Cardiopathies, hereditary (102 genes) - KUL
Full name: |
Cardiopathies, hereditary (102 genes) - KUL
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Abbreviation: |
HCMLQT
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Description: |
MLPA performed for the MYBPC3 gene (only in the context of hypertrophic cardiomyopathy).
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Version number: |
v3
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Laboratory: | |
Created: |
28 Jun 2019 - 09:13
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Changed: |
06 Sep 2022 - 16:05
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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% |
CFH | 95.00 | 0 | NM_001449.5 / 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% |
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% |
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% |
SLC4A3 | 95.00 | 0 | NM_201574.2 / interpretable range CS1>95% |
SNTA1 | 95.00 | 0 | NM_003098.3 / 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% |
WWTR1 | 95.00 | 0 | NM_000116.5 / interpretable range CS1>95% |