1. Diseases
  2. Fragile X syndrome

Fragile X syndrome

Disease Export to PDF
Name:
Fragile X syndrome
Description:
A rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features including a high forehead, prominent and large ears, hyperextensible finger joints, flat feet with pronation and, in adolescent and adult males, macroorchidism.
ORPHAcode:
908
Synonyms:
FRAXA syndrome
FXS
FraX syndrome
Martin-Bell syndrome
XREF(s):
Orphanet
ICD-10
MeSH
OMIM
OMIM
MedDRA
Analyte(s):
FMR1
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Autism (57 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ADARB2 100.00 1 NM_018702.4
    ADNP 100.00 1 NM_001282531.3
    ANK2 100.00 1 NM_001148.6
    ANKRD11 100.00 1 NM_013275.6
    ARID1B 98.00 1 NM_001374828.1
    BCKDK 100.00 1 NM_005881.4
    CACNA1C 100.00 1 NM_000719.7
    CHD3 100.00 1 NM_001005273.3
    CHD7 100.00 1 NM_017780.4
    CHD8 100.00 1 NM_001170629.2
    CHRNA7 0.00 1 NM_000746.6 / Exons 1-4 (5-10 not covered) / % unknown
    CNTNAP2 100.00 1 NM_014141.6
    CNTNAP4 100.00 1 NM_033401.5
    DHCR7 100.00 1 NM_001360.3
    DYRK1A 100.00 1 NM_001347721.2
    FMR1 100.00 1 NM_002024.6
    FOXP1 100.00 1 NM_032682.6
    FOXP2 100.00 1 NM_014491.4
    GRIN2A 100.00 1 NM_001134407.3
    GRIN2B 100.00 1 XM_011520629.2
    HDAC4 100.00 1 NM_006037.3
    KATNAL2 100.00 1 NM_031303.3
    KCNB1 100.00 1 NM_004975.4
    MECP2 100.00 1 NM_001110792.2 and NM_004992.3
    MEF2C 100.00 1 NM_002397.5
    MTOR 100.00 1 NM_004958.4
    NIPBL 100.00 1 NM_133433.4
    NLGN1 100.00 1 NM_014932.5
    NLGN3 100.00 1 NM_181303.2
    NLGN4X 100.00 1 NM_181332.3
    NLGN4Y 100.00 1 NM_014893.4
    NRXN1 100.00 1 NM_001330078.2
    NRXN2 100.00 1 NM_015080.4
    NRXN3 100.00 1 NM_001330195.2
    POGZ 100.00 1 NM_015100.4
    PPP2R5D 100.00 1 NM_006245.4
    PTCHD1 100.00 1 NM_173495.3
    PTEN 100.00 1 NM_000314.8
    RAI1 100.00 1 NM_030665.4
    RIMS1 100.00 1 NM_014989.5
    SCN1A 100.00 1 NM_001165963.3
    SCN2A 100.00 1 NM_001040142.2
    SCN8A 100.00 1 NM_001330260.2
    SHANK1 100.00 1 NM_016148.5
    SHANK2 100.00 1 NM_133266.5
    SHANK3 100.00 1 NM_001372044.1
    SMC1A 100.00 1 NM_006306.4
    SMC3 100.00 1 NM_005445.4
    SYNGAP1 100.00 1 NM_006772.3
    TBL1XR1 100.00 1 NM_024665.7
    TBR1 100.00 1 NM_006593.4
    TCF20 100.00 1 NM_005650.3
    TMLHE 100.00 1 NM_018196.4
    TSC1 100.00 1 NM_000368.5
    TSC2 100.00 1 NM_000548.5
    UBE3A 100.00 1 NM_130839.5
    VPS13B 100.00 1 NM_017890.4
  • Epilepsy, seizures (196 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AARS1 100.00 1 NM_001605.3
    ACTB 100.00 1 NM_001101.5
    ADSL 100.00 1 NM_000026.4
    AKT3 100.00 1 NM_005465.7
