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Atrial septal defect, ostium secundum type

Disease Export to PDF
Name:
Atrial septal defect, ostium secundum type
ORPHAcode:
99103
Synonyms:
ASD, ostium secundum type
XREF(s):
Orphanet
OMIM
OMIM
MedDRA
MedDRA
ICD-10
OMIM
Analyte(s):
ACTC1
GATA4
MYH6
NKX2-5
TBX20
TBX20
TLL1
CITED2
GATA6
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Cardiomyopathy, hereditary (208 genes) - VUB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCC9 100.00 0 No comment
    ACAD9 100.00 0 No comment
    ACADVL 98.89 0 No comment
    ACE 97.11 0 No comment
    ACTA1 100.00 0 No comment
    ACTC1 100.00 0 No comment
    ACTN2 100.00 0 No comment
    ADD3 100.00 0 No comment
    ADRB2 100.00 0 No comment
    AGXT 100.00 0 No comment
    AGTR1 100.00 0 No comment
    AKAP9 100.00 0 No comment
    ALPK3 98.02 0 No comment
    ANKRD1 100.00 0 No comment
    APOA1 99.97 0 No comment
    B2M 100.00 0 No comment
    BAG3 100.00 0 No comment
    BRAF 96.97 0 No comment
    CACNA1C 100.00 0 No comment
    CACNB2 100.00 0 No comment
    CALM1 100.00 0 No comment
    CALM2 100.00 0 No comment
    CALM3 99.99 0 No comment
    CALR3 100.00 0 No comment
    CASQ2 100.00 0 No comment
    CASZ1 95.56 0 No comment
    CAV3 100.00 0 No comment
    CAVIN4 100.00 0 No comment
    CBL 100.00 0 No comment
    CDH2 97.48 0 No comment
    CHRM2 100.00 0 No comment
    CMYA5 99.99 0 No comment
    CNBP 100.00 0 No comment
    COA5 100.00 0 No comment
    COA6 100.00 0 No comment
    COX10 100.00 0 No comment
    COX15 100.00 0 No comment
    CRYAB 100.00 0 No comment
    CSRP3 100.00 0 No comment
    CTF1 30.96 0 No comment
    CTNNA3 100.00 0 No comment
    DES 100.00 0 No comment
    DLG1 100.00 0 No comment
    DMD 100.00 0 No comment
    DNAJC19 100.00 0 No comment
    DNM1L 100.00 0 No comment
    DOLK 100.00 0 No comment
    DSC3 98.44 0 No comment
    DSG2 99.61 0 No comment
    DSP 100.00 0 No comment
    DTNA 100.00 0 No comment
    ECRG4 99.32 0 No comment
    ELAC2 99.99 0 No comment
    ELN 100.00 0 No comment
    EMD 99.84 0 No comment
    EYA4 100.00 0 No comment
    FBXO32 100.00 0 No comment
    CFH 100.00 0 No comment
    FHL2 100.00 0 No comment
    FHOD3 100.00 0 No comment
    FKRP 98.68 0 No comment
    FKTN 100.00 0 No comment
    FLNC 100.00 0 No comment
    FLT1 99.53 0 No comment
    FOXD4 100.00 0 No comment
    FXN 89.89 0 No comment
    GAA 100.00 0 No comment
    GATA4 80.69 0 No comment
    GATA5 97.28 0 No comment
    GATA6 81.11 0 No comment
    GATAD1 88.18 0 No comment
    GLA 100.00 0 No comment
    GTPBP3 100.00 0 No comment
    HACD1 95.46 0 No comment
    HADHB 100.00 0 No comment
    HAND1 100.00 0 No comment
    HCN4 92.35 0 No comment
    HIF1A 100.00 0 No comment
    HRAS 100.00 0 No comment
    HSPB6 99.65 0 No comment
    HSPB7 100.00 0 No comment
    ILK 100.00 0 No comment
    INS-IGF2 99.94 0 No comment
    ISL1 100.00 0 No comment
    JPH2 95.10 0 No comment
    JUP 100.00 0 No comment
    KARS1 100.00 0 No comment
    KAT2B 94.80 0 No comment
    KCND2 100.00 0 No comment
    KCNE1 100.00 0 No comment
    KCNH2 94.44 0 No comment
    KCNJ12 100.00 0 No comment
    KCNQ1 91.07 0 No comment
    KIF20A 100.00 0 No comment
    KLF10 100.00 0 No comment
    LAMA2 100.00 0 No comment
    LAMA4 100.00 0 No comment
    LAMP2 100.00 0 No comment
    LDB3 100.00 0 No comment
    LMNA 99.93 0 No comment
    LRRC10 100.00 0 No comment
    MAP2K1 100.00 0 No comment
    MAP2K2 99.98 0 No comment
