HNF1B and Cholestatic liver disease: Interestingly, a similar clinical/histological liver phenotype was observed in 13 children from 9 unrelated consanguineous families with high GGT cholestatic liver disease, all presenting homozygous damaging variants in kinesin family member 12 (KIF12; Table 3) [64,65], a target gene known to be regulated by the HNF1B transcription factor [62].