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…

The Gene Scene covers the GLA gene and its association with Fabry disease.

The Gene Scene covers ACTA2. Pathogenic alterations in this gene have been associated with ACTA2-related vascular disorders, including familial thoracic aortic aneurysms and dissections (TAAD)…

In this week’s Gene Scene, Grant Bonesteele, MS, CGC, spotlights COL3A1and its association with Ehlers-Danlos Syndrome and Multiple Congenital Anomalies Syndrome.