    ALDH7A1 100.00 1 NM_001182.5
    ALG13 98.77 1 NM_001099922.3
    ANKRD11 99.99 1 NM_013275.6
    ARHGEF9 100.00 1 NM_001353921.2
    ARID1B 98.38 1 NM_001374828.1
    ARX 96.96 1 NM_139058.3
    ASXL3 100.00 1 NM_030632.3
    ATN1 100.00 1 NM_001940.4
    ATP1A2 100.00 1 NM_000702.4
    ATP1A3 100.00 1 NM_152296.5
    ATP7A 100.00 1 NM_000052.7
    ATRX 100.00 1 NM_000489.5
    ATXN2 100.00 1 NM_001372574.1
    BRAT1 100.00 1 NM_152743.4
    BTD 100.00 1 NM_001370658.1
    CACNA1A 100.00 1 NM_023035.3
    CACNA1D 100.00 1 NM_001128840.3
    CACNA1E 100.00 1 NM_001205293.3
    CACNA2D2 100.00 1 NM_001174051.3
    CAD 100.00 1 NM_004341.5
    CAMK2A 100.00 1 NM_015981.4
    CAMK2B 100.00 1 NM_001220.5
    CASK 100.00 1 NM_003688.3
    CDKL5 100.00 1 NM_001323289.2
    CERT1 100.00 1 NM_001130105.1
    CHD2 100.00 1 NM_001271.4
    CHRNA2 100.00 1 NM_000742.4
    CHRNA4 100.00 1 NM_000744.6
    CHRNB2 100.00 1 NM_000748.3
    CLN3 100.00 1 NM_001042432.2
    CLN5 100.00 1 NM_006493.4
    CLN6 100.00 1 NM_017882.3
    CLTC 100.00 1 NM_004859.4
    CNTNAP2 100.00 1 NM_014141.6
    COL4A1 100.00 1 NM_001845.6
    CSNK2B 100.00 1 NM_001320.7
    CSTB 100.00 1 NM_000100.4
    CTSA 100.00 1 NM_000308.4
    CTSD 100.00 1 NM_001909.5
    CTSF 100.00 1 NM_003793.4
    CUL4B 100.00 1 NM_001079872.2
    CYFIP2 100.00 1 NM_001037333.3
    DCX 100.00 1 NM_001195553.2
    DDC 100.00 1 NM_001082971.2
    DDX3X 100.00 1 NM_001356.4
    DEAF1 100.00 1 NM_021008.4
    DEPDC5 100.00 1 NM_001242896.3
    DHDDS 100.00 1 NM_205861.3
    DNAJC5 100.00 1 NM_025219.3
    DNM1 100.00 1 NM_004408.4
    DOCK7 100.00 1 NM_001367561.1
    DYNC1H1 100.00 1 NM_001376.5
    DYRK1A 100.00 1 NM_001347721.2
    EEF1A2 100.00 1 NM_001958.5
    EHMT1 100.00 1 NM_024757.5
    EPM2A 100.00 1 NM_005670.4
    FGF12 100.00 1 NM_021032.4
    FLNA 100.00 1 NM_001110556.2
    FMR1 100.00 1 NM_002024.6
    FOLR1 100.00 1 NM_016729.3
    FOXG1 99.86 1 NM_005249.5
    FOXP1 100.00 1 NM_032682.6
    GABBR2 100.00 1 NM_005458.8
    GABRA1 100.00 1 NM_001127644.2
    GABRA2 100.00 1 NM_001330690.1
    GABRA3 100.00 1 NM_000808.4
    GABRA5 100.00 1 NM_000810.4
    GABRB1 100.00 1 NM_000812.4
    GABRB2 100.00 1 NM_001371727.1
    GABRB3 100.00 1 NM_000814.6
    GABRD 100.00 1 NM_000815.5
    GABRG2 92.05 1 NM_198903.2
    GAD1 100.00 1 NM_000817.3
    GAD2 100.00 1 NM_001134366.2
    GAMT 100.00 1 NM_000156.6
    GATM 100.00 1 NM_001482.3
    GBA1 98.97 1 NM_000157.4
    GLDC 100.00 1 NM_000170.3
    GLI3 100.00 1 NM_000168.6
    GNAO1 100.00 1 NM_020988.3
    GNB1 100.00 1 NM_002074.5
    GOSR2 100.00 1 NM_004287.5
    GPAA1 100.00 1 NM_003801.4
