LQT2
MCID: LNG047
MIFTS: 59

Long Qt Syndrome 2 (LQT2)

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Muscle diseases, Rare diseases
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Aliases & Classifications for Long Qt Syndrome 2

MalaCards integrated aliases for Long Qt Syndrome 2:

Name: Long Qt Syndrome 2 57 11 19 73 28 5 43 14 71
Lqt2 57 11 19 73
Long Qt Syndrome, Acquired, Reduced Susceptibility to 57 28
Long Qt Syndrome 2, Acquired, Susceptibility to 28 5
Long Qt Syndrome 1/2 73 5
Long Qt Syndrome 2/3 73 5
Long Qt Syndrome 2/5 73 5
Susceptibility to Acquired Long Qt Syndrome 2 73
Long Qt Syndrome, Acquired, Reduced 57
Qt Syndrome, Long, Type 2 38
Long Qt Syndrome Type 2 75
Long Qt Syndrome 2/9 73
Long Qt Syndrome 1-2 71
Long Qt Syndrome 2-3 71
Long Qt Syndrome 2-5 71
Long Qt Syndrome 9 71
Long Qt Syndrome-2 12
Lqt1/2 73
Lqt2/3 73
Lqt2/5 73
Lqt2/9 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
association of cardiac events with exercise
patients with a more severe phenotype have been reported with mutations in more than 1 lqts-related gene
gei (gene-environment interaction) - association of cardiac events with drug administration
genetic heterogeneity (see lqt1 )


Classifications:



External Ids:

Disease Ontology 11 DOID:0110645
OMIM® 57 613688
OMIM Phenotypic Series 57 PS192500
ICD10 31 I45.8
UMLS 71 C2678485 C3150943 C3501851 more

Summaries for Long Qt Syndrome 2

GARD: 19 Long QT syndrome (LQTS) is a cardiac electrophysiologic disorder, characterized by QT prolongation and T-wave abnormalities on the ECG that are associated with tachyarrhythmias, typically the ventricular tachycardia torsade de pointes (TdP). TdP is usually self-terminating, thus causing a syncopal event, the most common symptom in individuals with LQTS. Such cardiac events typically occur during exercise and emotional stress, less frequently during sleep, and usually without warning. In some instances, TdP degenerates to ventricular fibrillation and causes aborted cardiac arrest (if the individual is defibrillated) or sudden death. Approximately 50% of untreated individuals with a pathogenic variant in one of the genes associated with LQTS have symptoms, usually one to a few syncopal events. While cardiac events may occur from infancy through middle age, they are most common from the preteen years through the 20s. Some types of LQTS are associated with a phenotype extending beyond cardiac arrhythmia. In addition to the prolonged QT interval, associations include muscle weakness and facial dysmorphism in Andersen-Tawil syndrome (LQTS type 7); hand/foot, facial, and neurodevelopmental features in Timothy syndrome (LQTS type 8); and profound sensorineural hearing loss in Jervell and Lange-Nielson syndrome.

MalaCards based summary: Long Qt Syndrome 2, also known as lqt2, is related to long qt syndrome 5 and familial long qt syndrome, and has symptoms including syncope An important gene associated with Long Qt Syndrome 2 is KCNH2 (Potassium Voltage-Gated Channel Subfamily H Member 2), and among its related pathways/superpathways are G-Beta Gamma Signaling and Myometrial relaxation and contraction pathways. The drugs Spironolactone and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, eye and brain, and related phenotypes are sudden cardiac death and syncope

OMIM®: 57 Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999). For a discussion of genetic heterogeneity of long QT syndrome, see LQT1 (192500). (613688) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Deafness is often associated with long QT syndrome type 2.

Disease Ontology: 11 A long QT syndrome that has material basis in dominant inheritance of mutation in the KCNH2 gene on chromosome 7q36.1.

Wikipedia: 75 Long QT syndrome (LQTS) is a condition affecting repolarization (relaxing) of the heart after a... more...

Related Diseases for Long Qt Syndrome 2

Diseases in the Long Qt Syndrome family:

Long Qt Syndrome 1 Long Qt Syndrome 3
Long Qt Syndrome 9 Long Qt Syndrome 10
Long Qt Syndrome 11 Long Qt Syndrome 12
Long Qt Syndrome 13 Long Qt Syndrome 2
Long Qt Syndrome 6 Long Qt Syndrome 5
Long Qt Syndrome 14 Long Qt Syndrome 15
Long Qt Syndrome 8 Long Qt Syndrome 16
Familial Long Qt Syndrome

