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Renal coloboma syndrome

Disease Export to PDF
Name:
Renal coloboma syndrome
Description:
A genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.
ORPHAcode:
1475
Synonyms:
Coloboma of optic nerve with renal disease
Papillo-renal syndrome
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
PAX2
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Cakut (congenital anomalies of the kidney and urinary tract-1) (69 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACE 100.00 1 NM_000789.4
    ACTG2 100.00 1 NM_001615.4
    AGT 100.00 1 NM_001384479.1
    AGTR1 100.00 1 NM_000685.5
    ANOS1 100.00 1 NM_000216.4
    BMP4 100.00 1 NM_001202.6
    BMP7 100.00 1 NM_001719.3
    CDC5L 100.00 1 NM_001253.4
    CHD1L 100.00 1 NM_004284.6
    CHD7 100.00 1 NM_017780.4
    DSTYK 100.00 1 NM_015375.3
    EYA1 100.00 1 NM_000503.6
    FGF20 100.00 1 NM_019851.3
    FRAS1 100.00 1 NM_025074.7
    FREM1 100.00 1 NM_001379081.2
    FREM2 100.00 1 NM_207361.6
    GATA3 100.00 1 NM_001002295.2
    GLI3 100.00 1 NM_000168.6
    GREB1L 100.00 1 NM_001142966.3
    GRIP1 100.00 1 NM_001366722.1
    HNF1B 100.00 1 NM_000458.4
    ITGA8 100.00 1 NM_003638.3
    NOTCH2 99.00 1 NM_024408.4
    NPHP3 100.00 1 NM_153240.5
    PAX2 100.00 1 NM_000278.5
    PBX1 100.00 1 NM_002585.4
    REN 100.00 1 NM_000537.4
    RET 100.00 1 NM_020975.6
    ROBO2 100.00 1 NM_001395656.1
    RPGRIP1L 96.00 1 NM_015272.5
    SALL1 100.00 1 NM_002968.3
    SALL4 100.00 1 NM_020436.5
    SIX1 100.00 1 NM_005982.4
    SIX2 100.00 1 NM_016932.5
    SIX5 100.00 1 NM_175875.5
    SOX17 100.00 1 NM_022454.4
    TBX18 100.00 1 NM_001080508.3
    UMOD 100.00 1 NM_003361.4
    UPK3A 100.00 1 NM_006953.4
    WNT4 100.00 1 NM_030761.5
    AGTR2 100.00 1 NM_000686.5
    AGXT 100.00 1 NM_000030.3
    BNC2 100.00 1 NM_017637.6
    CCNQ 100.00 1 NM_152274.5
    CEP55 100.00 1 NM_018131.5
    CHRM3 100.00 1 NM_001375978.1
    CHRNA3 100.00 1 NM_000743.5
    CTU2 100.00 1 NM_001012759.3
    FOXC1 100.00 1 NM_001453.3
    GPC3 100.00 1 NM_004484.4
    HOXA13 100.00 1 NM_000522.5
    HPSE2 100.00 1 NM_021828.5
    JAG1 100.00 1 NM_000214.3
    KIF14 100.00 1 NM_014875.3
    LIFR 100.00 1 NM_001127671.2
    LRIG2 100.00 1 NM_014813.3
    LRP4 100.00 1 NM_002334.4
    NADSYN1 100.00 1 NM_018161.5
    ROBO1 100.00 1 NM_002941.4
    SDCCAG8 100.00 1 NM_006642.5
    SLIT2 100.00 1 NM_004787.4
    STRA6 100.00 1 NM_022369.4
    TBC1D1 100.00 1 NM_001396959.1
    TFAP2A 100.00 1 NM_001372066.1
