1. Analytes
  2. ABCG8

ABCG8

Analyte Export to PDF
Name:
ATP binding cassette subfamily G member 8
Symbol:
ABCG8
Version of Orphanet:
2022-05-01 04:55:23
Synonyms:
GBD4
gallbladder disease 4
sterolin 2
XREF(s):
Orphanet
Ensembl
Genatlas
HGNC
OMIM
Reactome
SwissProt
Created:
13 May 2019 - 01:01
Changed:
01 May 2022 - 06:55
  • Dyslipidemia ( 13 genes) - ULB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCG5 100.00 1 In case of hypercholesterolemia / NM_022436.2
    ABCG8 100.00 1 In case of hypercholesterolemia / NM_022437.2
    APOB 100.00 1 In case of hypercholesterolemia / NM_000384.2
    APOE 100.00 1 In case of hypercholesterolemia / NM_000041.3
    LDLR 100.00 1 In case of hypercholesterolemia / NM_000527.4
    LDLRAP1 100.00 1 In case of hypercholesterolemia / NM_015627.2
    LIPA 100.00 1 In case of hypercholesterolemia / NM_000235.3
    PCSK9 100.00 1 In case of hypercholesterolemia / NM_174936.3
    LPL 100.00 1 In case of hypertriglyceridemia / NM_000237.2
    APOC2 100.00 1 In case of hypertriglyceridemia / NM_000483.4
    APOA5 100.00 1 In case of hypertriglyceridemia / NM_052968.4
    GPIHBP1 100.00 1 In case of hypertriglyceridemia / NM_178172.5
    LMF1 100.00 1 In case of hypertriglyceridemia / NM_022773.3
  • Familial Hypercholesterolemia panel (8 genes) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    LDLR
    APOB
    APOE
    PCSK9
    LDLRAP1
    LIPA
    ABCG5
    ABCG8
  • Familial Hypercholesterolemia panel (9 genes) - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    LDLR 100.00 1 only for 5'UTR + coding exons + intronic borders +/-14pb
    APOB 99.79 0 only for coding exons and intronic borders +/-14pb Exons 26 and 29 are entirely covered at 30x Exon 1 is not covered
    APOE 100.00 0 only for coding exons and intronic borders +/-14pb
    PCSK9 100.00 0 only for coding exons and intronic borders +/-14pb
    LDLRAP1 98.69 0 only for coding exons and intronic borders +/-14pb exon 1 is not covered
    LIPA 100.00 0 only for coding exons and intronic borders +/-14pb
    ABCG5 100.00 0 only for coding exons and intronic borders +/-14pb
    ABCG8 100.00 0 only for coding exons and intronic borders +/-14pb
    STAP1 100.00 0 only for coding exons and intronic borders +/-14pb
  • Hepatology panel - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCB11 99.86 1
    ABCB4 99.71 1
    ABCC2 99.94 1
    ABCD3 92.70 1
    ABCG5 99.96 1
    ABCG8 99.95 1
    ACADM 96.14 1
    ACADVL 100.00 1
    ACAT1 99.81 1
    ACOX2 99.81 1
    ADK 99.78 1
    AGL 97.67 1
    AGPAT2 100.00 1
    AKR1D1 99.91 1
    ALAD 99.99 1
    ALDOA 100.00 1
    ALDOB 100.00 1
    ALG8 95.49 1
    ALG9 99.73 1
    ALMS1 99.90 1
    AMACR 100.00 1
    ANKS6 100.00 1
    AP1S1 99.49 1
    ARG1 99.95 1
    ASL 99.98 1
    ASS1 77.52 1
    ATP7B 100.00 1
    ATP8B1 99.94 1
    BAAT 99.98 1
    BCS1L 99.99 1
    BSCL2 99.99 1
    BTD 100.00 1
    CAVIN1 100.00 1
    CC2D2A 99.95 1
    CCDC115 99.90 1
    CFTR 99.45 1
    CLDN1 99.99 1
    COG6 99.86 1
    COG7 99.74 1
    CYP21A2 99.91 1
    CPT1A 99.98 1