Diseases related to Long Qt Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 89)
# Related Disease Score Top Affiliating Genes
1 long qt syndrome 5 32.0 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
2 familial long qt syndrome 30.9 SCN5A KCNQ1 KCNH2 KCNE1
3 syncope 30.4 SCN5A RYR2 KCNQ1 KCNH2
4 cardiac arrest 30.4 TRDN SCN5A RYR2 KCNQ1 KCNH2 CASQ2
5 cardiac conduction defect 30.4 SCN5A RYR2 KCNQ1 CACNA1C
6 hypokalemia 30.3 KCNQ1 KCNJ5 KCNH2
7 ventricular fibrillation, paroxysmal familial, 1 30.1 SCN5A RYR2 KCNQ1 KCNJ5 KCNH2 KCNE2
8 lipoprotein quantitative trait locus 30.0 SCN5A RYR2 KCNQ1 KCNJ5 KCNJ2 KCNH2
9 atrioventricular block 30.0 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 KCNE2
10 long qt syndrome 1 30.0 TRDN SNTA1 SCN5A SCN4B RYR2 NOS1AP
11 long qt syndrome 6 29.8 SNTA1 SCN5A SCN4B KCNQ1 KCNJ2 KCNH2
12 dilated cardiomyopathy 29.6 TRDN SNTA1 SCN5A SCN4B RYR2 KCNQ1
13 left ventricular noncompaction 29.6 TRDN SNTA1 SCN5A RYR2 KCNQ1 KCNJ2
14 long qt syndrome 29.6 TRDN SNTA1 SCN5A SCN4B RYR2 NOS1AP
15 long qt syndrome 13 29.4 SNTA1 SCN5A SCN4B NOS1AP KCNQ1 KCNJ5
16 long qt syndrome 3 29.2 TRDN SNTA1 SCN5A SCN4B RYR2 NOS1AP
17 oto-palatal-digital syndrome 10.6
18 familial short qt syndrome 10.4 KCNQ1 KCNJ2 KCNH2
19 toxic myocarditis 10.4 ALG10B ALG10
20 first-degree atrioventricular block 10.3 SCN5A KCNJ2 KCNH2
21 deafness, autosomal recessive 98 10.3 KCNQ1 KCNE2 KCNE1
22 developmental and epileptic encephalopathy 14 10.3 SCN5A KCNQ1 KCNH2
23 second-degree atrioventricular block 10.3 SCN5A KCNH2
24 brugada syndrome 3 10.3 KCNE2 CACNA1C ANK2
25 brugada syndrome 1 10.3 SCN5A RYR2 KCNH2
26 ventricular tachycardia, catecholaminergic polymorphic, 4 10.3 KCNQ1 CALM1
27 diamond-blackfan anemia 3 10.3 SCN5A KCNH2 CALM1
28 progressive familial heart block, type ia 10.3 SCN5A ANK2
29 progressive familial heart block 10.3 SCN5A KCNQ1
30 noonan syndrome with multiple lentigines 10.3 SCN5A RYR2 KCNQ1 KCNH2
31 right bundle branch block 10.3 SCN5A RYR2 KCNH2 CACNA1C
32 sick sinus syndrome 10.3 SCN5A RYR2 KCNE1 CACNA1C
33 isolated elevated serum creatine phosphokinase levels 10.3 SCN5A CAV3 CACNA1C
34 hyperkalemic periodic paralysis 10.3 SCN5A KCNJ5 KCNJ2
35 wolff-parkinson-white syndrome 10.3 SCN5A KCNQ1 KCNH2 CASQ2
36 brugada syndrome 4 10.3 SCN5A KCNQ1 KCNJ2 KCNH2 CACNA1C
37 ventricular tachycardia, catecholaminergic polymorphic, 2 10.3 TRDN RYR2 CASQ2
38 anhidrosis, isolated, with normal sweat glands 10.3 RYR2 CACNA1C
39 familial periodic paralysis 10.3 SCN5A KCNJ5 KCNJ2 CACNA1C
40 generalized epilepsy with febrile seizures plus 10.3 SCN5A SCN4B ANK2
41 congestive heart failure 10.3 SCN5A KCNQ1 KCNJ2 KCNE2
42 trichothiodystrophy 7, nonphotosensitive 10.3 SCN5A KCNH2
43 arrhythmogenic right ventricular dysplasia, familial, 2 10.2 TRDN RYR2
44 rasopathy 10.2 SCN5A RYR2 KCNQ1 KCNH2 CACNA1C
45 left bundle branch hemiblock 10.2 SCN5A RYR2
46 ventricular tachycardia, catecholaminergic polymorphic, 3 10.2 TRDN RYR2 KCNJ2 CASQ2 ANK2
47 malignant hyperthermia 10.1 TRDN SCN5A RYR2 CAV3 CASQ2 CACNA1C
48 cardiomyopathy, familial hypertrophic, 4 10.1 ANK2 AKAP9
49 arrhythmogenic right ventricular cardiomyopathy 10.1 SCN5A RYR2 KCNQ1 KCNH2 CASQ2 CACNA1C
50 sinoatrial node disease 10.1 SCN5A RYR2 KCNQ1 KCNJ2 KCNH2 KCNE2

Graphical network of the top 20 diseases related to Long Qt Syndrome 2:



Diseases related to Long Qt Syndrome 2

Symptoms & Phenotypes for Long Qt Syndrome 2

Human phenotypes related to Long Qt Syndrome 2:

30 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sudden cardiac death 30 Very rare (1%) HP:0001645
2 syncope 30 Very rare (1%) HP:0001279
3 prolonged qtc interval 30 Very rare (1%) HP:0005184
4 notched t wave 30 Very rare (1%) HP:0034303
5 ventricular fibrillation 30 HP:0001663
6 torsade de pointes 30 HP:0001664

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Cardiovascular Heart:
sudden cardiac death
syncope
ventricular fibrillation
torsade de pointes
prolonged qt interval on ekg

Clinical features from OMIM®:

613688 (Updated 08-Dec-2022)

UMLS symptoms related to Long Qt Syndrome 2:


syncope

MGI Mouse Phenotypes related to Long Qt Syndrome 2:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.16 AKAP9 ALG10 ALG10B ANK2 CACNA1C CALM1
2 muscle MP:0005369 10.13 ANK2 CACNA1C CASQ2 CAV3 KCNE1 KCNH2
3 nervous system MP:0003631 10.11 ALG10 ALG10B ANK2 CACNA1C KCNE1 KCNQ1
4 growth/size/body region MP:0005378 10.03 AKAP9 ALG10 ALG10B ANK2 CACNA1C CALM1
5 cardiovascular system MP:0005385 9.83 ALG10 ALG10B ANK2 CACNA1C CALM1 CASQ2
6 behavior/neurological MP:0005386 9.4 ANK2 CACNA1C CALM1 KCNE1 KCNJ2 KCNQ1

