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 |
|---|---|---|---|---|---|---|
| NOS1AP | NOS1AP:c.106-38510G>T | Expressivity | Risk factor | From review article | Risk factormore | more |
| NOS1AP:rs12029454 | Expressivity | Risk factor | P<0.002 | there was an association of rs12029454 with QTc (p<0.002).more | more | |
| NOS1AP:n.162033890C>T | Expressivity | Risk factor | From review article | Risk factormore | more | |
| NOS1AP:rs16857031 | Expressivity | Risk factor | From review article | Risk factormore | more | |
| NOS1AP:n.162029907A>T | Expressivity | Risk factor | From review article | Risk factormore | more | |
| NOS1AP:rs4657178 | Expressivity | Risk factor | From review article | Risk factormore | more | |
| KCNQ1 | KCNQ1:c.*875A>G | Expressivity | Altered severity | From review article | Increase QT symptomsmore | more |
| KCNQ1:c.*875A>G | Expressivity | Risk factor | HR=4.07, 95% CI: (0.25, 15.77), Q=0.276 | SNPs in NOS1AP and KCNQ1 are associated with an increased risk of cardiac events in LQTS patientsmore | more | |
| KCNQ1:c.*932A>G | Expressivity | Altered severity | From review article | Increase symptoms in LQT2more | more | |
| KCNQ1:c.*932A>G | Expressivity | Risk factor | HR=5.73, 95% CI: (1.56, 21.21), q=0.101 | SNPs in NOS1AP and KCNQ1 are associated with an increased risk of cardiac events in LQTS patientsmore | more |