The Lysosomal Diseases GCEP will use the ClinGene Gene-Disease Clinical Validity framework to assess clinical validity for genes involved in lysosomal diseases, including lysosomal storage disorders and other conditions resulting from lysosomal dysfunction. The experts in the Lysosomal Diseases GCEP are extensively versed in a range of metabolic diseases, including those that are under the purview of this GCEP. Some members of the group participate in other ClinGen GCEPs and, therefore, already have a working knowledge of the gene-disease clinical validity framework. Should it be necessary, additional experts outside the group will be consulted by the Lysosomal Diseases GCEP to advise or join as needed. In addition, the group will consult with the ClinGen Gene Curation WG and Lumping and Splitting WG if necessary.

The proposed gene list is based on the “Official List of Lysosomal Diseases'' developed by the WORLDSymposia (https://worldsymposia.org/official-list-of-lysosomal-diseases/), an international forum dedicated to research on lysosomal diseases. Additional genes, such as those involved in lysosome acidification, may be added in the future. Of note, the name of this GCEP is based on the nomenclature used by the WORLDSymposia i.e. Lysosomal Diseases.