Drugs & Therapeutics for Long Qt Syndrome 2

Drugs for Long Qt Syndrome 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Spironolactone Approved 1952-01-7, 52-01-7 5833
2 Neurotransmitter Agents
3 Adrenergic beta-Antagonists
4 Adrenergic Antagonists
5 Adrenergic Agents
6 Hormones
7 Hormone Antagonists
8 Diuretics, Potassium Sparing
9 diuretics
10 Mineralocorticoids
11 Mineralocorticoid Receptor Antagonists

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Double-blind, Placebo-controlled Study to Evaluate the Effect of GS-6615 on QT, Safety and Tolerability in Subjects With Long QT2 Syndrome Completed NCT02365506 Phase 1 Eleclazine;Placebo
2 Exploring Mechanisms and Morphology of QT Interval Prolongation - An Inheritable as Well as an Inducible Phenomenon Completed NCT03291145 Beta Blockers;Spironolactone

Search NIH Clinical Center for Long Qt Syndrome 2

Cochrane evidence based reviews: long qt syndrome 2

Genetic Tests for Long Qt Syndrome 2

Genetic tests related to Long Qt Syndrome 2:

# Genetic test Affiliating Genes
1 Long Qt Syndrome 2 28 ALG10B KCNH2
2 Long Qt Syndrome 2, Acquired, Susceptibility to 28
3 Long Qt Syndrome, Acquired, Reduced Susceptibility to 28

Anatomical Context for Long Qt Syndrome 2

Organs/tissues related to Long Qt Syndrome 2:

MalaCards : Heart, Eye, Brain
ODiseA: Heart-Ventricle, Heart

Publications for Long Qt Syndrome 2

Articles related to Long Qt Syndrome 2:

(show top 50) (show all 616)
# Title Authors PMID Year
1
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 62 57 5
15840476 2005
2
A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. 62 57 5
7889573 1995
3
Modelling the long QT syndrome with induced pluripotent stem cells. 57 5
21240260 2011
4
Fever-induced QTc prolongation and ventricular arrhythmias in individuals with type 2 congenital long QT syndrome. 57 5
18551196 2008
5
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. 57 5
16922724 2006
6
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. 57 5
10220144 1999
7
HERG channel dysfunction in human long QT syndrome. Intracellular transport and functional defects. 57 5
9694858 1998
8
Electrophysiological Characteristics of the LQT2 Syndrome Mutation KCNH2-G572S and Regulation by Accessory Protein KCNE2. 62 5
28082916 2016
9
Follow-up of 316 molecularly defined pediatric long-QT syndrome patients: clinical course, treatments, and side effects. 62 5
26063740 2015
10
Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome. 62 5
25417810 2014
11
Model for long QT syndrome type 2 using human iPS cells demonstrates arrhythmogenic characteristics in cell culture. 62 5
22052944 2012
12
Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. 62 5
19841300 2009
13
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. 62 5
19716085 2009
14
Identification of the gene causing long QT syndrome in an Israeli family. 62 5
19070294 2008
15
Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome. 62 5
18441445 2008
16
Allelic dropout in long QT syndrome genetic testing: a possible mechanism underlying false-negative results. 62 5
16818214 2006
17
Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism. 62 5
16432067 2006
18
Degradation of trafficking-defective long QT syndrome type II mutant channels by the ubiquitin-proteasome pathway. 62 5
15760896 2005
19
Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations. 62 5
14998624 2004
20
Long QT Syndrome 62 5
20301308 2003
21
Defective human Ether-à-go-go-related gene trafficking linked to an endoplasmic reticulum retention signal in the C terminus. 62 5
12021266 2002
22
Pharmacological rescue of human K(+) channel long-QT2 mutations: human ether-a-go-go-related gene rescue without block. 62 57
12070109 2002
23
Unique topographical distribution of M cells underlies reentrant mechanism of torsade de pointes in the long-QT syndrome. 62 57
11889021 2002
24
Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel. 62 57
11854117 2002
25
Characterization of S818L mutation in HERG C-terminus in LQT2. Modification of activation-deactivation gating properties. 62 5
10996323 2000
26
Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effects. 62 5
10862094 2000
27
The dominant negative LQT2 mutation A561V reduces wild-type HERG expression. 62 5
10753933 2000
28
Sinus node function and ventricular repolarization during exercise stress test in long QT syndrome patients with KvLQT1 and HERG potassium channel defects. 62 5
10483966 1999
29
Influence of the genotype on the clinical course of the long-QT syndrome. International Long-QT Syndrome Registry Research Group. 62 57
9753711 1998
30
Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome. 62 5
9544837 1998
31
Functional Assays Reclassify Suspected Splice-Altering Variants of Uncertain Significance in Mendelian Channelopathies. 5
36197721 2022
32
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants. 5
34906502 2022
33
A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability. 5
32238909 2020
34
Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance. 5
30847666 2019
35
Contribution of a KCNH2 variant in genotyped long QT syndrome: Romano-Ward syndrome under double mutations and acquired long QT syndrome under heterozygote. 5
27816319 2017
36
Considerations when using next-generation sequencing for genetic diagnosis of long-QT syndrome in the clinical testing laboratory. 5
27871843 2017
37
Compound Mutations Cause Increased Cardiac Events in Children with Long QT Syndrome: Can the Sequence Homology-Based Tools be Applied for Prediction of Phenotypic Severity? 5
27041096 2016
38
KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1. 5
27041150 2016
39
Functional Characterization of Rare Variants Implicated in Susceptibility to Lone Atrial Fibrillation. 5
26129877 2015
40
Targeted next generation sequencing application in cardiac channelopathies: Analysis of a cohort of autopsy-negative sudden unexplained deaths. 5
26164358 2015
41
Congenital long QT syndrome with compound mutations in the KCNH2 gene. 5
24057343 2014
42
Single nucleotide deletion mutation of KCNH2 gene is responsible for LQT syndrome in a 3-generation Korean family. 5
24015048 2013
43
Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. 5
22949429 2012
44
End-recovery QTc: a useful metric for assessing genetic variants of unknown significance in long-QT syndrome. 5
22429796 2012
45
Cardiac ion channelopathies and the sudden infant death syndrome. 5
23304551 2012
46
Cardiac ion channel mutations in the sudden infant death syndrome. 5
21215473 2011
47
The hERG K(+) channel S4 domain L532P mutation: characterization at 37°C. 5
21777565 2011
48
Genetics of the sudden infant death syndrome. 5
20674198 2010
49
Latent genetic backgrounds and molecular pathogenesis in drug-induced long-QT syndrome. 5
19843919 2009
50
Not all hERG pore domain mutations have a severe phenotype: G584S has an inactivation gating defect with mild phenotype compared to G572S, which has a dominant negative trafficking defect and a severe phenotype. 5
19490267 2009

