Even if the genetic defect is discovered, it can take several years to understand the disease as illustrated for SRC-related thrombocytopenia.154Five years after the discovery of the SRC gain-of-function variant E527K, the same variant was detected in other pedigrees that helped to delineate the syndromic phenotype associated with thrombocytopenia and RNAseq provided evidence for defective interferon regulation as underlying cause.154Still many patients do not receive a diagnosis even though their complete genome has been analyzed. Here, SRC is linked to Thrombocytopenia.