    GRIA3 100.00 1 NM_007325.5
    GRIN1 100.00 1 NM_007327.4
    GRIN2A 100.00 1 NM_001134407.3
    GRIN2B 100.00 1 XM_011520629.2
    GRIN2D 100.00 1 NM_000836.2
    H3-3A 100.00 1 NM_002107.7
    H3-3B 100.00 1 NM_005324.5
    HECW2 100.00 1 NM_001348768.2
    HIVEP2 100.00 1 NM_006734.4
    HLCS 100.00 1 NM_000411.8
    HNRNPU 100.00 1 NM_031844.3
    HUWE1 100.00 1 NM_031407.7
    IQSEC2 99.37 1 NM_001111125.3
    JMJD1C 100.00 1 NM_032776.3
    KANSL1 100.00 1 NM_001193466.2
    KCNA1 100.00 1 NM_000217.3
    KCNA2 100.00 1 NM_004974.4
    KCNB1 100.00 1 NM_004975.4
    KCNC1 100.00 1 NM_001112741.2
    KCNH1 100.00 1 NM_172362.3
    KCNJ10 100.00 1 NM_002241.5
    KCNK4 100.00 1 NM_033310.3
    KCNQ2 100.00 1 NM_172107.4
    KCNQ3 100.00 1 NM_004519.4
    KCNT1 100.00 1 NM_020822.3
    KCNT2 100.00 1 NM_198503.5
    KCTD7 100.00 1 NM_153033.4
    KDM5C 100.00 1 NM_004187.5
    KDM6A 100.00 1 NM_001291415.2
    KIF1A 100.00 1 NM_001244008.1
    KMT2D 100.00 1 NM_003482.3
    KMT2E 100.00 1 NM_182931.3
    KPTN 100.00 1 NM_007059.4
    LGI1 100.00 1 NM_005097.4
    LRP1 100.00 1 NM_002332.3
    MAGI2 100.00 1 NM_012301.4
    MBD5 100.00 1 NM_018328.4
    MECP2 100.00 1 NM_001110792.2+NM_004992.3
    MED12 100.00 1 NM_005120.3
    MED13L 100.00 1 NM_015335.4
    MEF2C 100.00 1 NM_002397.5
    MFSD8 100.00 1 NM_001371596.2
    MICAL1 100.00 1 NM_022765.4
    MID1 100.00 1 NM_000381.4
    MOCS1 100.00 1 NM_001358530.2
    MTHFR 100.00 1 NM_005957.5
    MTOR 100.00 1 NM_004958.4
    NEDD4L 100.00 1 NM_001144967.3
    NEU1 100.00 1 NM_000434.4
    NEXMIF 100.00 1 NM_001008537.3
    NF1 100.00 1 NM_001042492.3
    NFIA 99.78 1 NM_001134673.4
    NHLRC1 100.00 1 NM_198586.3
    NLGN3 100.00 1 NM_181303.2
    NPRL2 100.00 1 NM_006545.5
    NPRL3 100.00 1 NM_001077350.3
    NRXN1 100.00 1 NM_001330078.2
    NTRK2 100.00 1 XM_017014751.2
    NUS1 100.00 1 NM_138459.5
    OPHN1 100.00 1 NM_002547.3
    PACS1 100.00 1 NM_018026.4
    PACS2 100.00 1 NM_001100913.3
    PAFAH1B1 100.00 1 NM_000430.4
    PANK2 100.00 1 NM_153638.3
    PCDH19 100.00 1 NM_001184880.2
    PHGDH 100.00 1 NM_006623.4
    PIGA 100.00 1 NM_002641.3
    PIGO 100.00 1 NM_032634.4
    PIGQ 100.00 1 NM_004204.5
    PIGS 100.00 1 NM_033198.4
    PIGT 100.00 1 NM_015937.6
    PIGU 100.00 1 NM_080476.4
    PIGV 100.00 1 NM_017837.4
    PIK3CA 100.00 1 NM_006218.4
    PIK3R2 100.00 1 NM_005027.4
    PLCB1 100.00 1 NM_015192.4
    PLPBP 100.00 1 NM_007198.4
    PLXNA1 100.00 1 NM_032242.3
    PNKP 100.00 1 NM_007254.4
    PNPO 100.00 1 NM_018129.4
    POLG 100.00 1 NM_001126131.2
    PPP2R1A 100.00 1 NM_014225.6
    PPP2R5D 100.00 1 NM_006245.4
    PPT1 100.00 1 NM_000310.4
