Assessment of genes involved in lysosomal diseases using the ClinGen clinical validity framework.

ABSTRACT: Lysosomal diseases (LDs) are a heterogeneous group of rare genetic disorders that result in impaired lysosomal function, leading to progressive multiorgan system dysfunction. Accurate diagnosis is paramount to initiating targeted therapies early in the disease process in addition to providing prognostic information and appropriate support for families. In recent years, genomic sequencing technologies have become the first-line approach in the diagnosis of LDs. Understanding the clinical validity of the role of a gene in a disease is critical for the development of genomic technologies, such as which genes to include on next generation sequencing panels, and the interpretation of results from exome and genome sequencing. To this aim, the ClinGen Lysosomal Diseases Gene Curation Expert Panel

SUBMITTER: Groopman E 

PROVIDER: S-EPMC11560485 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature