Rhabdoid Tumor Predisposition Syndrome 2 (RTPS2, OMIM #613325) is caused by heterozygous germline mutations in the SMARCA4 gene, which maps to chromosome 19p13 (6) and encodes a protein involved in the transcription activator BRG1, a catalytic component of the ATP-dependent SWI/SNF chromatin remodeling complex (30). This evidence concerns the gene SMARCA4 and rhabdoid tumor predisposition syndrome 2.