Caitlin Reid, MS, LGC, explores RB1 and its association with RBI-related retinoblastoma in this weekly snapshot of clinically actionable genes from the ACMG Secondary Findings…

A rare disease mother shares her son’s story of TBC1D24 disorder, a condition so rare that most families don’t hear its name until it becomes…

Brooke Sample, MS, CGC, covers he RPE65 gene, which is critical for the “visual cycle”—the process of regenerating light-sensitive pigments in the eye. Mutations in…

This Gene Scene covers pathogenic variants in LMNA, which are associated with more than 10 distinct disorders with high clinical variability, referred to as the…

Caitlin Reid, MS, LGC, explores the BMPR1A gene and its connection to juvenile polyposis syndrome (JPS).

This Gene Scene covers pathogenic variants in KCNH2, known to cause KCNH2-related long QT syndrome and KCNH2-related short QT syndrome