Cardiac Arrhythmia, Ankyrin-b-related

Description

Loss-of-function mutations in ANK2 can result in a broad spectrum of clinical cardiac phenotypes. Carriers of some mutations (e.g., E1425G, {106410.0001}) display QT interval prolongation, stress- and/or exercise-induced polymorphic ventricular arrhythmia, syncope, and sudden cardiac death. Patients with other variants show clinical phenotypes, sometimes mild, extending beyond LQTS, leading to the label 'ankyrin-B syndrome.' These phenotypes include bradycardia, sinus arrhythmia, delayed conduction/conduction block, idiopathic ventricular fibrillation, and catecholaminergic polymorphic ventricular tachycardia (Mohler et al., 2007).

Clinical Features

Top most frequent phenotypes and symptoms related to Cardiac Arrhythmia, Ankyrin-b-related

  • Arrhythmia
  • Tachycardia
  • Sudden cardiac death
  • Syncope
  • Atrial fibrillation
  • Bradycardia
  • Ventricular tachycardia
  • Ventricular arrhythmia
  • Ventricular fibrillation
  • Prolonged QT interval

And another 2 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Cardiac Arrhythmia, Ankyrin-b-related Is also known as ankyrin-b syndrome.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Cardiac Arrhythmia, Ankyrin-b-related Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive Cardiac Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RIT1, RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SGCD, SLC22A5, BRAF, SNTA1, SOS1, TAZ, TCAP, TGFB3, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Long QT Syndrome Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RYR2, SCN4B, SCN5A, SNTA1, TRDN, CACNA1C, CALM1, CALM2, CASQ2, CAV3, AKAP9, ANK2, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1
Specificity
6 %
Genes
100 %
Cardiomyopathy Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RYR2, SCN1B, SCN4B, SCN5A, SCO2, SGCD, SKI, BRAF, SNTA1, SOS1, SURF1, TAZ, TCAP, TGFB2, TGFB3, TGFBR1, TGFBR2, TMPO, TNNC1, TNNI3 , (...)

View the complete list with 92 more genes
Specificity
1 %
Genes
100 %
Catecholaminergic Polymorphic Ventricular Tachycardia.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RYR2, TRDN, CALM1, CASQ2, ANK2, KCNJ2
Specificity
17 %
Genes
100 %
Comprehensive Arrhythmias Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RYR2, SCN1B, SCN4B, SCN5A, SNTA1, TRDN, CACNA1C, CACNB2, CALM1, CASQ2, CAV3, HCN4, TRPM4, SCN3B, GPD1L, AKAP9, ANK2, KCNE1, KCNE2, KCNE3 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Long QT Syndrome and Short QT Syndrome.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SCN4B, SCN5A, SNTA1, CACNA1C, CALM1, CAV3, AKAP9, ANK2, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1
Specificity
8 %
Genes
100 %
Long QT Syndrome Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

SCN4B, SCN5A, SNTA1, CACNA1C, CALM1, CAV3, AKAP9, ANK2, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1
Specificity
8 %
Genes
100 %
Cardiac Channelopathy Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SNTA1, TRDN, CACNA1C, CACNA2D1, CACNB2, CALM1, CASQ2, CAV3, SLMAP, HCN4, RANGRF, TRPM4, SCN3B, GPD1L, AKAP9 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %

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Sources and references

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OMIM Rare Disease Search Engine

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