1. Analytes
  2. LCAT

LCAT

Analyte Export to PDF
Name:
lecithin-cholesterol acyltransferase
Symbol:
LCAT
Version of Orphanet:
2023-06-22 14:14:43
Synonyms:
phosphatidylcholine--sterol O-acyltransferase
XREF(s):
Orphanet
Ensembl
Genatlas
HGNC
OMIM
Reactome
SwissProt
Created:
13 May 2019 - 01:01
Changed:
22 Jun 2023 - 16:14
  • Cataract - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABHD12 99.98 1
    ADAMTSL4 99.66 1
    AGK 99.99 1
    ALDH18A1 99.96 1
    B3GLCT 99.90 1
    BCOR 99.97 1
    BEST1 99.86 1
    BFSP1 100.00 1
    BFSP2 99.09 1
    CHMP4B 99.96 1
    COL11A1 90.72 1
    COL18A1 99.99 1
    COL2A1 99.87 1
    CRYAA 19.49 1
    CRYAB 100.00 1
    CRYBA1 99.99 1
    CRYBA2 100.00 1
    CRYBA4 100.00 1
    CRYBB1 99.46 1
    CRYBB2 99.94 1
    CRYBB3 99.99 1
    CRYGB 99.99 1
    CRYGC 100.00 1
    CRYGD 100.00 1
    CRYGS 100.00 1
    CTDP1 99.97 1
    CYP27A1 100.00 1
    CYP51A1 97.82 1
    DNMBP 99.94 1
    EPG5 99.95 1
    EPHA2 99.99 1
    EYA1 99.81 1
    HYCC1 99.81 1
    FBN1 99.85 1
    FOXE3 99.29 1
    FTL 99.99 1
    FYCO1 100.00 1
    FZD4 100.00 1
    GALK1 100.00 1
    GALT 100.00 1
    GCNT2 100.00 1
    GJA1 100.00 1
    GJA3 100.00 1
    GJA8 99.99 1
    HMX1 100.00 1
    HSF4 99.98 1
    INPP5K 99.94 1
    INTS1 100.00 1
    JAM3 100.00 1
    LCAT 99.97 1
    LEMD2 100.00 1
    LIM2 100.00 1
    LSS 99.98 1
    MAF 99.73 1
    MIPEP 99.98 1
    MIR184 100.00 1
    MYH9 99.95 1
    NDP 99.98 1
    NF2 100.00 1
    NHS 99.96 1
    OCRL 99.89 1
    OPA3 100.00 1
    P3H2 99.93 1
    PANK4 100.00 1
    PAX6 99.95 1
    PITX3 100.00 1
    PXDN 100.00 1
    RRAGA 100.00 1
    SIL1 99.95 1
    SIPA1L3 99.97 1
    SLC16A12 100.00 1
    SLC33A1 99.67 1
    TDRD7 99.87 1
    UNC45B 100.00 1
    VIM 100.00 1
    VSX2 99.99 1
    WFS1 99.99 1
  • Corneal dystrophy - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AGBL1 99.99 1
    CHRDL1 99.94 1
    CHST6 100.00 1
    COL17A1 99.98 1
    COL3A1 99.87 1
    COL5A1 99.99 1
    COL8A2 99.94 1
    CYP4V2 99.98 1
    DCN 99.42 1
    GRHL2 100.00 1
    GSN 99.93 1
    KERA 99.95 1
    KRT12 99.92 1
    KRT3 99.89 1
    LCAT 99.97 1
    LOXHD1 99.99 1
    NLRP1 95.26 1
    NLRP3 100.00 1
    OVOL2 100.00 1
    PAX6 99.95 1
    PIKFYVE 99.81 1
    PITX2 99.98 1
    PRDM5 99.76 1
    SLC4A11 100.00 1
    SOD1 99.97 1
    STS 99.81 1
    TACSTD2 100.00 1
    TCF4 98.56 1
    TGFBI 99.89 1
    UBIAD1 99.98 1
    VSX1 99.93 1
    ZEB1 100.00 1
    ZNF469 100.00 1
  • Nephropathies, hereditary (219 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
    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
    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
    DLEC1 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
    IFT140 95.00 0 NM_014714.4
    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
    PODXL 95.00 0 NM_005397.4
    PRPS1 95.00 0 NM_002764.4
    PTPRO 95.00 0 NM_030667.3
    REN 95.00 0 NM_000537.4
    RET 95.00 0 NM_020975.6
    ROBO2 95.00 0 NM_002942.5
    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
    SLC26A1 95.00 0 NM_213613.4
    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
    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
    TRIM8 95.00 0 NM_030912.3
    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
    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