The SAMD9/SAMD9L database describes all the pathogenic germline variants and the associated clinical phenotypes reported till date. The database is an initiative to serve the medical and research community by offering a comprehensive compilation of all known information about SAMD9 and SAMD9L genes. The collection of information contains genotype, phenotype, acquired somatic mutations, karyotypic changes, gnomAD population frequency, and functional relevance about mutations known to cause SAMD9/SAMD9L associated syndromes. This website has been created in December 2019 and will be continuously updated.
SAMD9 and SAMD9L (SAMD9/9L) genes are paralogue genes on chromosome 7q involved in viral host defense, endosome formation, and cellular proliferation. Germline mutations in both genes are associated with diverse clinical phenotypes and a risk for myelodysplastic syndromes with non-random loss of chromosome 7. The full clinical picture, penetrance, and clinical outcomes of patients are not well defined. Furthermore, the physiological function of SAMD9/9L genes, as well as the mechanistic link between germline mutations and disease remain elusive.
On November 1 – 2, 2019, we hosted a first international meeting on SAMD9/SAMD9L disorders that brought together the international body of SAMD9/SAMD9L experts to assemble a network of investigators who are focused on the study of these genes as well as associated syndromes. During this time, we listened to multiple presentations describing the current knowledge within the field and potential directions forward to answer the most pressing scientific questions. Additionally, clinicians from around the world described the clinical presentations of their SAMD9/9L patient cohorts. As a result, we facilitated a discussion on establishing expert recommendations on diagnosis, therapy and surveillance for these conditions.
A first step for better understanding of mutations found in patients was to develop a database with published and unreported mutations, with information on the functional aspects and prediction of pathogenicity.