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  2. APOE

APOE

Analyte Export to PDF
Name:
apolipoprotein E
Symbol:
APOE
Version of Orphanet:
2023-06-22 14:14:43
XREF(s):
Orphanet
Ensembl
Genatlas
HGNC
OMIM
Reactome
SwissProt
Created:
Changed:
  • Dementia, young onset (gene panel)
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    APOE 100.00 1
    APP 100.00 1
    CHCHD10 100.00 1
    CHMP2B 100.00 1
    CSF1R 100.00 1
    FUS 100.00 1
    GRN 100.00 1
    HTRA1 95.00 1
    ITM2B 100.00 1
    MAPT 100.00 1
    NOTCH3 98.00 1
    OPTN 100.00 1
    PRNP 100.00 1
    PSEN1 100.00 1
    PSEN2 100.00 1
    TARDBP 100.00 1
    TBK1 100.00 1
    TREM2 100.00 1
    TYROBP 100.00 1
    UBQLN2 100.00 1
    VCP 100.00 1
  • 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 (9 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    APOB 100.00 1 NM_000384.3
    APOE 100.00 1 NM_000041.4
    LDLR 100.00 1 NM_000527.5
    LDLRAP1 100.00 1 NM_015627.3
    PCSK9 100.00 1 NM_174936.4
    ABCG5 100.00 1 NM_022436.3
    ABCG8 100.00 1 NM_022437.3
    LIPA 100.00 1 NM_000235.4
    STAP1 100.00 1 NM_012108.4
  • Familial Hypercholesterolemia panel (5 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    LDLR 100.00 1
    APOB 100.00 1
    APOE 100.00 1
    PCSK9 100.00 1
    LDLRAP1 100.00 0
  • Familial Hypercholesterolemia panel (8 genes) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    LDLR 100.00 1
    APOB 100.00 0
    APOE 100.00 0
    PCSK9 100.00 0
    LDLRAP1 100.00 0
    LIPA 100.00 0
    ABCG5 100.00 0
    ABCG8 100.00 0
  • 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
  • Hypercholesterolemia (4 genes) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    LDLR
    APOB
    APOE
    PCSK9
  • Hypercholesterolemia (9 genes) - UCL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    LDLR 100.00 1
    APOB 100.00 1
    PCSK9 100.00 1
    ABCG5 100.00 1
    ABCG8 100.00 1
    APOE 100.00 1
    LDLRAP1 100.00 1
    LIPA 100.00 1
    STAP1 100.00 1
  • Hypercholesterolemia, Familial (4 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    LDLR
    APOB
    PCSK9
    APOE
  • Nephropathies, hereditary (222 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACE 95.00 0 NM_000789.4
    ACTN4 95.00 0 NM_004924.6
    AGT 95.00 0 NM_001384479.1
    AGTR1 95.00 0 NM_031850.4
    AGXT 95.00 0 NM_000030.3
    ALG5 95.00 0 NM_013338.5
    ALG8 95.00 0 NM_024079.5
