PTF1A and isolated cerebellar hypoplasia/agenesis: Similarly, whereas coding LOF variants in PTF1A cause both pancreatic and cerebellar agenesis (Sellick et al. 2004), deletions or single-nucleotide variants within a pancreas-specific enhancer located 25 kb downstream of PTF1A cause only isolated pancreatic agenesis, likely because PTF1A expression during cerebellar neurogenesis is maintained (Weedon et al. 2014).