    TMEM260 100.00 1 NM_017799.4
    TRAP1 100.00 1 NM_016292.3
    WFS1 100.00 1 NM_006005.3
    ZIC3 100.00 1 NM_003413.4
    ZMYM2 100.00 1 NM_197968.4
  • Ciliopathy, polycystic kidney and liver diseases, ADTKD, nephronophtisis, Bardet-Biedl syndromes and kidney cancers (146 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ADAMTS9 100.00 1 NM_182920.2
    ALG8 100.00 1 NM_024079.5
    ANKS6 100.00 1 NM_173551.5
    ARL6 100.00 1 NM_001278293.3
    BBIP1 100.00 1 NM_001195305.3
    BBS1 100.00 1 NM_024649.5
    BBS10 100.00 1 NM_024685.4
    BBS12 100.00 1 NM_152618.3
    BBS2 100.00 1 NM_031885.5
    BBS4 100.00 1 NM_033028.5
    BBS5 100.00 1 NM_152384.3
    BBS7 100.00 1 NM_176824.3
    BBS9 100.00 1 NM_198428.3
    CDC73 100.00 1 NM_024529.5
    CEP164 100.00 1 NM_014956.5
    CEP290 100.00 1 NM_025114.4
    CEP83 100.00 1 NM_016122.3
    COL4A1 100.00 1 NM_001845.6
    COL4A3 100.00 1 NM_000091.5
    COL4A4 100.00 1 NM_000092.5
    COL4A5 100.00 1 NM_033380.3
    DCDC2 100.00 1 NM_016356.5
    DNAJB11 100.00 1 NM_016306.6
    DZIP1L 100.00 1 NM_173543.3
    EYA1 100.00 1 NM_000503.6
    FAN1 100.00 1 NM_014967.5
    FH 100.00 1 NM_000143.4
    FLCN 100.00 1 NM_144997.7
    GANAB 100.00 1 NM_198334.3
    GATA3 100.00 1 NM_001002295.2
    GATM 100.00 1 NM_001482.3
    GLIS2 100.00 1 NM_032575.3
    HNF1B 100.00 1 NM_000458.4
    IFT172 100.00 1 NM_015662.3
    IFT27 100.00 1 NM_001177701.3
    INVS 100.00 1 NM_014425.5
    IQCB1 100.00 1 NM_001023570.4
    LRP5 100.00 1 NM_002335.4
    LRP6 100.00 1 NM_002336.3
    LZTFL1 100.00 1 NM_020347.4
    MAPKBP1 100.00 1 NM_014994.3
    MET 100.00 1 NM_000245.4
    MKKS 100.00 1 NM_170784.3
    MKS1 100.00 1 NM_017777.4
    NEK8 100.00 1 NM_178170.3
    NOTCH2 99.00 1 NM_024408.4
    NPHP1 100.00 1 NM_001128178.3
    NPHP3 100.00 1 NM_153240.5
    NPHP4 100.00 1 NM_015102.5
    OFD1 100.00 1 NM_003611.3
    PAX2 100.00 1 NM_000278.5
    PKD1 100.00 1 NM_001009944.3
    PKD2 100.00 1 NM_000297.4
    PKHD1 100.00 1 NM_138694.4
    PMM2 0.00 1 NM_000303.2 une seule position
    PRKCSH 100.00 1 NM_001289104.2
    PTEN 100.00 1 NM_000314.8
    REN 100.00 1 NM_000537.4
    RPGRIP1L 96.00 1 NM_015272.5
    SDCCAG8 100.00 1 NM_006642.5
    SDHB 100.00 1 NM_003000.3
    SDHD 100.00 1 NM_003002.4
    SEC61A1 100.00 1 NM_013336.4
    SEC63 100.00 1 NM_007214.5
    TMEM67 100.00 1 NM_153704.6
    TRIM32 100.00 1 NM_012210.4
    TSC1 100.00 1 NM_000368.5
    TSC2 100.00 1 NM_000548.5
    TTC21B 100.00 1 NM_024753.5
    TTC8 100.00 1 NM_144596.4
