: Supports clinicians and geneticists in diagnostic interpretation and evidence-based clinical decision-making for Wilson's disease.
• Genetic research: Facilitates research into the genetic underpinnings and variant pathogenicity of ATP7B in Wilson's disease.
• Population and epidemiological analysis: Enables analysis of geographic and ethnic distribution and prevalence of ATP7B pathogenic variants.

Methodology:

Manual curation of genetic variant data from literature and various data resources; systematic annotation and classification of variants using ACMG & AMP guidelines; mapping of pathogenic variants to the ATP7B protein and recording of geographical origin and distribution from literature and databases.