    ALG9 95.00 0 NM_024740.2
    AMN 95.00 0 NM_030943.4
    ANKS6 95.00 0 NM_173551.5
    ANLN 95.00 0 NM_018685.5
    ANOS1 95.00 0 NM_000216.4
    AP2S1 95.00 0 NM_004069.6
    APOA1 95.00 0 NM_000039.3
    APOA2 95.00 0 NM_001643.2
    APOC2 95.00 0 NM_000483.5
    APOE 95.00 0 NM_000041.4
    APOL1 95.00 0 NM_003661.4
    APRT 95.00 0 NM_000485.3
    ARHGAP24 95.00 0 NM_001025616.3
    ARHGDIA 95.00 0 NM_001185077.3
    ATP6V0A4 95.00 0 NM_020632.3
    ATP6V1B1 95.00 0 NM_001692.4
    BICC1 95.00 0 NM_001080512.3
    BMP4 95.00 0 NM_001202.6
    BNC2 95.00 0 NM_017637.6
    BSND 95.00 0 NM_057176.3
    C3 95.00 0 NM_000064.4
    CA2 95.00 0 NM_000067.3
    CACNA1D 95.00 0 NM_000720.4
    CACNA1H 95.00 0 NM_021098.3
    CASR 95.00 0 NM_000388.4
    CD151 95.00 0 NM_004357.5
    CD2AP 95.00 0 NM_012120.3
    CD46 95.00 0 NM_002389.4
    CDC73 95.00 0 NM_024529.5
    CDK20 95.00 0 NM_001039803.3
    CEP164 95.00 0 NM_014956.5
    CEP290 95.00 0 NM_025114.4
    CEP83 95.00 0 NM_016122.3
    CFB 95.00 0 NM_001710.6
    CFH 95.00 0 NM_000186.4
    CFHR1 95.00 0 NM_002113.3
    CFHR3 95.00 0 NM_021023.6
    CFHR5 95.00 0 NM_030787.4
    CFI 95.00 0 NM_000204.5
    CLCN2 95.00 0 NM_004366.6
    CLCN5 95.00 0 NM_000084.5
    CLCNKA 95.00 0 NM_004070.4
    CLCNKB 95.00 0 NM_000085.5
    CLDN10 95.00 0 NM_006984.5
    CLDN16 95.00 0 NM_006580.4
    CLDN19 95.00 0 NM_148960.3
    CNNM2 95.00 0 NM_017649.5
    COL4A1 95.00 0 NM_001845.6
    COL4A3 95.00 0 NM_000091.5
    COL4A4 95.00 0 NM_000092.5
    COL4A5 95.00 0 NM_000495.5
    COQ2 95.00 0 NM_015697.9
    COQ6 95.00 0 NM_182476.3
    COQ8B 95.00 0 NM_024876.4
    CRB2 95.00 0 NM_173689.7
    CTNS 95.00 0 NM_004937.3
    CUBN 95.00 0 NM_001081.4
    CUL3 95.00 0 NM_003590.5
    CYP11B1 95.00 0 NM_000497.4
    CYP11B2 95.00 0 NM_000498.3
    CYP17A1 95.00 0 NM_000102.4
    CYP24A1 95.00 0 NM_000782.5
    DAAM2 95.00 0 NM_001201427.2
    DGKE 95.00 0 NM_003647.3
    DLC1 95.00 0 NM_182643.3
    DNAJB11 95.00 0 NM_016306.6
    DSTYK 95.00 0 NM_015375.3
    DZIP1L 95.00 0 NM_173543.3
    EGF 95.00 0 NM_001963.6
    EHHADH 95.00 0 NM_001966.4
    EMP2 95.00 0 NM_001424.6
    EYA1 95.00 0 NM_000503.6
    FAM20A 95.00 0 NM_017565.4
    FAN1 95.00 0 NM_014967.5
    FAT1 95.00 0 NM_005245.4
    FGA 95.00 0 NM_021871.4
    FGF20 95.00 0 NM_019851.3
    FGF23 95.00 0 NM_020638.3
    FN1 95.00 0 NM_212482.4
    FOXC1 95.00 0 NM_001453.3
