RERE (arginine-glutamic acid dipeptide repeats) is a nuclear protein that functions as a transcriptional repressor with roles in developmental regulation and cell survival control. The protein localizes to promyelocytic leukemia oncogenic domains (PODs) in the nucleus, where it colocalizes with the proapoptotic protein BAX 1. Overexpression of RERE recruits BAX to the nucleus and PODs, triggering caspase-3 activation and apoptosis 1, indicating RERE's involvement in regulating programmed cell death. Heterozygous pathogenic variants in RERE cause neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH) 2. De novo mutations are the predominant inheritance pattern, though rare inherited variants have been documented 3. RERE variants result in a spectrum of clinical phenotypes including developmental delay, intellectual disability, autism spectrum disorder, vision abnormalities, congenital heart defects, hearing loss, and renal anomalies 32. Genotype-phenotype correlations exist: point mutations affecting the Atrophin-1 domain associate with increased risk of structural eye defects, congenital heart defects, and hearing loss compared to loss-of-function variants 2. RERE is implicated in 1p36 deletion syndrome phenotypes 4 and shows incomplete penetrance in neurodevelopmental disorders 5. Additionally, RERE methylation levels demonstrate causal associations with schizophrenia susceptibility 6.