    MIB1 100.00 0 No comment
    MIB2 99.31 0 No comment
    MRPL3 100.00 0 No comment
    MRPL44 100.00 0 No comment
    MTO1 95.75 0 No comment
    MYBPC3 100.00 0 No comment
    MYH15 100.00 0 No comment
    MYH6 100.00 0 No comment
    MYH7 100.00 0 No comment
    MYH7B 99.96 0 No comment
    MYL2 100.00 0 No comment
    MYL3 100.00 0 No comment
    MYLK2 100.00 0 No comment
    MYO6 100.00 0 No comment
    MYOM1 100.00 0 No comment
    MYOM3 100.00 0 No comment
    MYOZ1 100.00 0 No comment
    MYOZ2 100.00 0 No comment
    MYPN 100.00 0 No comment
    NAA10 96.03 0 No comment
    NCOA6 100.00 0 No comment
    NDUFAF1 100.00 0 No comment
    NDUFV2 100.00 0 No comment
    NEB 99.99 0 No comment
    NEBL 100.00 0 No comment
    NEXN 100.00 0 No comment
    NKX2-5 100.00 0 No comment
    NPPA 100.00 0 No comment
    NRAP 100.00 0 No comment
    OBSCN 99.26 0 No comment
    OBSL1 98.31 0 No comment
    MED12 100.00 0 No comment
    PDLIM3 100.00 0 No comment
    PKP2 99.87 0 No comment
    PLEC 99.82 0 No comment
    PLEKHM2 99.60 0 No comment
    PLN 100.00 0 No comment
    PPCS 100.00 0 No comment
    PRDM16 100.00 0 No comment
    PRKAG2 95.88 0 No comment
    PRNP 100.00 0 No comment
    PSEN1 100.00 0 No comment
    PSEN2 100.00 0 No comment
    PTEN 98.86 0 No comment
    PTPN11 98.80 0 No comment
    RAF1 100.00 0 No comment
    RANGRF 100.00 0 No comment
    RBM20 99.82 0 No comment
    RIT1 100.00 0 No comment
    RPSA 97.87 0 No comment
    RRAGC 99.99 0 No comment
    RTKN2 100.00 0 No comment
    RYR2 100.00 0 No comment
    S100A1 100.00 0 No comment
    SCN4B 100.00 0 No comment
    SCN5A 100.00 0 No comment
    SDHA 98.02 0 No comment
    SGCB 94.58 0 No comment
    SGCD 100.00 0 No comment
    SGCG 100.00 0 No comment
    SGK1 99.99 0 No comment
    SHOC2 100.00 0 No comment
    SLC12A1 100.00 0 No comment
    SLC22A5 100.00 0 No comment
    SLC25A3 100.00 0 No comment
    SLC25A4 99.09 0 No comment
    SMC1A 100.00 0 No comment
    SNTA1 84.25 0 No comment
    SOD2 100.00 0 No comment
    SOS1 100.00 0 No comment
    SYNE1 100.00 0 No comment
    SYNE2 100.00 0 No comment
    SYNM 92.59 0 No comment
    TAF1A 100.00 0 No comment
    TAX1BP3 100.00 0 No comment
    WWTR1 99.81 0 No comment
    TBX20 100.00 0 No comment
    TBX5 100.00 0 No comment
    TCAP 100.00 0 No comment
    TCF21 100.00 0 No comment
    TGFB3 100.00 0 No comment
    TJP1 99.14 0 No comment
    TK2 95.90 0 No comment
    TMED4 100.00 0 No comment
    TMEM43 100.00 0 No comment
    TMEM87B 99.37 0 No comment
    TMPO 99.87 0 No comment
    TNNI3 100.00 0 No comment
    TNNI3K 100.00 0 No comment
    TNNT2 100.00 0 No comment
    TNNT3 100.00 0 No comment
    TPM1 99.98 0 No comment
    TRIM54 99.66 0 No comment
    TRIM55 100.00 0 No comment
    TRIM63 100.00 0 No comment
    TRPM4 100.00 0 No comment
    TSFM 93.22 0 No comment
    TTN 100.00 0 No comment
    TTR 100.00 0 No comment
    TXNRD2 96.90 0 No comment
    VCL 100.00 0 No comment
    VEGFA 98.73 0 No comment
    YWHAE 98.69 0 No comment
    ZBTB17 100.00 0 No comment
  • Cardiopathies, hereditary (102 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCC9 95.00 0 NM_005691.4 / interpretable range CS1>95%
    ACTC1 95.00 0 NM_005159.5 / interpretable range CS1>95%
    ACTN2 95.00 0 NM_001103.4 / nterpretable range CS1>95%
    AKAP9 95.00 0 NM_005751.5 /interpretable range CS1>95%
    ANK2 95.00 0 NM_001148.6 / interpretable range CS1>95%
    ANKRD1 95.00 0 NM_014391.3 / interpretable range CS1>95%
