Frankie Fann explores RUNX1 and its association with Familial Platelet Disorder with Associated Myeloid Malignancies in this Gene Scene.

Katherine Crawford, MS, GCG, covers the RET gene and its association with Multiple Endocrine Neoplasia and other diseases.

Connolly Steigerwald, MS, CGC, joins us in the Gene Scene to explore TGFBR2-related Loeys-Dietz syndrome.

The Gene Scene explores KCNQ1-related long QT Syndrome (LQTS), including autosomal dominant LQTS1, autosomal-recessive LQTS1 (AR-LQTS), and Jervell and Lange-Nielsen syndrome (JLNS)

The Gene Scene explores the gene-disease validity of MEN1. Pathogenic variants in this gene are known to cause multiple endocrine neoplasia type 1 (MEN1) and…

In this Gene Scene, Margo Gallegos, MS, CGC, discusses FOLR1, its link to cerebral folate transport deficiency, and new FDA statements about treating patients with…