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Progressive familial intrahepatic cholestasis type 2

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Name:
Progressive familial intrahepatic cholestasis type 2
Description:
Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome.
ORPHAcode:
79304
Synonyms:
BSEP deficiency
PFIC2
XREF(s):
Orphanet
ICD-10
OMIM
MeSH
Analyte(s):
ABCB11
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Cholestasis (40 genes) - UCL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCB11 100.00 1 Part of Gastro-pneumo panel
    ABCB4 100.00 1 Part of Gastro-pneumo panel
    AKR1D1 100.00 1 Part of Gastro-pneumo panel
    AMACR 100.00 1 Part of Gastro-pneumo panel
    ATP8B1 100.00 1 Part of Gastro-pneumo panel
    BAAT 100.00 1 Part of Gastro-pneumo panel
    BCS1L 100.00 1 Part of Gastro-pneumo panel
    CC2D2A 100.00 1 Part of Gastro-pneumo panel
    CLDN1 100.00 1 Part of Gastro-pneumo panel
    CYP27A1 100.00 1 Part of Gastro-pneumo panel
    CYP7B1 100.00 1 Part of Gastro-pneumo panel
    DCDC2 100.00 1 Part of Gastro-pneumo panel
    DGUOK 100.00 1 Part of Gastro-pneumo panel
    HNF1B 100.00 1 Part of Gastro-pneumo panel
    HSD3B7 100.00 1 Part of Gastro-pneumo panel
    INVS 100.00 1 Part of Gastro-pneumo panel
    JAG1 100.00 1 Part of Gastro-pneumo panel
    MKS1 100.00 1 Part of Gastro-pneumo panel
    MPV17 100.00 1 Part of Gastro-pneumo panel
    NOTCH2 100.00 1 Part of Gastro-pneumo panel
    NPC1 100.00 1 Part of Gastro-pneumo panel
    NPC2 100.00 1 Part of Gastro-pneumo panel
    NPHP1 100.00 1 Part of Gastro-pneumo panel
    NPHP3 100.00 1 Part of Gastro-pneumo panel
    NPHP4 100.00 1 Part of Gastro-pneumo panel
    NR1H4 100.00 1 Part of Gastro-pneumo panel
    PKHD1 100.00 1 Part of Gastro-pneumo panel
    PNPLA3 0.00 1 Part of Gastro-pneumo panel / only rs738409 and rs2294918
    POLG 100.00 1 Part of Gastro-pneumo panel
    SLC25A13 100.00 1 Part of Gastro-pneumo panel
    SMPD1 100.00 1 Part of Gastro-pneumo panel
    TALDO1 100.00 1 Part of Gastro-pneumo panel
    TJP2 100.00 1 Part of Gastro-pneumo panel
    TM6SF2 0.00 1 Part of Gastro-pneumo panel / only rs58542926
    TMC4 0.00 1 Part of Gastro-pneumo panel / only rs641738
    TMEM216 100.00 1 Part of Gastro-pneumo panel
    TRMU 100.00 1 Part of Gastro-pneumo panel
    UGT1A1 100.00 1 Part of Gastro-pneumo panel
    VIPAS39 100.00 1 Part of Gastro-pneumo panel
    VPS33B 100.00 1 Part of Gastro-pneumo panel