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 |
|---|---|---|---|---|---|---|
| AKAP9 | AKAP9:c.5764+334G>T | Expressivity | Altered onset time | P=0.006 | The rs2961024 GG genotype, revealed an age-dependent heart rate-corrected QT interval increase (1% per additional 10 years) irrespective of A341V mutation status (P=0.006).more | more |
| ADRB2 | ADRB2:c.893_900dup(p.Glu307_Glu309dup) | Expressivity | Risk factor | From review article | Functional polymorphisms in genes encoding adrenergic receptors (ADRB1, ADRB2 and ADRA2C) may contribute to an increasing arrhythmic risk in Finnish and South African LQT1 founder populationsmore | more |
| ADRB1 | ADRB1:c.145A>G(p.Ser49Gly) | Expressivity | Risk factor | From review article | Functional polymorphisms in genes encoding adrenergic receptors (ADRB1, ADRB2 and ADRA2C) may contribute to an increasing arrhythmic risk in Finnish and South African LQT1 founder populationsmore | more |
| ADRB1:c.1165G>C(p.Gly389Arg) | Expressivity | Risk factor | From review article | Functional polymorphisms in genes encoding adrenergic receptors (ADRB1, ADRB2 and ADRA2C) may contribute to an increasing arrhythmic risk in Finnish and South African LQT1 founder populationsmore | more | |
| ADRA2C | ADRA2C:p.Gly322_Pro325del | Expressivity | Risk factor | From review article | Functional polymorphisms in genes encoding adrenergic receptors (ADRB1, ADRB2 and ADRA2C) may contribute to an increasing arrhythmic risk in Finnish and South African LQT1 founder populationsmore | more |