    CPT2 99.65 1
    CREB3L3 99.98 1
    CYP27A1 100.00 1
    CYP7A1 99.99 1
    CYP7B1 99.82 1
    DCDC2 99.96 1
    DGUOK 99.93 1
    DHCR7 99.97 1
    DKC1 99.59 1
    DLD 99.89 1
    DNAJB11 99.97 1
    EHHADH 99.99 1
    EIF2AK3 97.43 1
    ENO3 100.00 1
    EPHX1 99.97 1
    EPM2A 99.99 1
    ETFA 99.88 1
    ETFB 100.00 1
    FANCA 99.98 1
    FARSA 100.00 1
    FARSB 99.64 1
    FBP1 100.00 1
    FTH1 22.62 1
    G6PC1 99.93 1
    GAA 100.00 1
    GALE 99.90 1
    GALK1 100.00 1
    GALM 100.00 1
    GALT 100.00 1
    GANAB 99.97 1
    GBA 96.92 1
    GBE1 99.73 1
    GFM1 99.95 1
    GNAS 100.00 1
    GUSB 95.07 1
    GYS1 99.98 1
    GYS2 99.86 1
    HADHA 99.98 1
    HAMP 99.99 1
    HFE 100.00 1
    HJV 99.99 1
    HLCS 99.97 1
    HNF1B 100.00 1
    HSD17B4 99.71 1
    HSD3B7 100.00 1
    IARS1 99.89 1
    IFT140 100.00 1
    INVS 99.94 1
    IVD 100.00 1
    JAG1 100.00 1
    KIF12 99.99 1
    KRT18 47.42 1
    KRT8 71.60 1
    LAMP2 98.95 1
    LARS1 99.87 1
    LDHA 99.94 1
    LIPA 99.96 1
    LRP5 99.95 1
    LSR 99.98 1
    MARS1 99.97 1
    MCEE 99.90 1
    MKS1 99.92 1
    MMUT 99.68 1
    MPI 99.95 1
    MPV17 99.98 1
    MVK 99.97 1
    MYO5B 100.00 1
    NBAS 99.86 1
    NEK9 99.99 1
    NEU1 99.98 1
    NGLY1 99.93 1
    NHLRC1 100.00 1
    NOTCH2 99.03 1
    NPC1 99.99 1
    NPC2 100.00 1
    NPHP1 99.05 1
    NPHP3 99.89 1
    NPHP4 99.98 1
    NR1H4 99.49 1
    OXCT1 99.82 1
    PODXL 99.99 1
    PCCA 99.90 1
    PCCB 99.97 1
    PEX1 98.80 1
    PEX10 100.00 1
    PEX11B 99.62 1
    PEX12 100.00 1
    PEX13 99.36 1
    PEX14 100.00 1
    PEX16 99.94 1
    PEX19 99.25 1
    PEX2 100.00 1
    PEX26 100.00 1
    PEX3 99.85 1
    PEX5 99.89 1
    PEX6 99.99 1
    PEX7 99.72 1
    PFKM 99.57 1
    PGAM2 100.00 1
    PGK1 99.93 1
    PGM1 96.77 1
    PHKA1 99.84 1
    PHKA2 99.92 1
    PHKB 99.69 1
    PHKG2 99.86 1
    PKD1 99.98 1
    PKD2 99.91 1
    PKHD1 99.95 1
    PMM2 99.93 1
    PNPLA3 100.00 1
    POLG 100.00 1
    PPM1F 100.00 1
    PRKAG2 99.96 1
    PRKCSH 99.99 1
    PYGL 99.99 1
    PYGM 99.96 1
    RBCK1 100.00 1
    RINT1 99.99 1
    RPGRIP1L 96.35 1
    SBDS 99.93 1
    SCO1 99.98 1
    SEC63 99.84 1
    SERPINA1 100.00 1
    SLC10A1 99.99 1
    SLC10A2 99.99 1
    SLC16A1 99.26 1
    SLC25A13 99.67 1
    SLC25A20 100.00 1
    SLC2A2 99.96 1
    SLC30A10 99.99 1
    SLC51A 100.00 1
    SLCO1B1 98.69 1
    SLCO1B3 99.85 1
    SMPD1 100.00 1
    PMP22 99.99 1
    STN1 99.88 1
    STT3B 99.96 1
    TALDO1 100.00 1
    TANGO2 99.85 1
    TFR2 99.97 1
    TJP2 99.99 1
    TMEM216 99.98 1
    TMEM67 99.69 1
    TRMU 100.00 1
    TTC37 99.82 1
    TWNK 100.00 1
    UGT1A1 99.98 1
    UNC45A 100.00 1
    UROS 100.00 1
    USP53 99.92 1
    UTP4 99.91 1
    VIPAS39 99.87 1
    VPS33B 99.95 1
    VPS50 98.35 1
    WDR83OS 100.00 1
    YARS1 99.29 1
    ZFYVE19 99.99 1
  • Trombosis - Hemostasis (106 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCC4 95.00 0 NM_005845.4/ interpretable range CS1>95%
    ABCG5 95.00 0 NM_022436.2/ interpretable range CS1>95%
