Cardiopathies, hereditary (102 genes) - KUL

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Full name:
Cardiopathies, hereditary (102 genes) - KUL
Abbreviation:
HCMLQT
Description:
MLPA performed for the MYBPC3 gene (only in the context of hypertrophic cardiomyopathy).
Version number:
v3
Laboratory:
Created:
28 Jun 2019 - 09:13
Changed:
06 Sep 2022 - 16:05
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%