    BAG3 95.00 0 NM_004281.4 / interpretable range CS1>95%
    CACNA1C 95.00 0 NM_000719.7 / interpretable range CS1>95%
    CACNA1D 95.00 0 NM_000720.4 / interpretable range CS1>95%
    CACNA2D1 95.00 0 NM_000722.4 / interpretable range CS1>95%
    CACNB2 95.00 0 NM_201590.3 / interpretable range CS1>95%
    CALM1 95.00 0 NM_006888.6 / interpretable range CS1>95%
    CALM2 95.00 0 NM_001743.6 / interpretable range CS1>95%
    CALM3 95.00 0 NM_005184.4 / interpretable range CS1>95%
    CALR3 95.00 0 NM_145046.5 / interpretable range CS1>95%
    CASQ2 95.00 0 NM_001232.4 / interpretable range CS1>95%
    CAV3 95.00 0 NM_033337.3 / interpretable range CS1>95%
    CDH2 95.00 0 NM_001792.5 / interpretable range CS1>95%
    CRYAB 95.00 0 NM_001885.3 / interpretable range CS1>95%
    CSRP3 95.00 0 NM_003476.5 / interpretable range CS1>95%
    CTNNA3 95.00 0 NM_013266.4 / interpretable range CS1>95%
    DES 95.00 0 NM_001927.4 / interpretable range CS1>95%
    DSC3 95.00 0 NM_024422.6 / interpretable range CS1>95%
    DSG2 95.00 0 NM_001943.5 / interpretable range CS1>95%
    DSP 95.00 0 NM_004415.4 / interpretable range CS1>95%
    DTNA 95.00 0 NM_001390.4 / interpretable range CS1>95%
    CFH 95.00 0 NM_001449.5 / interpretable range CS1>95%
    FHOD3 95.00 0 NM_025135.5 / interpretable range CS1>95%
    FKTN 95.00 0 NM_001079802.2 / interpretable range CS1>95%
    FLNC 95.00 0 NM_001458.5 / interpretable range CS1>95%
    GJA5 95.00 0 NM_005266.7 / interpretable range CS1>95%
    GLA 95.00 0 NM_000169.3 / interpretable range CS1>95%
    GPD1L 95.00 0 NM_015141.4 / interpretable range CS1>95%
    HCN4 95.00 0 NM_005477.3 / interpretable range CS1>95%
    JPH2 95.00 0 NM_020433.5 / interpretable range CS1>95%
    JUP 95.00 0 NM_002230.4 / interpretable range CS1>95%
    KCNA5 95.00 0 NM_002234.4 / interpretable range CS1>95%
    KCND2 95.00 0 NM_012281.3 / interpretable range CS1>95%
    KCND3 95.00 0 NM_004980.5 / interpretable range CS1>95%
    KCNE1 95.00 0 NM_000219.6 / interpretable range CS1>95%
    KCNE2 95.00 0 NM_172201.2 / interpretable range CS1>95%
    KCNE3 95.00 0 NM_005472.5 / interpretable range CS1>95%
    KCNE5 95.00 0 NM_012282.4 / interpretable range CS1>95%
    KCNH2 95.00 0 NM_000238.4 / interpretable range CS1>95%
    KCNJ2 95.00 0 NM_000891.3 / interpretable range CS1>95%
    KCNJ5 95.00 0 NM_000890.5 / interpretable range CS1>95%
    KCNJ8 95.00 0 NM_004982.4 / interpretable range CS1>95%
    KCNQ1 95.00 0 NM_000218.3 / interpretable range CS1>95%
    LAMA4 95.00 0 NM_002290.5 / interpretable range CS1>95%
    LAMP2 95.00 0 NM_002294.3 / interpretable range CS1>95%
    LDB3 95.00 0 NM_001080116.1 / interpretable range CS1>95%
    LMNA 95.00 0 NM_170707.4 / interpretable range CS1>95%
    MIB1 95.00 0 NM_020774.4 / interpretable range CS1>95%
    MYBPC3 95.00 0 NM_000256.3 / interpretable range CS1>95% / MLPA only in de frame of "Familial hypertrophic cardiomyopathy"
    MYH6 95.00 0 NM_002471.4 / interpretable range CS1>95%
    MYH7 95.00 0 NM_000257.4 / interpretable range CS1>95%
    MYL2 95.00 0 NM_000432.4 / interpretable range CS1>95%
    MYL3 95.00 0 NM_000258.3 / interpretable range CS1>95%
    MYLK2 95.00 0 NM_033118.4 / interpretable range CS1>95%
    MYOZ2 95.00 0 NM_016599.5 / interpretable range CS1>95%
    MYPN 95.00 0 NM_032578.4 / interpretable range CS1>95%
    NEXN 95.00 0 NM_144573.4 / interpretable range CS1>95%
    NKX2-5 95.00 0 NM_004387.4 / interpretable range CS1>95%