Variations for Long Qt Syndrome 2

ClinVar genetic disease variations for Long Qt Syndrome 2:

5 (show top 50) (show all 260)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KCNH2 NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) SNV Conflicting Interpretations Of Pathogenicity; Risk Factor
67509 rs36210422 GRCh37: 7:150655537-150655537
GRCh38: 7:150958449-150958449
2 KCNH2 NM_000238.4(KCNH2):c.685G>T (p.Glu229Ter) SNV Pathogenic
180379 rs730880116 GRCh37: 7:150655378-150655378
GRCh38: 7:150958290-150958290
3 KCNH2 NM_000238.4(KCNH2):c.3040C>T (p.Arg1014Ter) SNV Pathogenic
200518 rs794728403 GRCh37: 7:150644528-150644528
GRCh38: 7:150947440-150947440
4 KCNH2 NM_000238.4(KCNH2):c.1841C>T (p.Ala614Val) SNV Pathogenic
29777 rs199472944 GRCh37: 7:150648640-150648640
GRCh38: 7:150951552-150951552
5 KCNH2 NM_000238.4(KCNH2):c.2918del (p.Leu973fs) DEL Pathogenic
858435 rs1800958758 GRCh37: 7:150644741-150644741
GRCh38: 7:150947653-150947653
6 KCNH2 NM_000238.4(KCNH2):c.418del (p.Ser140fs) DEL Pathogenic
1338861 GRCh37: 7:150656714-150656714
GRCh38: 7:150959626-150959626
7 KCNH2 NM_000238.4(KCNH2):c.2775dup (p.Pro926fs) DUP Pathogenic
Pathogenic
200672 rs794728455 GRCh37: 7:150644883-150644884
GRCh38: 7:150947795-150947796
8 KCNH2 NM_000238.4(KCNH2):c.2842C>T (p.Arg948Cys) SNV Pathogenic
14441 rs121912514 GRCh37: 7:150644817-150644817
GRCh38: 7:150947729-150947729
9 KCNH2 NM_000238.4(KCNH2):c.298C>G (p.Arg100Gly) SNV Pathogenic
14442 rs121912515 GRCh37: 7:150671808-150671808
GRCh38: 7:150974720-150974720
10 KCNH2 NM_000238.4(KCNH2):c.1655T>C (p.Leu552Ser) SNV Pathogenic
67225 rs199472918 GRCh37: 7:150648826-150648826
GRCh38: 7:150951738-150951738
11 KCNH2 NM_000238.4(KCNH2):c.453del (p.Thr152fs) DEL Pathogenic
200598 rs761863251 GRCh37: 7:150656679-150656679
GRCh38: 7:150959591-150959591
12 KCNH2 NM_000238.4(KCNH2):c.1801G>A (p.Gly601Ser) SNV Pathogenic
67279 rs199472936 GRCh37: 7:150648680-150648680
GRCh38: 7:150951592-150951592
13 KCNH2 NM_000238.4(KCNH2):c.2230C>T (p.Arg744Ter) SNV Pathogenic
180383 rs189014161 GRCh37: 7:150647424-150647424
GRCh38: 7:150950336-150950336
14 KCNH2 NM_000238.4(KCNH2):c.46del (p.Asp16fs) DEL Pathogenic
638156 rs1584885912 GRCh37: 7:150674956-150674956
GRCh38: 7:150977868-150977868
15 KCNH2 NM_000238.4(KCNH2):c.1229G>A (p.Trp410Ter) SNV Pathogenic
972695 rs199472892 GRCh37: 7:150649841-150649841
GRCh38: 7:150952753-150952753
16 KCNH2 NM_000238.4(KCNH2):c.1967del (p.Phe656fs) DEL Pathogenic
979201 rs1801136696 GRCh37: 7:150648187-150648187
GRCh38: 7:150951099-150951099
17 KCNH2 NM_000238.4(KCNH2):c.1425C>A (p.Tyr475Ter) SNV Pathogenic
1178326 GRCh37: 7:150649645-150649645
GRCh38: 7:150952557-150952557
18 KCNH2 NM_000238.4(KCNH2):c.2399-28del DEL Pathogenic
1064605 GRCh37: 7:150646165-150646165
GRCh38: 7:150949077-150949077
19 KCNH2 NM_000238.4(KCNH2):c.2731_2756dup (p.Ser919fs) DUP Pathogenic
1527874 GRCh37: 7:150644902-150644903
GRCh38: 7:150947814-150947815
20 KCNH2 NM_000238.4(KCNH2):c.1397A>C (p.Asp466Ala) SNV Pathogenic
1527873 GRCh37: 7:150649673-150649673
GRCh38: 7:150952585-150952585
21 KCNH2 NM_000238.4(KCNH2):c.1582_1603del (p.Arg528fs) DEL Pathogenic
1675096 GRCh37: 7:150648878-150648899
GRCh38: 7:150951790-150951811
22 KCNQ1 NM_000218.3(KCNQ1):c.1022C>A (p.Ala341Glu) SNV Pathogenic
3120 rs12720459 GRCh37: 11:2604765-2604765
GRCh38: 11:2583535-2583535
23 SCN5A NM_000335.5(SCN5A):c.5452G>A (p.Asp1818Asn) SNV Pathogenic
9402 rs137854619 GRCh37: 3:38592408-38592408
GRCh38: 3:38550917-38550917
24 KCNE1 NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) SNV Pathogenic
13479 rs1805128 GRCh37: 21:35821680-35821680
GRCh38: 21:34449382-34449382
25 KCNH2 NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val) SNV Pathogenic
