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פאנלים

Liver disease

GC_18

Last update: 26.01.2026

Inherited liver diseases are a heterogeneous group of disorders affecting hepatic metabolism, bile formation, storage pathways, and structural liver function. Clinical manifestations include cholestasis, hepatitis, cirrhosis, hepatomegaly, metabolic liver disease, and progressive liver failure.

This panel includes genes associated with the major inherited liver disorders, including cholestatic liver disease, Wilson disease, α1-antitrypsin deficiency, hereditary hemochromatosis, glycogen storage disorders, cystic fibrosis-associated liver disease, and metabolic liver disorders. Representative genes include ATP7B, SERPINA1, HFE, ABCB4, ATP8B1, JAG1, CFTR, and UGT1A1.

This panel is recommended for patients with unexplained liver dysfunction, cholestasis, metabolic liver disease, or hereditary liver disorders, particularly when a genetic diagnosis may guide disease-specific management.
ABCB11, ABCB4, ABCC2, ABCD3, ABCG5, ABCG8, ACOX1, ACOX2, ADK, AHI1, AKR1C4, AKR1D1, ALAD, ALAS2, ALDOB, ALG1, ALG8, ALG9, AMACR, ANKS6, AP1S1, ARG1, ARL13B, ARL6, ASS1, ATP6AP1, ATP7B, ATP8B1, B4GALT1, B9D1, B9D2, BAAT, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCS1L, BLVRA, C19ORF70, C5ORF42, CC2D2A, CCDC115, CDAN1, CEP164, CEP290, CEP41, CFTR, CLDN1, CLPX, COG6, COG7, CPOX, CREB3L3, CTNS, CYP27A1, CYP7A1, CYP7B1, DCDC2, DGUOK, DHCR7, DNAJB11, EPCAM, ERCC1, FAH, FARSA, FARSB, FECH, FH, G6PD, GALE, GALK1, GALM, GALT, GANAB, GBA, GBE1, GLI2, GLIS2, GLIS3, GNAS, HADHA, HADHB, HAMP, HFE, HJV, HMBS, HNF1A, HNF1B, HSD17B4, HSD3B7, IARS1, INPP5E, INVS, IQCB1, ITCH, JAG1, KIF12, KIF7, KMT2D, LCT, LIPA, LMF1, LRP5, LSR, MKKS, MKS1, MMACHC, MMP15, MPI, MPV17, MVK, MYO5B, NBAS, NEK8, NEUROG3, NOTCH2, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NR1H4, OFD1, OTC, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHKA2, PHKB, PHKG2, PKD1, PKD1L1, PKD2, PKHD1, POLG, POMC, PPM1F, PPOX, PRKCSH, PSKH1, PTF1A, PYGL, RFX6, RPGRIP1L, RTEL1, SC5D, SCP2, SCYL1, SEC61B, SEC63, SERAC1, SERPINA1, SHPK, SLC10A2, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC26A3, SLC27A5, SLC30A10, SLC51B, SLCO1B1, SLCO1B3, SMPD1, SMS, SPINT2, STN1, STXBP2, TALDO1, TBX19, TCTN1, TCTN2, TCTN3, TERC, TERT, TFAM, TFR2, TJP2, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TRAPPC11, TRIM32, TRMU, TSFM, TTC21B, TTC26, TTC37, TTC8, TWNK, UGT1A1, UNC45A, USP53, UTP4, VIPAS39, VMA21, VPS33B, VPS50, WDR19, WDR35, WDR83OS, YARS1, ZFYVE19, ZNF423

ClinVar P/LP variants (IDs) not covered: CEP290:[3774377] | CFTR:[1705266]; [3385381]; [3572906]; [818230]; [4279028] | GALT:[4541441] | HADHB:[3359235] | OFD1:[375728] | OTC:[4072311] | PEX14:[3663959] | PKD1:[3780893] | SERAC1:[4526663]


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