biostudies-literatureGroopman ENHGRI NIH HHSNational Institutes of HealthNational Human Genome Research Institute108593https://www.ebi.ac.uk/biostudies/studies/S-EPMC11560485biostudies-literatureUnknown143(3)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 PanelMolecular genetics and metabolismAssessment of genes involved in lysosomal diseases using the ClinGen clinical validity framework.PMC11560485U24 HG009650U24HG006834U24HG009650U24 HG009649U24HG009649U24 HG006834Groopman ELiu HBaudet HMao RHung CPinto E Vairo FBali DGoldstein JChen HWeaver MCraigen WJWilke MClarke LWaddell AYuzyuk TMohan SRacacho LFernandez RfalseAssessment of genes involved in lysosomal diseases using the ClinGen clinical validity framework.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 Panel2024-01-01T00:00:00Z2024 Nov2026-06-05T09:33:31.115Z2026-05-15T03:12:35.925ZS-EPMC115604853942625110.1016/j.ymgme.2024.108593