14420 rs121912504 GRCh37: 7:150648799-150648799
GRCh38: 7:150951711-150951711
26 KCNH2 NM_000238.4(KCNH2):c.2464G>A (p.Val822Met) SNV Pathogenic
14424 rs121912506 GRCh37: 7:150646072-150646072
GRCh38: 7:150948984-150948984
27 KCNH2 NM_000238.4(KCNH2):c.1882G>A (p.Gly628Ser) SNV Pathogenic
14427 rs121912507 GRCh37: 7:150648599-150648599
GRCh38: 7:150951511-150951511
28 KCNH2 NM_000238.4(KCNH2):c.1744C>T (p.Arg582Cys) SNV Pathogenic
14428 rs121912508 GRCh37: 7:150648737-150648737
GRCh38: 7:150951649-150951649
29 KCNH2 NM_000238.4(KCNH2):c.3003G>A (p.Trp1001Ter) SNV Pathogenic
14431 rs121912509 GRCh37: 7:150644565-150644565
GRCh38: 7:150947477-150947477
30 KCNH2 NM_000238.4(KCNH2):c.2453C>T (p.Ser818Leu) SNV Pathogenic
14432 rs121912510 GRCh37: 7:150646083-150646083
GRCh38: 7:150948995-150948995
31 KCNQ1 NM_000218.3(KCNQ1):c.562del (p.Trp188fs) DEL Pathogenic
53067 rs397508116 GRCh37: 11:2591942-2591942
GRCh38: 11:2570712-2570712
32 KCNQ1 NM_000218.3(KCNQ1):c.728G>C (p.Arg243Pro) SNV Pathogenic
3150 rs120074196 GRCh37: 11:2593287-2593287
GRCh38: 11:2572057-2572057
33 KCNH2 NM_000238.4(KCNH2):c.1408A>G (p.Asn470Asp) SNV Pathogenic
14421 rs121912505 GRCh37: 7:150649662-150649662
GRCh38: 7:150952574-150952574
34 KCNH2 NM_000238.4(KCNH2):c.2398+1G>C SNV Pathogenic
200444 rs794728391 GRCh37: 7:150647255-150647255
GRCh38: 7:150950167-150950167
35 KCNH2 NM_000238.4(KCNH2):c.1778T>G (p.Ile593Arg) SNV Pathogenic
14423 rs28928904 GRCh37: 7:150648703-150648703
GRCh38: 7:150951615-150951615
36 KCNH2 NM_000238.3(KCNH2):c.1498_1524del27 (p.Ile500_Phe508del) DEL Pathogenic
200638 rs794728438 GRCh37: 7:150649546-150649572
GRCh38: 7:150952458-150952484
37 KCNH2 NM_000238.4(KCNH2):c.1261del (p.Thr421fs) DEL Pathogenic
14426 rs1554426258 GRCh37: 7:150649809-150649809
GRCh38: 7:150952721-150952721
38 KCNH2 NM_000238.4(KCNH2):c.1714G>C (p.Gly572Arg) SNV Pathogenic
14429 rs9333649 GRCh37: 7:150648767-150648767
GRCh38: 7:150951679-150951679
39 KCNH2 NM_000238.4(KCNH2):c.193A>C (p.Thr65Pro) SNV Pathogenic
14434 rs121912511 GRCh37: 7:150671913-150671913
GRCh38: 7:150974825-150974825
40 KCNH2 NM_000238.4(KCNH2):c.2255G>A (p.Arg752Gln) SNV Pathogenic
14435 rs121912512 GRCh37: 7:150647399-150647399
GRCh38: 7:150950311-150950311
41 KCNH2 NM_000238.4(KCNH2):c.2592+1G>A SNV Pathogenic
14438 rs1554424772 GRCh37: 7:150645943-150645943
GRCh38: 7:150948855-150948855
42 KCNH2 NM_000238.4(KCNH2):c.2582A>T (p.Asn861Ile) SNV Pathogenic
Pathogenic
14440 rs121912513 GRCh37: 7:150645954-150645954
GRCh38: 7:150948866-150948866
43 KCNH2 NM_000238.4(KCNH2):c.1672G>C (p.Ala558Pro) SNV Pathogenic
14444 rs121912516 GRCh37: 7:150648809-150648809
GRCh38: 7:150951721-150951721
44 KCNH2 NM_000238.4(KCNH2):c.1831T>C (p.Tyr611His) SNV Pathogenic
29778 rs199472942 GRCh37: 7:150648650-150648650
GRCh38: 7:150951562-150951562
45 KCNH2 NM_000238.4(KCNH2):c.656A>T (p.Asp219Val) SNV Pathogenic
157662 rs587777907 GRCh37: 7:150655407-150655407
GRCh38: 7:150958319-150958319
46 KCNH2 NM_000238.4(KCNH2):c.916G>C (p.Gly306Arg) SNV Pathogenic
67543 rs199472884 GRCh37: 7:150655147-150655147
GRCh38: 7:150958059-150958059
47 KCNH2 NM_000238.4(KCNH2):c.1786C>G (p.Pro596Ala) SNV Pathogenic
218093 rs863225288 GRCh37: 7:150648695-150648695
GRCh38: 7:150951607-150951607
48 KCNH2 NM_000238.4(KCNH2):c.2320G>T (p.Asp774Tyr) SNV Pathogenic
67385 rs199472995 GRCh37: 7:150647334-150647334
GRCh38: 7:150950246-150950246
49 KCNH2 NM_000238.4(KCNH2):c.1920C>A (p.Phe640Leu) SNV Pathogenic
67336 rs199472970 GRCh37: 7:150648561-150648561
GRCh38: 7:150951473-150951473
50 KCNH2 NM_000238.4(KCNH2):c.2038del (p.Val680fs) DEL Pathogenic
427944 rs1554425498 GRCh37: 7:150648116-150648116
GRCh38: 7:150951028-150951028

UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 2:

73 (show top 50) (show all 116)
# Symbol AA change Variation ID SNP ID
1 KCNH2 p.Asn470Asp VAR_008578 rs121912505
2 KCNH2 p.Arg534Cys VAR_008579 rs199472916
3 KCNH2 p.Ala561Val VAR_008580 rs121912504
4 KCNH2 p.Arg582Cys VAR_008581 rs121912508
5 KCNH2 p.Ile593Arg VAR_008582 rs28928904
6 KCNH2 p.Gly628Ser VAR_008583 rs121912507
7 KCNH2 p.Val822Met VAR_008584 rs121912506
8 KCNH2 p.Phe29Leu VAR_008907 rs199472830
9 KCNH2 p.Asn33Thr VAR_008908 rs199473487
10 KCNH2 p.Gly53Arg VAR_008909 rs199472842
11 KCNH2 p.Arg56Gln VAR_008910 rs199472845
12 KCNH2 p.Cys66Gly VAR_008911 rs199473416
13 KCNH2 p.His70Arg VAR_008912 rs199473419
14 KCNH2 p.Ala78Pro VAR_008913 rs199472848
15 KCNH2 p.Leu86Arg VAR_008914 rs199472851
16 KCNH2 p.Arg176Trp VAR_008915 rs36210422
17 KCNH2 p.Thr436Met VAR_008916 rs199472901
18 KCNH2 p.Thr474Ile VAR_008917 rs199472906
19 KCNH2 p.Leu552Ser VAR_008918 rs199472918
20 KCNH2 p.Ala558Pro VAR_008919 rs121912516
21 KCNH2 p.Leu564Pro VAR_008920 rs199472924
22 KCNH2 p.Tyr569His VAR_008921 rs199473520
23 KCNH2 p.Gly572Arg VAR_008922 rs9333649
24 KCNH2 p.Gly572Cys VAR_008923 rs9333649
25 KCNH2 p.Gly584Ser VAR_008924 rs199473428
26 KCNH2 p.Asn588Asp VAR_008925 rs199473431
27 KCNH2 p.Gly601Ser VAR_008926 rs199472936
28 KCNH2 p.Gly604Ser VAR_008927 rs199473522
29 KCNH2 p.Tyr611His VAR_008928 rs199472942
30 KCNH2 p.Val612Leu VAR_008929 rs199472943
31 KCNH2 p.Thr613Met VAR_008930 rs199473524
32 KCNH2 p.Ala614Val VAR_008931 rs199472944
33 KCNH2 p.Asn629Asp VAR_008932 rs199472956
34 KCNH2 p.Asn629Lys VAR_008933 rs41307295
35 KCNH2 p.Val630Leu VAR_008934 rs199472958
36 KCNH2 p.Val630Ala VAR_008935 rs199473526
37 KCNH2 p.Asn633Ser VAR_008936 rs199472961
38 KCNH2 p.Phe640Leu VAR_008937 rs199472970
39 KCNH2 p.Ser818Leu VAR_008938 rs121912510
40 KCNH2 p.Asn629Ser VAR_009179 rs199472957
41 KCNH2 p.Gly47Val VAR_009909 rs199473490
42 KCNH2 p.Pro347Ser VAR_009912 rs138776684
43 KCNH2 p.Arg531Gln VAR_009913 rs199473515
44 KCNH2 p.Ile593Thr VAR_009915 rs28928904
45 KCNH2 p.Asp609Asn VAR_009916 rs199472941
46 KCNH2 p.Thr65Pro VAR_014371 rs121912511
47 KCNH2 p.Pro451Leu VAR_014373 rs199472902
48 KCNH2 p.Ala561Thr VAR_014374 rs199472921
49 KCNH2 p.Leu615Val VAR_014375 rs199472945
50 KCNH2 p.Gly626Ser VAR_014376 rs199472953

Expression for Long Qt Syndrome 2

Search GEO for disease gene expression data for Long Qt Syndrome 2.