    NOS1AP 95.00 0 NM_014697.3 / interpretable range CS1>95%
    NPPA 95.00 0 NM_006172.4 / interpretable range CS1>95%
    NUP155 95.00 0 NM_153485.3 / interpretable range CS1>95%
    PITX2 95.00 0 NM_153427.2 / interpretable range CS1>95%
    PKP2 95.00 0 NM_004572.4 / interpretable range CS1>95%
    PLN 95.00 0 NM_002667.5 / interpretable range CS1>95%
    PRKAG2 95.00 0 NM_016203.4 / interpretable range CS1>95%
    RBM20 95.00 0 NM_001134363.3 / interpretable range CS1>95%
    RYR2 95.00 0 NM_001035.3 / interpretable range CS1>95%
    SLC4A3 95.00 0 NM_201574.2 / interpretable range CS1>95%
    SCN10A 95.00 0 NM_006514.4 / interpretable range CS1>95%
    SCN1B 95.00 0 NM_001037.5 / interpretable range CS1>95%
    SCN2B 95.00 0 NM_004588.5 / interpretable range CS1>95%
    SCN3B 95.00 0 NM_018400.4 / interpretable range CS1>95%
    SCN4B 95.00 0 NM_174934.4 / interpretable range CS1>95%
    SCN5A 95.00 0 NM_198056.3 / interpretable range CS1>95%
    SEMA3A 95.00 0 NM_006080.3 / interpretable range CS1>95%
    SGCD 95.00 0 NM_000337.6 / interpretable range CS1>95%
    SNTA1 95.00 0 NM_003098.3 / interpretable range CS1>95%
    WWTR1 95.00 0 NM_000116.5 / interpretable range CS1>95%
    TBX20 95.00 0 NM_001077653.2 / interpretable range CS1>95%
    TCAP 95.00 0 NM_003673.4 / interpretable range CS1>95%
    TECRL 95.00 0 NM_001010874.5 / interpretable range CS1>95%
    TGFB3 95.00 0 NM_003239.5 / interpretable range CS1>95%
    TJP1 95.00 0 NM_003257.5 / interpretable range CS1>95%
    TMEM43 95.00 0 NM_024334.3 / interpretable range CS1>95%
    TMPO 95.00 0 NM_003276.2 / interpretable range CS1>95%
    TNNI3 95.00 0 NM_000363.5 / interpretable range CS1>95%
    TNNI3K 95.00 0 NM_015978.3 / interpretable range CS1>95%
    TNNT2 95.00 0 NM_001001430.3 / interpretable range CS1>95%
    TPM1 95.00 0 NM_001018005.2 / interpretable range CS1>95%
    TRDN 95.00 0 NM_006073.4 / interpretable range CS1>95%
    TRIM63 95.00 0 NM_032588.4 / interpretable range CS1>95%
    TRPM4 95.00 0 NM_017636.4 / interpretable range CS1>95%
    TTN 95.00 0 NM_001267550.1 / interpretable range CS1>95%
    TTR 95.00 0 NM_000371.4 / interpretable range CS1>95%
    TXNRD2 95.00 0 NM_006440.5 / interpretable range CS1>95%
    VCL 95.00 0 NM_014000.3 / interpretable range CS1>95%
  • Congenital heart disease (29 genes) - VUB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ANK3 0.00 0 No value for column 2
    BMPR2 0.00 0 No value for column 2
    BRAF 0.00 0 No value for column 2
    CFC1 0.00 0 No value for column 2
    CITED2 0.00 0 No value for column 2
    CRELD1 0.00 0 No value for column 2
    GATA4 0.00 0 No value for column 2
    GATA5 0.00 0 No value for column 2
    GATA6 0.00 0 No value for column 2
    GDF1 0.00 0 No value for column 2
    GJA1 0.00 0 No value for column 2
    HAND1 0.00 0 No value for column 2
    HAND2 0.00 0 No value for column 2
    JAG1 0.00 0 No value for column 2
    KRAS 0.00 0 No value for column 2
    MAP2K1 0.00 0 No value for column 2
    MAP2K2 0.00 0 No value for column 2
    MED13L 0.00 0 No value for column 2
    NKX2-5 0.00 0 No value for column 2
    NKX2-6 0.00 0 No value for column 2
    PRKAG2 0.00 0 No value for column 2
    PRKAR1A 0.00 0 No value for column 2
    SMAD3 0.00 0 No value for column 2
    TBX1 0.00 0 No value for column 2
    TBX20 0.00 0 No value for column 2
    TBX3 0.00 0 No value for column 2
    TBX5 0.00 0 No value for column 2
    TLL1 0.00 0 No value for column 2
    ZFPM2 0.00 0 No value for column 2