    ABCG8 95.00 0 NM_022437.2/ interpretable range CS1>95%
    ACTB 95.00 0 NM_001101.4/ interpretable range CS1>95%
    ACTN1 95.00 0 NM_001130004.1/ interpretable range CS1>95%
    ACVRL1 95.00 0 NM_000020.2/ interpretable range CS1>95%
    ADAMTS13 95.00 0 NM_139025.4/ interpretable range CS1>95%
    ANKRD26 95.00 0 NM_014915.2/ interpretable range CS1>95%
    ANO6 95.00 0 NM_001025356.2/ interpretable range CS1>95%
    AP3B1 95.00 0 NM_003664.4/ interpretable range CS1>95%
    AP3D1 95.00 0 NM_001261826.1/ interpretable range CS1>95%
    ARPC1B 95.00 0 NM_005720.3/ interpretable range CS1>95%
    BLOC1S3 95.00 0 NM_212550.3/ interpretable range CS1>95%
    BLOC1S5 95.00 0 NM_201280.2/ interpretable range CS1>95%
    BLOC1S6 95.00 0 NM_012388.2/ interpretable range CS1>95%
    CDC42 95.00 0 NM_001791.3/ interpretable range CS1>95%
    CHST14 95.00 0 NM_130468.3/ interpretable range CS1>95%
    COL1A1 95.00 0 NM_000088.3/ interpretable range CS1>95%
    COL3A1 95.00 0 NM_000090.3/ interpretable range CS1>95%
    COL4A1 95.00 0 NM_001845.5/ interpretable range CS1>95%
    COL4A2 95.00 0 NM_001846.3/ interpretable range CS1>95%
    COL5A1 95.00 0 NM_000093.4/ interpretable range CS1>95%
    COL5A2 95.00 0 NM_000393.3/ interpretable range CS1>95%
    CYCS 95.00 0 NM_018947.5/ interpretable range CS1>95%
    DIAPH1 95.00 0 NM_005219.4/ interpretable range CS1>95%
    DTNBP1 95.00 0 NM_032122.4/ interpretable range CS1>95%
    ENG 95.00 0 NM_000118.3/ interpretable range CS1>95%
    ETV6 95.00 0 NM_001987.4/ interpretable range CS1>95%
    F10 95.00 0 NM_000504.3/ interpretable range CS1>95%
    F11 95.00 0 NM_000128.3/ interpretable range CS1>95%
    F12 95.00 0 NM_000505.3/ interpretable range CS1>95%
    F13A1 95.00 0 NM_000129.3/ interpretable range CS1>95%
    F13B 95.00 0 NM_001994.2/ interpretable range CS1>95%
    F2 95.00 0 NM_000506.3/ interpretable range CS1>95%
    F5 95.00 0 NM_000130.4/ interpretable range CS1>95%
    F7 95.00 0 NM_000131.4/ interpretable range CS1>95%
    F8 95.00 0 NM_000132.3/ interpretable range CS1>95%
    F9 95.00 0 NM_000133.3/ interpretable range CS1>95%
    FERMT3 95.00 0 NM_031471.5/ interpretable range CS1>95%
    FGA 95.00 0 NM_021871.2/ interpretable range CS1>95%
    FGB 95.00 0 NM_005141.4/ interpretable range CS1>95%
    FGG 95.00 0 NM_000509.4/ interpretable range CS1>95%
    FLII 95.00 0 NM_002017.4/ interpretable range CS1>95%
    FLNA 95.00 0 NM_001456.3/ interpretable range CS1>95%
    FYB1 95.00 0 NM_001465.5/ interpretable range CS1>95%
    GATA1 95.00 0 NM_002049.3/ interpretable range CS1>95%
    GDF2 95.00 0 NM_016204.3/ interpretable range CS1>95%
    GFI1B 95.00 0 NM_004188.5/ interpretable range CS1>95%
    GGCX 95.00 0 NM_000821.5/ interpretable range CS1>95%
    GNE 95.00 0 NM_001128227.2/ interpretable range CS1>95%
    GP1BA 95.00 0 NM_000173.6/ interpretable range CS1>95%
    GP1BB 95.00 0 NM_000407.4/ interpretable range CS1>95%
    GP6 95.00 0 NM_001083899.2/ interpretable range CS1>95%
    GP9 95.00 0 NM_000174.4/ interpretable range CS1>95%
