Table 4.
Common known phenotypes of the genes included in the panel including characteristics of progressive familial intrahepatic cholestasis[24,25]
| Mutated gene (deficiency) | Disease association (autosomal recessive) | Disease association (autosomal dominant) |
| ATP8B1(FIC1) | PFIC1(2009) BRIC1 | ICP |
| ABCB11(BSEP) | PFIC2(2009) BRIC2 | ICP Drug-induced cholestasis |
| ABCB4 (MDR3) | PFIC3 | ICP LPAC Drug-induced cholestasis |
| TJP2(TJP2) | PFIC4 | ICP |
| ABCC2(MRP2) | Dubin-Johnson | ICP |
| ABCG5(ABCG5) | Sitosterolemia | Cholelithiasis |
| UGT1A1(UGT1A1) | Crigler-Najjar syndrome type 1; Crigler-Najjar syndrome type 2; Gilbert syndrome (promotor regions) | |
| NR1H4(FXR) | Intralobular cholestasis | Posttransplant hepatic steatosis |
| MYO5B(MYO5B) | Microvillus inclusion disease (MVID); Cholestasis without MVID |
ICP: Intrahepatic cholestasis during pregnancy; LPAC: Low phospholipid-associated cholelithiasis; PFIC: Progressive familial intrahepatic cholestasis; BRIC: Benign recurrent intrahepatic cholestasis.