    PRICKLE1 100.00 1 NM_153026.3
    PRIMA1 100.00 1 NM_178013.4
    PRRT2 100.00 1 NM_145239.3
    PSAT1 100.00 1 NM_058179.4
    PTEN 100.00 1 NM_000314.8
    PURA 100.00 1 NM_005859.5
    QARS1 100.00 1 NM_005051.3
    RELN 100.00 1 NM_005045.4
    RLIM 100.00 1 NM_016120.4
    SCAF4 100.00 1 NM_020706.2
    SCARB2 100.00 1 NM_005506.4
    SCN1A 100.00 1 NM_001165963.3
    SCN1B 100.00 1 NM_001037.5+NM_199037.5
    SCN2A 100.00 1 NM_001040142.2
    SCN3A 100.00 1 NM_006922.4
    SCN8A 100.00 1 NM_001330260.2
    SCN9A 100.00 1 NM_001365536.1
    SERPINI1 100.00 1 NM_001122752.1
    SETBP1 99.99 1 NM_015559.3
    SETD5 100.00 1 NM_001080517.3
    SLC12A5 100.00 1 NM_020708.5
    SLC19A3 100.00 1 NM_025243.4
    SLC1A2 100.00 1 NM_004171.4
    SLC25A22 100.00 1 NM_001191061.2
    SLC2A1 100.00 1 NM_006516.3
    SLC35A2 100.00 1 NM_005660.3
    SLC6A1 100.00 1 NM_003042.4
    SLC6A11 100.00 1 NM_014229.3
    SLC6A8 100.00 1 NM_005629.4
    SLC9A6 100.00 1 NM_001042537.1
    SMARCA2 100.00 1 NM_003070.5
    SMC1A 100.00 1 NM_006306.4
    SMS 100.00 1 NM_004595.5
    SNAP25 100.00 1 NM_130811.4
    SPTAN1 100.00 1 NM_001130438.3
    ST3GAL3 100.00 1 NM_006279.5
    STX1B 100.00 1 NM_052874.5
    STXBP1 100.00 1 NM_001032221.6
    SYN1 100.00 1 NM_006950.3
    SYNGAP1 100.00 1 NM_006772.3
    SZT2 100.00 1 NM_001365999.1
    TBC1D24 100.00 1 NM_001199107.2
    TBL1XR1 100.00 1 NM_024665.7
    TCF4 100.00 1 NM_001083962.2
    TNK2 100.00 1 XM_005269270.3
    TPP1 100.00 1 NM_000391.4
    TRPM6 100.00 1 NM_017662.5
    TRRAP 100.00 1 NM_001244580.1
    TSC1 100.00 1 NM_000368.5
    TSC2 100.00 1 NM_000548.5
    TUBA1A 100.00 1 NM_006009.4
    TWNK 100.00 1 NM_021830.5
    UBE3A 100.00 1 NM_130839.5
    UGP2 100.00 1 NM_006759.3
    WASF1 100.00 1 NM_003931.3
    WDR45 100.00 1 NM_001029896.2
    WWOX 100.00 1 NM_016373.4
    ZEB2 100.00 1 NM_014795.4
  • Premature Ovarian Failure/Insufficiency (32 genes) - VUB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AFF2 100.00 0
    AMH 75.52 0
    AMHR2 100.00 0
    BMP15 100.00 0
    DACH2 99.75 0
    DAZL 100.00 0
    DIAPH2 100.00 0
    DMC1 100.00 0
    ESR1 99.95 0
    FIGLA 98.07 0
    FMR1 100.00 0
    FOXL2 85.42 0
    FOXO1 86.72 0
    FOXO3 99.72 0
    FSHR 100.00 0
    GDF9 100.00 0
    GPR3 100.00 0
    HFM1 100.00 0
    INHA 100.00 0
    LHCGR 99.37 0
    MCM8 97.95 0
    MSH5 99.82 -2
    NOBOX 100.00 0
    NR5A1 100.00 0
    PATL2 100.00 0
    PGRMC1 100.00 0
    POF1B 100.00 0
    SOHLH1 100.00 0
    SOHLH2 96.06 0
    STAG3 99.70 0
    TGFBR3 100.00 0
    XPNPEP2 100.00 0
  • essai2
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    FMR1