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 |
|---|---|---|---|---|---|---|
| KCNH2 | KCNH2:c.2690A>C(p.Lys897Thr) | Expressivity | Risk factor | From review article | Increase risk of cardiac eventsmore | more |
| KCNH2:c.2690A>C(p.Lys897Thr) | 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 | |
| KCNH2:c.2690A>C(p.Lys897Thr) | Penetrance | Altered incidence | From review article | Protective effectmore | more | |
| KCNH2:rs3778873 | Penetrance | Altered incidence | From review article | Protective effectmore | more | |
| KCNH2:rs3807375 | Expressivity | Risk factor | From review article | Risk factormore | more | |
| KCNH2:rs3815459 | Expressivity | Risk factor | From review article | Risk factormore | more | |
| KCNE1 | KCNE1:c.121A>G(p.Ser41Gly) | 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 |
| KCNE1:c.253G>A(p.Asp85Asn) | Expressivity | Risk factor | P<0.0002 | The KCNQ1 rs2074238 T-allele was significantly associated with a decreased risk of symptoms 0.34 (0.19-0.61; P<0.0002) and with shorter QTc (P<0.0001) in the combined discovery and replication cohorts.more | more | |
| KCNE1:c.253G>A(p.Asp85Asn) | Expressivity | Altered severity | From review article | Increase QT symptomsmore | more | |
| KCNE1:c.253G>A(p.Asp85Asn) | Expressivity | Risk factor | P=0.003 | KCNE1 D85N is a sex-specific QT-interval modifier in type 1 LQTS and may also associate with increased severity of disease.more | more |