    UMOD 100.00 1 NM_003361.4
    VHL 100.00 1 NM_000551.4
    WDPCP 100.00 1 NM_015910.7
    WDR19 100.00 1 NM_025132.4
    XPNPEP3 100.00 1 NM_022098.4
    ZNF423 100.00 1 NM_001379286.1
    AHI1 100.00 1 NM_001134831.2
    ALG5 100.00 1 NM_013338.5
    ALG9 100.00 1 NM_024740.2
    ARL13B 100.00 1 NM_001174150.2
    ARL3 100.00 1 NM_004311.4
    ARMC9 100.00 1 NM_001352754.2
    ATXN10 100.00 1 NM_013236.4
    B9D1 100.00 1 NM_015681.6
    B9D2 100.00 1 NM_030578.4
    BAP1 100.00 1 NM_004656.4
    C2CD3 100.00 1 NM_001286577.2
    CC2D2A 100.00 1 NM_001378615.1
    CCDC28B 100.00 1 NM_024296.5
    CEP104 100.00 1 NM_014704.4
    CEP120 100.00 1 NM_001375405.1
    CEP41 100.00 1 NM_018718.3
    CFAP418 100.00 1 NM_177965.4
    CPLANE1 100.00 1 NM_001384732.1
    CSPP1 100.00 1 NM_001382391.1
    CYP24A1 100.00 1 NM_000782.5
    DLG5 100.00 1 NM_004747.4
    DYNC2H1 100.00 1 NM_001377.3
    DYNC2I1 100.00 1 NM_018051.5
    DYNC2I2 100.00 1 NM_052844.4
    DYNC2LI1 100.00 1 NM_016008.4
    DYNLT2B 100.00 1 NM_152773.5
    EVC 100.00 1 NM_153717.3
    EVC2 100.00 1 NM_147127.5
    FAM149B1 100.00 1 NM_173348.2
    HNF1A 100.00 1 NM_000545.8
    HYLS1 100.00 1 NM_001134793.2
    IFT122 100.00 1 NM_052989.3
    IFT140 100.00 1 NM_014714.4
    IFT43 100.00 1 NM_001102564.3
    IFT52 100.00 1 NM_016004.5
    IFT74 100.00 1 NM_025103.4
    IFT80 100.00 1 NM_020800.3
    IFT81 100.00 1 NM_014055.4
    INPP5E 100.00 1 NM_019892.6
    INTU 100.00 1 NM_015693.4
    JAG1 100.00 1 NM_000214.3
    KATNIP 100.00 1 NM_015202.5
    KIAA0586 100.00 1 NM_001329943.3
    KIAA0753 100.00 1 NM_014804.3
    KIF14 100.00 1 NM_014875.3
    KIF7 100.00 1 NM_198525.3
    NEK1 100.00 1 NM_001199397.3
    PARN 100.00 1 NM_002582.4
    PDE6D 100.00 1 NM_002601.4
    PIBF1 100.00 1 NM_006346.4
    POC1B 100.00 1 NM_172240.3
    RNF139 100.00 1 NM_007218.4
    SDHA 100.00 1 NM_004168.4
    SDHC 100.00 1 NM_003001.5
    SEC61B 100.00 1 NM_006808.3
    SLC41A1 100.00 1 NM_173854.6
    SREBF1 100.00 1 NM_004176.5
    SUFU 100.00 1 NM_016169.4
    TCTN1 100.00 1 NM_001082538.3
    TCTN2 100.00 1 NM_024809.5
    TCTN3 100.00 1 NM_015631.6
    TFAP2A 100.00 1 NM_001372066.1
    TMEM107 100.00 1 NM_183065.4
    TMEM138 100.00 1 NM_016464.5
    TMEM216 100.00 1 NM_001173990.3
    TMEM218 100.00 1 NM_001258244.2
    TMEM231 100.00 1 NM_001077418.3
    TMEM237 100.00 1 NM_001044385.3
    TOGARAM1 100.00 1 NM_001308120.2
    TRAF3IP1 100.00 1 NM_015650.4
    TXNDC15 100.00 1 NM_024715.4
    WDR35 100.00 1 NM_020779.4