    HOXA11 95.00 0 NM_005523.5/ interpretable range CS1>95%
    HPS1 95.00 0 NM_000195.3/ interpretable range CS1>95%
    HPS3 95.00 0 NM_032383.3/ interpretable range CS1>95%
    HPS4 95.00 0 NM_022081.5/ interpretable range CS1>95%
    HPS5 95.00 0 NM_181507.1/ interpretable range CS1>95%
    HPS6 95.00 0 NM_024747.5/ interpretable range CS1>95%
    HRG 95.00 0 NM_000412.3/ interpretable range CS1>95%
    IKZF5 95.00 0 NM_001271840.1/ interpretable range CS1>95%
    ITGA2B 95.00 0 NM_000419.3/ interpretable range CS1>95%
    ITGB3 95.00 0 NM_000212.2/ interpretable range CS1>95%
    KDSR 95.00 0 NM_002035.2/ interpretable range CS1>95%
    KNG1 95.00 0 NM_001102416.2/ interpretable range CS1>95%
    LMAN1 95.00 0 NM_005570.3/ interpretable range CS1>95%
    LYST 95.00 0 NM_000081.3/ interpretable range CS1>95%
    MCFD2 95.00 0 NM_139279.5/ interpretable range CS1>95%
    MECOM 95.00 0 NM_001105078.3/ interpretable range CS1>95%
    MPIG6B 95.00 0 NM_025260.3/ interpretable range CS1>95%
    MPL 95.00 0 NM_005373.2/ interpretable range CS1>95%
    MYH9 95.00 0 NM_002473.5/ interpretable range CS1>95%
    NBEA 95.00 0 NM_015678.4/ interpretable range CS1>95%
    NBEAL2 95.00 0 NM_015175.2/ interpretable range CS1>95%
    P2RY12 95.00 0 NM_022788.4/ interpretable range CS1>95%
    PIGA 95.00 0 NM_002641.3/ interpretable range CS1>95%
    PLA2G4A 95.00 0 NM_024420.2/ interpretable range CS1>95%
    PLAU 95.00 0 NM_002658.3/ interpretable range CS1>95%
    PLG 95.00 0 NM_000301.3/ interpretable range CS1>95%
    PROC 95.00 0 NM_000312.3/ interpretable range CS1>95%
    PROS1 95.00 0 NM_000313.3/ interpretable range CS1>95%
    PTGS1 95.00 0 NM_000962.3/ interpretable range CS1>95%
    RASGRP2 95.00 0 NM_153819.1/ interpretable range CS1>95%
    RBM8A 95.00 0 NM_005105.4/ interpretable range CS1>95%
    RUNX1 95.00 0 NM_001754.4/ interpretable range CS1>95%
    SERPINC1 95.00 0 NM_000488.3/ interpretable range CS1>95%
    SERPIND1 95.00 0 NM_000185.3/ interpretable range CS1>95%
    SERPINE1 95.00 0 NM_000602.4/ interpretable range CS1>95%
    SERPINF2 95.00 0 NM_000934.3/ interpretable range CS1>95%
    SLFN14 95.00 0 NM_001129820.1/ interpretable range CS1>95%
    SMAD4 95.00 0 NM_005359.5/ interpretable range CS1>95%
    SRC 95.00 0 NM_005417.4/ interpretable range CS1>95%
    STIM1 95.00 0 NM_003156.3/ interpretable range CS1>95%
    STXBP2 95.00 0 NM_006949.3/ interpretable range CS1>95%
    TBXA2R 95.00 0 NM_001060.5/ interpretable range CS1>95%
    TBXAS1 95.00 0 NM_001061.4/ interpretable range CS1>95%
    THBD 95.00 0 NM_000361.2/ interpretable range CS1>95%
    THPO 95.00 0 NM_000460.3/ interpretable range CS1>95%
    TPM4 95.00 0 NM_001145160.1/ interpretable range CS1>95%
    TUBB1 95.00 0 NM_030773.3/ interpretable range CS1>95%
    VIPAS39 95.00 0 NM_022067.3/ interpretable range CS1>95%
    VKORC1 95.00 0 NM_024006.4/ interpretable range CS1>95%
    VPS33B 95.00 0 NM_018668.4/ interpretable range CS1>95%
    VWF 95.00 0 NM_000552.3/ interpretable range CS1>95%
    WAS 95.00 0 NM_000377.2/ interpretable range CS1>95%