Pathways for Long Qt Syndrome 2

Pathways related to Long Qt Syndrome 2 according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.46 SCN5A SCN4B KCNJ5 CALM1 CACNA1C
2
Show member pathways
12.32 RYR2 KCNJ5 CASQ2 CALM1 CACNA1C
3
Show member pathways
12.27 TRDN RYR2 CASQ2 CALM1
4
Show member pathways
12.2 TRDN SCN5A SCN4B RYR2 KCNQ1 KCNJ2
5 12.17 KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE2 KCNE1
6 12.06 CAV3 KCNH2 KCNQ1 NOS1AP RYR2 SCN4B
7
Show member pathways
11.96 KCNQ1 KCNJ5 KCNJ2 KCNH2
8 11.47 SCN5A SCN4B RYR2 KCNQ1 KCNJ5 KCNJ2
9 11.15 SCN5A SCN4B CALM1 CACNA1C
10 11.07 SCN5A SCN4B ANK2
11 10.66 KCNQ1 KCNJ2 KCNE1

GO Terms for Long Qt Syndrome 2

Cellular components related to Long Qt Syndrome 2 according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 11.03 ALG10 ALG10B ANK2 CACNA1C CALM1 CAV3
2 membrane GO:0016021 11.03 ALG10 ALG10B CACNA1C KCNE1 KCNE2 KCNH2
3 plasma membrane GO:0005886 10.72 ALG10B ANK2 CACNA1C CALM1 CAV3 KCNE1
4 plasma membrane GO:0005887 10.72 CACNA1C CAV3 KCNH2 KCNJ2
5 sarcolemma GO:0042383 10.07 ANK2 CACNA1C CAV3 NOS1AP RYR2 SCN5A
6 postsynaptic membrane GO:0045211 10.02 SNTA1 KCNJ2 CACNA1C ANK2
7 intercalated disc GO:0014704 10.02 SCN5A SCN4B KCNJ2 CAV3 ANK2
8 sarcoplasmic reticulum membrane GO:0033017 9.97 TRDN RYR2 NOS1AP CASQ2
9 lateral plasma membrane GO:0016328 9.93 SNTA1 SCN5A KCNQ1
10 sarcoplasmic reticulum GO:0016529 9.93 TRDN RYR2 CASQ2
11 calcium channel complex GO:0034704 9.91 RYR2 CASQ2 CALM1
12 T-tubule GO:0030315 9.9 SCN5A NOS1AP KCNJ2 CAV3 CACNA1C ANK2
13 junctional sarcoplasmic reticulum membrane GO:0014701 9.88 CASQ2 RYR2 TRDN
14 Z disc GO:0030018 9.86 ANK2 CACNA1C CASQ2 CAV3 KCNE1 NOS1AP
15 sarcoplasmic reticulum lumen GO:0033018 9.81 TRDN CASQ2
16 potassium channel complex GO:0034705 9.7 KCNQ1 AKAP9
17 voltage-gated potassium channel complex GO:0008076 9.53 KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE2 KCNE1

Biological processes related to Long Qt Syndrome 2 according to GeneCards Suite gene sharing:

