Disorder "Long QT Syndrome"
Found 65 records
Disorder information
Disorder name:
Long QT Syndrome
Disoder ID:
OMIM entry:
Definition:
Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).
Modifier statisitcs
Record:
65
Gene:
16
Variant:
41
Reference:
11
Effect type:
Expressivity(56)
,Penetrance(9)
Modifier effect:
Risk factor(35)
,Altered severity(19)
,Altered incidence(9)
,Altered density of expressed heterozygous KCNH2 channels(1)
,Altered onset time(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| SNTA1 | SNTA1:rs572545726 | Expressivity | Risk factor | P<0.05 | p.P74L-SNTA1 functionally modify the pathogenic phenotype of p.A257G-SNTA1more | more |
| SCN5A | SCN5A:c.1673A>G(p.His558Arg) | Penetrance | Altered incidence | From review article | Protective effectmore | more |
| SCN5A:c.1673A>G(p.His558Arg) | Expressivity | Altered severity | From review article | Rescue normal phenotype in LQT3more | more | |
| SCN5A:rs12053903 | Expressivity | Risk factor | From review article | Risk factormore | more | |
| REM2 | REM2:c.287G>C(p.Gly96Ala) | Expressivity | Risk factor | From review article | Increase risk of cardiac eventsmore | more |
| PLN | PLN:rs11970286 | Expressivity | Risk factor | From review article | Risk factormore | more |
| PLN:rs12210810 | Penetrance | Altered incidence | From review article | Protective effectmore | more | |
| NOS1AP | NOS1AP:c.106-38510G>T | Expressivity | Risk factor | From review article | Increase risk of cardiac eventsmore | more |
| NOS1AP:c.106-38510G>T | Expressivity | Risk factor | HR=1.63; 95% CI: 1.06 to 2.5; P<0.05 | Whereas rs4657139 and rs10494366 were associated with increased incidence of cardiac eventsmore | more | |
| NOS1AP:c.106-38510G>T | Expressivity | Altered severity | P=8.6×10(-7) | SNPs at NOS1AP (rs10494366, P=9.5×10(-8); rs12143842, P=4.8×10(-7); and rs2880058, P=8.6×10(-7)) were strongly associated with the QTc-interval with marked effectsmore | more |