    FOXC2 95.00 0 NM_005251.3
    FOXI1 95.00 0 NM_012188.5
    FXYD2 95.00 0 NM_001680.5
    GANAB 95.00 0 NM_198335.4
    GATA3 95.00 0 NM_001002295.2
    GATM 95.00 0 NM_001482.3
    GDNF 95.00 0 NM_000514.4
    GLA 95.00 0 NM_000169.3
    GLIS2 95.00 0 NM_032575.3
    GNA11 95.00 0 NM_002067.5
    GREB1L 95.00 0 NM_001142966.3
    GRHPR 95.00 0 NM_012203.2
    GRIP1 95.00 0 NM_021150.4
    GSN 95.00 0 NM_000177.5
    HNF1A 95.00 0 NM_000545.8
    HNF1B 95.00 0 NM_000458.4
    HNF4A 95.00 0 NM_175914.5
    HOGA1 95.00 0 NM_138413.4
    HOXA13 95.00 0 NM_000522.5
    HPRT1 95.00 0 NM_000194.3
    HSD11B2 95.00 0 NM_000196.4
    IFT81 95.00 0 NM_014055.4
    INF2 95.00 0 NM_022489.4
    INVS 95.00 0 NM_014425.5
    ITGA8 95.00 0 NM_003638.3
    ITSN1 95.00 0 NM_003024.3
    ITSN2 95.00 0 NM_147152.3
    JAG1 95.00 0 NM_000214.3
    KANK2 95.00 0 NM_001136191.3
    KCNA1 95.00 0 NM_000217.3
    KCNJ1 95.00 0 NM_000220.6
    KCNJ10 95.00 0 NM_002241.5
    KCNJ5 95.00 0 NM_000890.5
    KIRREL1 95.00 0 NM_018240.7
    KL 95.00 0 NM_004795.4
    KLHL3 95.00 0 NM_017415.3
    LAMB2 95.00 0 NM_002292.4
    LCAT 95.00 0 NM_000229.2
    LDHD 95.00 0 NM_153486.4
    LHX1 95.00 0 NM_005568.5
    LIFR 95.00 0 NM_002310.6
    LMX1B 95.00 0 NM_002316.4
    LYZ 95.00 0 NM_000239.3
    MAGED2 95.00 0 NM_177433.3
    MAGI2 95.00 0 NM_012301.4
    MAPKBP1 95.00 0 NM_001128608.2
    MMACHC 95.00 0 NM_015506.3
    MOCOS 95.00 0 NM_017947.4
    MTX2 95.00 0 NM_006554.5
    MUC1 95.00 0 NM_002456.6
    MYH9 95.00 0 NM_002473.6
    MYO1E 95.00 0 NM_004998.4
    NEK8 95.00 0 NM_178170.3
    NOTCH2 95.00 0 NM_024408.4
    NPHP1 95.00 0 NM_000272.5
    NPHP3 95.00 0 NM_153240.5
    NPHP4 95.00 0 NM_015102.5
    NPHS1 95.00 0 NM_004646.4
    NPHS2 95.00 0 NM_014625.4
    NR3C1 95.00 0 NM_001018077.1
    NR3C2 95.00 0 NM_000901.5
    NUP107 95.00 0 NM_020401.4
    NUP133 95.00 0 NM_018230.3
    NUP160 95.00 0 NM_015231.3
    NUP85 95.00 0 NM_024844.5
    NUP93 95.00 0 NM_014669.5
    OCRL 95.00 0 NM_000276.4
    OFD1 95.00 0 NM_003611.3
    PAX2 95.00 0 NM_003987.5
    PBX1 95.00 0 NM_002585.4
    PCBD1 95.00 0 NM_000281.4
    PDSS2 95.00 0 NM_020381.4
    PHEX 95.00 0 NM_000444.6
    PKD1 95.00 0 NM_001009944.3
    PKD2 95.00 0 NM_000297.4
    PKHD1 95.00 0 NM_138694.4
    PLCE1 95.00 0 NM_016341.4
    PMM2 95.00 0 NM_000303.3
    PODXL 95.00 0 NM_005397.4
    PRPS1 95.00 0 NM_002764.4
