1. Diseases
  2. Familial bicuspid aortic valve

Familial bicuspid aortic valve

Disease Export to PDF
Name:
Familial bicuspid aortic valve
Description:
Familial bicuspid aortic valve is a rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection).
ORPHAcode:
402075
Synonyms:
Familial BAV
XREF(s):
Orphanet
OMIM
OMIM
ICD-10
Analyte(s):
NKX2-5
GATA5
NOTCH1
SMAD6
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Bicuspid aortic valve - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    SMAD6 100.00 1
    NOTCH1 100.00 1
    NKX2-5 100.00 1
    GATA5 100.00 1
    ROBO4 100.00 1
  • 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
  • Familial Thoracic Aortic Aneurysm (21 genes) - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACTA2 100.00 1
    BGN 100.00 1
    COL3A1 100.00 1
    FBN1 100.00 1
    FOXE3 100.00 1
    HCN4 100.00 1
    LOX 100.00 1
    LTBP3 100.00 1
    MAT2A 100.00 1
    MFAP5 100.00 1
    MYH11 100.00 1
    MYLK 100.00 1
    PRKG1 100.00 1
    SMAD2 100.00 1
    SMAD3 100.00 1
    TGFB2 100.00 1
    TGFB3 100.00 1
    TGFBR1 100.00 1
    TGFBR2 100.00 1
    IPO8 100.00 1
    EFEMP2 100.00 1
  • Familial Thoracic Aortic Aneurysm (genepanel) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABL1 100.00 0
    ACTA2 100.00 0
    ARIH1 100.00 0
    ASPH 100.00 0
    BGN 100.00 0
    COL3A1 100.00 0
    EFEMP2 100.00 0
    ELN 100.00 0
    EMILIN1 100.00 0
    FBN1 100.00 1
    FBN2 100.00 0
    FKBP14 100.00 0
    FLNA 100.00 0
    FOXE3 100.00 0
    HCN4 100.00 0
    IPO8 100.00 0
    JAG1 100.00 0
    LMOD1 100.00 0
    LOX 100.00 0
    LTBP3 100.00 0
    MAT2A 100.00 0
    MFAP5 100.00 0
    MYH11 100.00 0
    MYLK 100.00 0
    NOTCH1 100.00 0
    NPR3 100.00 0
    PLOD1 100.00 0
    PMEPA1 100.00 0
    PRKG1 100.00 0
    ROBO4 100.00 0
    SKI 100.00 0
    SLC2A10 100.00 0
    SMAD2 100.00 0
    SMAD3 100.00 0
    SMAD4 100.00 0
    SMAD6 100.00 0
    TBX20 100.00 0
    TGFB2 100.00 0
    TGFB3 100.00 0
    TGFBR1 100.00 0
    TGFBR2 100.00 1
    THSD4 100.00 0