(show top 50) (show all 65)
# Name GO ID Score Top Affiliating Genes
1 potassium ion transmembrane transport GO:0071805 10.34 KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE2 KCNE1
2 establishment of localization in cell GO:0051649 10.28 CAV3 RYR2 SCN4B TRDN
3 cellular calcium ion homeostasis GO:0006874 10.27 TRDN RYR2 CASQ2 ANK2
4 potassium ion import across plasma membrane GO:1990573 10.27 KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE2
5 cardiac muscle contraction GO:0060048 10.27 SCN5A SCN4B RYR2 KCNQ1 KCNH2 CASQ2
6 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 10.22 RYR2 CASQ2 CALM1 CACNA1C ANK2
7 cellular response to xenobiotic stimulus GO:0071466 10.21 KCNQ1 KCNH2 KCNE2
8 monoatomic ion transport GO:0006811 10.21 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNJ5
9 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 10.2 AKAP9 ANK2 CAV3 KCNE1 KCNE2 KCNH2
10 cellular response to cAMP GO:0071320 10.19 KCNQ1 KCNE1 AKAP9
11 regulation of cardiac muscle contraction GO:0055117 10.19 RYR2 CAV3 CALM1 ANK2
12 potassium ion export across plasma membrane GO:0097623 10.19 KCNE1 KCNE2 KCNH2 KCNQ1
13 potassium ion transport GO:0006813 10.18 KCNQ1 KCNJ5 KCNJ2 KCNH2 KCNE2 KCNE1
14 positive regulation of potassium ion transmembrane transport GO:1901381 10.18 KCNE1 KCNH2 KCNJ2 KCNQ1 NOS1AP
15 cardiac muscle cell action potential involved in contraction GO:0086002 10.18 CACNA1C KCNE1 KCNE2 KCNJ2 SCN4B SCN5A
16 membrane depolarization during cardiac muscle cell action potential GO:0086012 10.16 SCN5A SCN4B KCNJ2 CACNA1C
17 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 10.16 KCNQ1 KCNJ5 KCNH2 KCNE2 KCNE1
18 membrane repolarization during cardiac muscle cell action potential GO:0086013 10.14 KCNQ1 KCNJ2 KCNH2 KCNE1
19 membrane repolarization during action potential GO:0086011 10.13 KCNQ1 KCNJ2 KCNH2 KCNE2 KCNE1
20 regulation of heart rate GO:0002027 10.13 ANK2 CALM1 CASQ2 CAV3 KCNQ1 RYR2
21 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 10.12 TRDN CASQ2 CALM1
22 regulation of potassium ion transmembrane transport GO:1901379 10.12 KCNH2 KCNE2 KCNE1
23 regulation of release of sequestered calcium ion into cytosol GO:0051279 10.11 TRDN CASQ2 ANK2
24 detection of calcium ion GO:0005513 10.11 CALM1 CASQ2 RYR2
25 regulation of monoatomic ion transmembrane transport GO:0034765 10.11 SCN5A SCN4B KCNQ1 KCNJ5 KCNJ2 KCNH2
26 regulation of cardiac muscle cell contraction GO:0086004 10.1 SCN5A KCNJ2 ANK2
27 regulation of membrane repolarization GO:0060306 10.1 KCNQ1 KCNJ2 KCNH2 KCNE2 CASQ2 AKAP9
28 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 10.09 TRDN CASQ2 CALM1
29 atrial cardiac muscle cell action potential GO:0086014 10.09 SCN5A KCNQ1 ANK2
30 membrane repolarization GO:0086009 10.09 KCNE1 KCNE2 KCNH2 KCNQ1
31 monoatomic ion transmembrane transport GO:0034220 10.06 SCN5A KCNQ1 KCNJ5 KCNH2 CACNA1C
32 regulation of ventricular cardiac muscle cell action potential GO:0098911 10.04 RYR2 CACNA1C
33 cellular response to epinephrine stimulus GO:0071872 10.03 RYR2 KCNQ1
34 cardiac muscle hypertrophy GO:0003300 10.03 RYR2 CAV3
35 cellular response to caffeine GO:0071313 10.03 RYR2 CASQ2
36 negative regulation of potassium ion transmembrane transport GO:1901380 10.03 KCNH2 CAV3
37 regulation of sodium ion transmembrane transport GO:1902305 10.02 SCN5A SNTA1
38 T-tubule organization GO:0033292 10.02 CAV3 ANK2
39 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 10.02 TRDN CALM1
40 regulation of cardiac muscle cell action potential involved in regulation of contraction GO:0098909 10.02 CAV3 AKAP9
41 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 10.02 TRDN RYR2
42 negative regulation of delayed rectifier potassium channel activity GO:1902260 10.02 KCNQ1 KCNE2 KCNE1
43 regulation of cardiac muscle contraction by calcium ion signaling GO:0010882 10.01 ANK2 RYR2
44 regulation of delayed rectifier potassium channel activity GO:1902259 10.01 KCNE2 KCNE1
45 positive regulation of potassium ion transmembrane transporter activity GO:1901018 10.01 ANK2 AKAP9
46 negative regulation of potassium ion transmembrane transporter activity GO:1901017 10.01 CAV3 CASQ2
47 regulation of SA node cell action potential GO:0098907 10 RYR2 ANK2
48 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 10 SCN5A CAV3
49 regulation of cell communication by electrical coupling GO:0010649 10 TRDN CASQ2
50 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 10 KCNQ1 SCN5A

Molecular functions related to Long Qt Syndrome 2 according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 10.22 CACNA1C KCNQ1 RYR2 SCN5A SNTA1
2 scaffold protein binding GO:0097110 10.05 SCN5A KCNQ1 KCNH2
3 potassium channel regulator activity GO:0015459 10.04 KCNE2 KCNE1 AKAP9
4 voltage-gated potassium channel activity GO:0005249 10.02 KCNQ1 KCNH2 KCNE2 KCNE1
5 sodium channel regulator activity GO:0017080 10.01 SNTA1 SCN4B CAV3
6 delayed rectifier potassium channel activity GO:0005251 10.01 KCNE1 KCNE2 KCNH2 KCNQ1
7 protein kinase A regulatory subunit binding GO:0034237 9.99 RYR2 KCNQ1 AKAP9
8 inward rectifier potassium channel activity GO:0005242 9.97 KCNJ5 KCNJ2 KCNH2 KCNE2
9 nitric-oxide synthase binding GO:0050998 9.92 SNTA1 SCN5A NOS1AP CAV3
10 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.86 SCN5A SCN4B
11 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.86 KCNQ1 KCNJ2 KCNH2 KCNE1
12 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization GO:0086089 9.85 KCNQ1 KCNJ5
13 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.85 KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1
14 monoatomic ion channel activity GO:0005216 9.83 SCN5A RYR2 KCNQ1 KCNH2 CACNA1C
15 dolichyl pyrophosphate Glc2Man9GlcNAc2 alpha-1,2-glucosyltransferase activity GO:0106073 9.8 ALG10B ALG10
16 potassium channel activity GO:0005267 9.76 KCNQ1 KCNH2 KCNE2 KCNE1
17 voltage-gated monoatomic ion channel activity GO:0005244 9.7 SCN5A SCN4B KCNQ1 KCNJ5 KCNJ2 KCNH2
18 transmembrane transporter binding GO:0044325 9.68 TRDN SNTA1 SCN5A SCN4B RYR2 KCNQ1

Sources for Long Qt Syndrome 2

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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