    REN 95.00 0 NM_000537.4
    RET 95.00 0 NM_020975.6
    ROBO2 95.00 0 NM_002942.5
    RRAGD 95.00 0 NM_021244.5
    SALL1 95.00 0 NM_002968.3
    SARS2 95.00 0 NM_017827.4
    SCARB2 95.00 0 NM_005506.4
    SCNN1A 95.00 0 NM_001038.6
    SCNN1B 95.00 0 NM_000336.3
    SCNN1G 95.00 0 NM_001039.4
    SDCCAG8 95.00 0 NM_006642.5
    SEC61A1 95.00 0 NM_013336.4
    SGPL1 95.00 0 NM_003901.4
    SIX1 95.00 0 NM_005982.4
    SIX5 95.00 0 NM_175875.5
    SLC12A1 95.00 0 NM_000338.3
    SLC12A3 95.00 0 NM_000339.3
    SLC22A12 95.00 0 NM_144585.4
    SLC2A2 95.00 0 NM_000340.2
    SLC2A9 95.00 0 NM_020041.3
    SLC34A1 95.00 0 NM_003052.5
    SLC34A3 95.00 0 NM_080877.3
    SLC3A1 95.00 0 NM_000341.4
    SLC4A1 95.00 0 NM_000342.4
    SLC4A4 95.00 0 NM_003759.4
    SLC5A2 95.00 0 NM_003041.4
    SLC7A9 95.00 0 NM_014270.5
    SLIT2 95.00 0 NM_004787.4
    SMARCAL1 95.00 0 NM_014140.4
    STRADA 95.00 0 NM_001003787.4
    TBC1D1 95.00 0 NM_015173.4
    TBC1D8B 95.00 0 NM_017752.3
    TBX18 95.00 0 NM_001080508.3
    TNS2 95.00 0 NM_015319.2
    TRAF3IP1 95.00 0 NM_015650.4
    TRAP1 95.00 0 NM_016292.3
    TRPC6 95.00 0 NM_004621.6
    TRPM6 95.00 0 NM_017662.5
    TSC1 95.00 0 NM_000368.5
    TSC2 95.00 0 NM_000548.5
    TTC21B 95.00 0 NM_024753.5
    TTR 95.00 0 NM_000371.4
    UMOD 95.00 0 NM_003361.4
    VHL 95.00 0 NM_000551.4
    VIPAS39 95.00 0 NM_022067.4
    VPS33B 95.00 0 NM_018668.5
    WDR19 95.00 0 NM_025132.4
    WDR72 95.00 0 NM_182758.4
    WFS1 95.00 0 NM_006005.3
    WNK1 95.00 0 NM_018979.4
    WNK4 95.00 0 NM_032387.5
    WNT4 95.00 0 NM_030761.5
    WT1 95.00 0 NM_024426.6
    XDH 95.00 0 NM_000379.4
    XPNPEP3 95.00 0 NM_022098.4
  • Neurodegeneration (99 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ANG 100.00 1 NM_001145.4
    ANXA11 100.00 1 NM_145868.2
    APP 100.00 1 NM_000484.4
    ATP13A2 100.00 1 NM_022089.4
    CHMP2B 100.00 1 NM_014043.4
    DCTN1 100.00 1 NM_004082.4
    ERBB4 100.00 1 NM_005235.3
    FIG4 100.00 1 NM_014845.6
    FUS 100.00 1 NM_004960.4
    GBA1 100.00 1 NM_000157.4
    GRN 100.00 1 NM_002087.3
    KIF5A 100.00 1 NM_004984.4
    LRRK2 100.00 1 NM_198578.4
    MAPT 100.00 1 NM_001123066.3
    MATR3 100.00 1 NM_018834.6
    NEFH 100.00 1 NM_021076.4
    NEK1 100.00 1 NM_001199397.3
    NOTCH3 100.00 1 NM_000435.3
    OPTN 100.00 1 NM_001008212.2
    PARK7 100.00 1 NM_007262.5
    PFN1 100.00 1 NM_005022.4
    PINK1 100.00 1 NM_032409.3
