Previous multi gene panel testing for genes associated with PFIC and congenital defect in bile acid synthesis revealed one heterozygous variant in the ATP8B1 gene, one heterozygous variant in the ABCB4 gene, one homozygous variant in the BSEP gene and a variant in MDR3 gene, which were each assessed as unclear variants (ACMG class 3). The gene discussed is ATP8B1; the disease is progressive familial intrahepatic cholestasis.