|
CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, human ANK2 variants that result in ankyrin-B loss of function are associated with "ankyrin-B syndrome," a complex cardiac phenotype that may include bradycardia and heart rate variability, conduction block, atrial fibrillation, QT interval prolongation, and potentially fatal catecholaminergic polymorphic ventricular tachycardia.
|
28765088 |
2017 |
|
CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
Thus, our data conclude that, similar to previously described ANK2 loss-of-function "point mutations", large chromosomal translocations resulting in ANK2 haploinsufficiency are sufficient to cause the human cardiac ankyrin-B syndrome.
|
27916589 |
2017 |
|
CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED
|
0.750 |
GeneticVariation
|
disease |
CLINVAR |
A subtype of idiopathic ventricular fibrillation and its relevance to catheter ablation and genetic variants.
|
28736713 |
2017 |
|
CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Rare Variants in ANK2 Associated With Various Inherited Arrhythmia Syndromes.
|
27818464 |
2016 |
|
CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED
|
0.750 |
GeneticVariation
|
disease |
CLINVAR |
Phenotypic Variability of ANK2 Mutations in Patients With Inherited Primary Arrhythmia Syndromes.
|
27784853 |
2016 |
|
CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function variants in the ankyrin-B gene (ANK2) cause "ankyrin-B syndrome" (previously called type 4 long QT syndrome), manifested by a complex cardiac phenotype including ventricular arrhythmias and sudden cardiac death.
|
19394342 |
2009 |
|
CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED
|
0.750 |
GeneticVariation
|
disease |
UNIPROT |
Ankyrin-B syndrome: enhanced cardiac function balanced by risk of cardiac death and premature senescence.
|
17940615 |
2007 |
|
CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
Defining the cellular phenotype of "ankyrin-B syndrome" variants: human ANK2 variants associated with clinical phenotypes display a spectrum of activities in cardiomyocytes.
|
17242276 |
2007 |
|
CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED
|
0.750 |
GeneticVariation
|
disease |
CLINVAR |
Analysis of ankyrin-B gene mutations in patients with long QT syndrome.
|
16864073 |
2006 |
|
CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
Human ANK2 mutations are associated with "ankyrin-B syndrome" (an atypical arrhythmia syndrome with risk of sudden cardiac death).
|
16800854 |
2006 |
|
CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Short QT syndrome.
|
16301704 |
2005 |
|
CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED
|
0.750 |
GeneticVariation
|
disease |
UNIPROT |
A cardiac arrhythmia syndrome caused by loss of ankyrin-B function.
|
15178757 |
2004 |
|
CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED
|
0.750 |
GeneticVariation
|
disease |
UNIPROT |
Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death.
|
12571597 |
2003 |
|
CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED
|
0.750 |
GeneticVariation
|
disease |
CLINVAR |
Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death.
|
12571597 |
2003 |
|
CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death.
|
12571597 |
2003 |
|
CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED
|
0.750 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|