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IllnessAtrio-ventricular block, differential diagnosis

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Summary

Short information

A comprehensive panel containing 8 guideline-curated genes and altogether 26 curated genes for Atrio-ventricular block, differential diagnosis, according to the clinical signs

ID
AP3784
Number of genes
8 Accredited laboratory test
Examined sequence length
2,0 kb (Core-/Core-canditate-Genes)
16,2 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
LMNA1995NM_170707.4AD
DES1413NM_001927.4AD
DMPK1920NM_001081563.2AD
GLA1290NM_000169.3XL
HCN43612NM_005477.3AD
KCNH23480NM_000238.4AD
KCNQ12031NM_000218.3AD, AR
TTR444NM_000371.4AD

Informations about the disease

Synonyms
  • Alias: AV-Block
  • Alias: Atrio-ventrikuläre Reizleitungsstörungen
  • Alias: Atrioventricular junction conduction disturbances
  • Allelic: Brachydactyly, type A2 (BMP2)
  • Allelic: Cardiomyopathy, dilated, 1A (LMNA)
  • Allelic: Carpal tunnel syndrome, familial (TTR)
  • Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
  • Allelic: Conotruncal heart malformations, variable (NKX2-5)
  • Allelic: Dystransthyretinemic hyperthyroxinemia (TTR)
  • Allelic: Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
  • Allelic: Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
  • Allelic: Epilepsy, idiopathic generalized, susceptibility to, 18 (HCN4)
  • Allelic: Erythrokeratodermia variabilis et progressiva 6 (TRPM4)
  • Allelic: Generalized epilepsy with febrile seizures plus, type 1 (SCN1B)
  • Allelic: HFE hemochromatosis, modifier of (BMP2)
  • Allelic: Heart-hand syndrome, Slovenian type (LMNA)
  • Allelic: Holt-Oram syndrome (TBX5)
  • Allelic: Hutchinson-Gilford progeria (LMNA)
  • Allelic: Hypoplastic left heart syndrome 2 (NKX2-5)
  • Allelic: Hypothyroidism, congenital nongoitrous, 5 (NKX2-5)
  • Allelic: Lipodystrophy, familial partial, type 2 (LMNA)
  • Allelic: Long QT syndrome 1, acquired, susceptibility to (KCNQ1)
  • Allelic: Malouf syndrome (LMNA)
  • Allelic: Mandibuloacral dysplasia (LMNA)
  • Allelic: Muscular dystrophy, congenital (LMNA)
  • Allelic: Muscular dystrophy, limb-girdle, AR 25 (BVES)
  • Allelic: Restrictive dermopathy 2 (LMNA)
  • Allelic: Scapuloperoneal syndrome, neurogenic, Kaeser type (DES)
  • Allelic: Short stature, facial dysmorphism + skeletal anomalies +/- cardiac anomalies 1 (BMP2)
  • Allelic: Sudden infant death syndrome, susceptibility to (SCN5A)
  • Allelic: Ventricular septal defect 3 (NKX2-5)
  • Amyloidosis, hereditary, transthyretin-related (TTR)
  • Andersen syndrome (KCNJ2)
  • Atrial fibrillation [ESC guidelines] (TBX5)
  • Atrial fibrillation, familial, 10 (SCN5A)
  • Atrial fibrillation, familial, 11 (GJA5)
  • Atrial fibrillation, familial, 13 (SCN1B)
  • Atrial fibrillation, familial, 3 (KCNQ1)
  • Atrial fibrillation, familial, 9 (KCNJ2)
  • Atrial septal defect 3 [ESC guidelines] (TBX5)
  • Atrial septal defect 7, +/- AV conduction defects (NKX2-5)
  • Atrial standstill, digenic (GJA5/SCN5A)
  • Atrioventricular block [ESC guidelines] (BVES)
  • Atrioventricular block [ESC guidelines] (GJA5)
  • Atrioventricular block [ESC guidelines] (KCNK17)
  • Atrioventricular block [ESC guidelines] (LMNA)
  • Atrioventricular block [ESC guidelines] (POPDC2)
  • Atrioventricular block [ESC guidelines] (SCN5A)
  • Atrioventricular block [ESC guidelines] (TBX5)
  • Atrioventricular block [ESC guidelines] (TRPM4)
  • Atrioventricular block {disease} [MONDO:0000465] (DES)
  • Brugada syndrome 1 (SCN5A)
  • Brugada syndrome 3 (CACNA1C)
  • Brugada syndrome 5 (SCN1B)
  • Brugada syndrome 8 (HCN4)
  • Bundle branch block [ESC guidelines] (KCNK17)
  • Bundle branch block [ESC guidelines] (TRPM4)
  • Cardiac conduction defect, nonspecific (SCN1B)
  • Cardiac conduction disease +/- dilated cardiomyopathy (NNI3K)
  • Cardiomyopathy, dilated, 1E (SCN5A)
  • Cardiomyopathy, dilated, 1I (DES)
  • Cardiomyopathy, hypertrophic 6 (PRKAG2)
  • Danon disease (LAMP2)
  • Developmental and epileptic encephalopathy 52 (SCN1B)
  • Emery-Dreifuss muscular dystrophy 1, XL (EMD)
  • Fabry disease (GLA)
  • Fabry disease, cardiac variant (GLA)
  • Glycogen storage disease of heart, lethal congenital (PRKAG2)
  • Heart block, nonprogressive (SCN5A)
  • Heart block, progressive, type IA (SCN5A)
  • Holt-Oram syndrome (TBX5)
  • Jervell and Lange-Nielsen syndrome (KCNQ1)
  • Long QT syndrome 1 (KCNQ1)
  • Long QT syndrome 2 (KCNH2)
  • Long QT syndrome 3 (SCN5A)
  • Long QT syndrome 8 (CACNA1C)
  • Myopathy, myofibrillar, 1 (DES)
  • Myotonic dystrophy 1 (DMPK)
  • Neurodevelopmental disorder with hypotonia, language delay, skeletal defects +/- seizures (CACNA1C)
  • Progressive cardiac conduction defect [ESC guidelines] (KCNK17)
  • Progressive cardiac conduction defect [ESC guidelines] (LMNA)
  • Progressive cardiac conduction defect [ESC guidelines] (TRPM4)
  • Progressive familial heart block, type IB (TRPM4)
  • Short QT syndrome 1 (KCNH2)
  • Short QT syndrome 2 (KCNQ1)
  • Short QT syndrome 3 (KCNJ2)
  • Sick sinus syndrome 1 (SCN5A)
  • Sick sinus syndrome 2 (HCN4)
  • Sinus bradycardia [ESC guidelines] (LMNA)
  • Tetralogy of Fallot (NKX2-5)
  • Timothy syndrome (CACNA1C)
  • Ulnar-mammary syndrome (TBX3)
  • Ventricular fibrillation, familial, 1 (SCN5A)
  • Wolff-Parkinson-White syndrome (PRKAG2)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined