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 |
|---|---|---|---|---|---|---|
| KCNE1 | KCNE1:rs1805128 | Expressivity | Risk factor | From review article | Risk factormore | more |
| CNOT3 | CNOT3:rs36643 | Penetrance | Altered incidence | From review article | Protective effectmore | more |
| ATP1B1 | ATP1B1:rs10919071 | Penetrance | Altered incidence | From review article | Protective effectmore | more |
| AKAP9 | AKAP9:c.352-1376G>A | Expressivity | Risk factor | From review article | Increase risk of cardiac eventsmore | more |
| AKAP9:c.352-1376G>A | Expressivity | Risk factor | P=0.046 | The rs7808587 GG genotype was associated with a 74% increase in cardiac event risk (P=0.046)more | more | |
| AKAP9:c.4339-1364C>T | Expressivity | Risk factor | From review article | Reduce risk of cardiac eventsmore | more | |
| AKAP9:c.4339-1364C>T | Expressivity | Risk factor | P=0.001 | The rs2282972 T allele, predominantly represented by the CATT haplotype, decreased risk by 53% (P=0.001).more | more | |
| AKAP9:c.48+11042C>T | Expressivity | Altered severity | From review article | Increase QT symptomsmore | more | |
| AKAP9:c.48+11042C>T | Expressivity | Altered severity | P=0.002 | The rs11772585 T allele increased disease severity (P=0.025).more | more | |
| AKAP9:c.5764+334G>T | Expressivity | Altered severity | From review article | Increase QT symptomsmore | more |