    PRKN 100.00 1 NM_004562.3
    PRNP 100.00 1 NM_000311.5
    PRPH 100.00 1 NM_006262.4
    PSEN1 100.00 1 NM_000021.4
    PSEN2 100.00 1 NM_000447.3
    SETX 100.00 1 NM_015046.7
    SIGMAR1 100.00 1 NM_005866.4
    SNCA 100.00 1 NM_000345.4
    SOD1 100.00 1 NM_000454.5
    SPG11 100.00 1 NM_025137.4
    TARDBP 100.00 1 NM_007375.4
    TUBA4A 100.00 1 NM_006000.3
    UBQLN2 100.00 1 NM_013444.3
    VAPB 100.00 1 NM_004738.5
    VCP 100.00 1 NM_007126.5
    AARS2 100.00 1 NM_020745.4
    ABAT 100.00 1 NM_020686.6
    ABCB7 100.00 1 NM_001271696.3
    ABCD1 100.00 1 NM_000033.4
    ADPRS 100.00 1 NM_017825.3
    AFG3L2 100.00 1 NM_006796.3
    AP5Z1 100.00 1 NM_014855.3
    APOE 100.00 1 NM_000041.4
    ARSA 100.00 1 NM_000487.6
    ATP1A3 100.00 1 NM_152296.5
    ATP6AP2 100.00 1 NM_005765.3
    C19ORF12 100.00 1 NM_031448.6
    C9ORF72 100.00 1 NM_018325.5
    CCNF 100.00 1 NM_001761.3
    CHCHD10 100.00 1 NM_213720.3
    CHCHD2 100.00 1 NM_016139.4
    CLN3 100.00 1 NM_001042432.2
    CLN5 100.00 1 NM_006493.4
    CLN6 100.00 1 NM_017882.3
    CLN8 100.00 1 NM_018941.4
    COA7 100.00 1 NM_023077.3
    COASY 100.00 1 NM_025233.7
    CRAT 100.00 1 NM_000755.5
    CSF1R 100.00 1 NM_005211.3
    CTSD 100.00 1 NM_001909.5
    CTSF 100.00 1 NM_003793.4
    DNAJC13 100.00 1 NM_015268.4
    DNAJC5 100.00 1 NM_025219.3
    DNAJC6 100.00 1 NM_001256864.2
    EIF4G1 100.00 1 NM_198241.3
    FA2H 100.00 1 NM_024306.5
    FBXO7 100.00 1 NM_012179.4
    FTL 100.00 1 NM_000146.4
    FXN 100.00 1 NM_000144.5
    GCH1 100.00 1 NM_000161.3
    GIGYF2 100.00 1 NM_001103146.3
    GLUD2 100.00 1 NM_012084.4
    GRID2 100.00 1 NM_001510.4
    IREB2 100.00 1 NM_004136.4
    ITM2B 100.00 1 NM_021999.5
    KLC4 100.00 1 NM_201521.3
    MFSD8 100.00 1 NM_001371596.2
    NPC1 100.00 1 NM_000271.5
    NPC2 100.00 1 NM_006432.5
    PANK2 100.00 1 NM_153638.3
    PGAP1 100.00 1 NM_024989.4
    PLA2G6 100.00 1 NM_003560.4
    PODXL 94.00 1 NM_001018111.3
    POLG 100.00 1 NM_001126131.2
    PPT1 100.00 1 NM_000310.4
    RAB18 100.00 1 NM_021252.5
    REPS1 100.00 1 NM_001286611.1
    SLC6A3 100.00 1 NM_001044.5
    SPG21 100.00 1 NM_016630.7
    SQSTM1 100.00 1 NM_003900.5
    SYNJ1 100.00 1 NM_003895.3
    TBK1 100.00 1 NM_013254.4
    UBTF 100.00 1 NM_014233.4
    UCHL1 100.00 1 NM_004181.5
    VPS13C 100.00 1 NM_020821.3
    VPS35 100.00 1 NM_018206.6
    WDR45 100.00 1 NM_001029896.2