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 |
|---|---|---|---|---|---|---|
| KCNQ1 | KCNQ1:c.1748G>A(p.Arg583His) | Expressivity | Altered severity | Pedigree analysis and gene activity study | KCNQ1-p.R583H, KCNH2-p.K897T, and KCNE1-p.G38S could be LQTS modifiers.more | more |
| KCNQ1:c.386+18089T>C | Penetrance | Altered incidence | From review article | KCNQ1 Polymorphism Acting as a Protective Modifer Against Arrhythmic Risk in Long-QT Syndromemore | more | |
| KCNQ1:c.386+18089T>C | Expressivity | Altered severity | From review article | Reduce QT symptomsmore | more | |
| KCNQ1:rs12296050 | Expressivity | Risk factor | From review article | Risk factormore | more | |
| KCNQ1:c.386+18089T>C | Penetrance | Altered incidence | From review article | Protective effectmore | more | |
| KCNQ1:rs2519184 | Expressivity | Altered severity | From review article | Increase QT symptomsmore | more | |
| KCNQ1:rs757092 | Expressivity | Risk factor | From review article | Risk factormore | more | |
| KCNK17 | KCNK17:rs10947804 | Expressivity | Altered severity | From review article | Reduce QT symptomsmore | more |
| KCNJ2 | KCNJ2:rs17779747 | Penetrance | Altered incidence | From review article | Protective effectmore | more |
| KCNH2 | KCNH2:c.2117C>T(p.Ser706Phe) | Expressivity | Altered density of expressed heterozygous KCNH2 channels | Assessment of genotype–phenotype associations and gene activity study | The S706C (KCNH2) mutation was found to reduce the current density of expressed heterozygous KCNH2 channels with a positive shift (+8 mV) of the activation curve.more | more |