Potential diagnoses commonly involved <i>ABCC2</i>, <i>ABCB4, ABCB11, CFTR,</i> and <i>PKHD1.</i> Monoallelic variants were frequent in <i>SERPINA1</i>, <i>CFTR</i>, <i>DHCR7</i>, <i>ABCB4</i>, and <i>PKHD1</i>.<h4>Conclusions</h4>These cholestasis gene panel results reinforce their value in diagnosing and identifying complex genetic causes of cholestasis, especially in infants less than 1 year old. The gene discussed is PKHD1; the disease is cholestasis.