  • Nephrotic syndrome, FSGS, Alport syndrome (76 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACTN4 100.00 1 NM_004924.6
    AMN 100.00 1 NM_030943.4
    ANLN 100.00 1 NM_018685.5
    APOA1 100.00 1 NM_000039.3
    APOL1 100.00 1 NM_003661.4
    ARHGAP24 100.00 1 NM_001025616.3
    ARHGDIA 100.00 1 NM_004309.6
    AVIL 100.00 1 NM_006576.4
    B2M 100.00 1 NM_004048.4
    C3 100.00 1 NM_000064.4
    CD151 100.00 1 NM_004357.5
    CD2AP 100.00 1 NM_012120.3
    CLCN5 100.00 1 NM_001127898.4
    COL4A3 100.00 1 NM_000091.5
    COL4A4 100.00 1 NM_000092.5
    COL4A5 100.00 1 NM_033380.3
    COL4A6 100.00 1 NM_033641.4
    COQ2 100.00 1 NM_001358921.2
    COQ6 100.00 1 NM_182476.3
    COQ8A 100.00 1 NM_020247.5
    COQ8B 100.00 1 NM_024876.4
    CRB2 100.00 1 NM_173689.7
    CUBN 100.00 1 NM_001081.4
    DGKE 100.00 1 NM_003647.3
    EMP2 100.00 1 NM_001424.6
    FGA 100.00 1 NM_021871.4
    FN1 100.00 1 NM_212482.4
    G6PC1 100.00 1 NM_000151.4
    GLA 100.00 1 NM_000169.3
    GSN 100.00 1 NM_198252.3
    INF2 100.00 1 NM_022489.4
    KANK2 100.00 1 NM_001136191.3
    LAMB2 100.00 1 NM_002292.4
    LMX1B 100.00 1 NM_001174147.2
    LRP2 100.00 1 NM_004525.3
    LYZ 100.00 1 NM_000239.3
    MAGI2 100.00 1 NM_012301.4
    MYH9 100.00 1 NM_002473.6
    MYO1E 100.00 1 NM_004998.4
    NPHS1 100.00 1 NM_004646.4
    NPHS2 100.00 1 NM_014625.4
    NUP107 100.00 1 NM_020401.4
    NUP133 100.00 1 NM_018230.3
    NUP160 100.00 1 NM_015231.3
    NUP205 100.00 1 NM_015135.3
    NUP85 100.00 1 NM_024844.5
    NUP93 100.00 1 NM_014669.5
    OCRL 100.00 1 NM_000276.4
    PAX2 100.00 1 NM_000278.5
    PDSS2 100.00 1 NM_020381.4
    PLCE1 100.00 1 NM_016341.4
    PMM2 0.00 1 NM_000303.2 / only position Chr16(GRCh38):g.8797616 87976
    PTPRO 100.00 1 NM_030667.3
    SGPL1 100.00 1 NM_003901.4
    SLC35A1 100.00 1 NM_006416.5
    TBC1D8B 100.00 1 NM_017752.3
    TRPC6 100.00 1 NM_004621.6
    TTC21B 100.00 1 NM_024753.5
    TTR 100.00 1 NM_000371.4
    UMOD 100.00 1 NM_003361.4
    WDR73 100.00 1 NM_032856.5
    WT1 100.00 1 NM_024426.6
    GON7 100.00 1 NM_032490.5
    ITGA3 100.00 1 NM_002204.4
    KIRREL1 100.00 1 NM_018240.7
    LAGE3 100.00 1 NM_006014.5
    LAMA5 100.00 1 NM_005560.6
    NOS1AP 100.00 1 NM_014697.3
    OSGEP 100.00 1 NM_017807.4
    PODXL 94.00 1 NM_001018111.3
    SARS2 100.00 1 NM_017827.4
    SMARCAL1 100.00 1 NM_014140.4
    TP53RK 100.00 1 NM_033550.4
    TPRKB 100.00 1 NM_016058.5
    WDR4 100.00 1 NM_018669.6
    XPO5 100.00 1 NM_020750.3
    YRDC 100.00 1 NM_024640.4