Curated disease‐causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH

Inherited bleeding, thrombotic, and platelet disorders (BTPD) are a heterogeneous set of diseases. The most common inherited bleeding disorders are von Willebrand disease (VWD) and hemophilia, although all other BTPDs are globally very rare, with mostly an unknown prevalence. Over the past five decades, the genetic basis of some of these disorders has been identified. Most of the genes harboring variants responsible for BTPD have been identified through linkage studies across informative pedigrees or using candidate gene Sanger sequencing following thorough clinical and laboratory workup.