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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessAtrial fibrillation, familial

Summary

Short information

Comprehensive differential diagnostic panel for Atrial fibrillation, familial, comprising 3 core and core candidate genes and altogether 29 curated genes according to the clinical signs

ID
VP0070
Number of genes
28 Accredited laboratory test
Examined sequence length
103,9 kb (Core-/Core-canditate-Genes)
163,8 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[[Sanger]]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
KCNQ12031NM_000218.3AD
TBX51557NM_000192.3AD
TTN100272NM_001267550.2AD
ABCC94650NM_005691.4AD
GATA41329NM_002052.5AD
GATA51194NM_080473.5AD, AR
GATA61788NM_005257.6AD
GJA51077NM_005266.7AD
HCN43612NM_005477.3AD
JPH22091NM_020433.5AD, AR
KCNA51842NM_002234.4AD
KCND31968NM_004980.5AD
KCNE1390NM_000219.6AD, AR
KCNE2372NM_172201.2AD
KCNH23480NM_000238.4AD
KCNJ21284NM_000891.3AD
KCNJ81275NM_004982.4AD
LMNA1995NM_170707.4n.k.
MYH65820NM_002471.4AD
MYL4693NM_001002841.2AD
NKX2-5975NM_004387.4AD
NPPA456NM_006172.4AD
RYR214904NM_001035.3AD
SCN1B657NM_001037.5AD
SCN2B648NM_004588.5AD
SCN3B648NM_018400.4AD
SCN4B687NM_174934.4AR
SCN5A6051NM_198056.3AD

Informations about the disease

Clinical Comment

Heterogenous cardiac disease with erratic atrial activation, irregular ventricular response, in family members; asymptomatic/associated with palpitations, dyspnea light-headedness. Concomitant rhythm disorders and cardiomyopathies are frequently reported

 

Synonyms
  • Allelic: Andersen syndrome (KCNJ2)
  • Allelic: Brugada syndrome 1 (SCN5A)
  • Allelic: Brugada syndrome 5 (SCN1B)
  • Allelic: Brugada syndrome 7 (SCN3B)
  • Allelic: Developmental + epileptic encephalopathy 52 (SCN1B)
  • Allelic: Epidermolysis bullosa simplex 5A, Ogna type (PLEC)
  • Allelic: Epidermolysis bullosa simplex 5B, with muscular dystrophy (PLEC)
  • Allelic: Epilepsy, generalized, with febrile seizures plus, type 1 (SCN1B)
  • Allelic: Heart block, nonprogressive (SCN5A)
  • Allelic: Heart block, progressive, type IA (SCN5A)
  • Allelic: Hypertrichotic osteochondrodysplasia (ABCC9)
  • Allelic: Jervell + Lange-Nielsen syndrome (KCNQ1)
  • Allelic: Long QT syndrome 1 (KCNQ1)
  • Allelic: Long QT syndrome 1, acquired, susceptibility to (KCNQ1)
  • Allelic: Long QT syndrome 10 (SCN4B)
  • Allelic: Long QT syndrome 3 (SCN5A)
  • Allelic: Long QT syndrome 6 (KCNE2)
  • Allelic: Muscular dystrophy, limb-girdle, AR 10 (TTN)
  • Allelic: Muscular dystrophy, limb-girdle, AR 17 (PLEC)
  • Allelic: Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
  • Allelic: Salih myopathy (TTN)
  • Allelic: Short QT syndrome 2 (KCNQ1)
  • Allelic: Short QT syndrome 3 (KCNJ2)
  • Allelic: Sick sinus syndrome 1 (SCN5A)
  • Allelic: Sudden infant death syndrome, susceptibility to (SCN5A)
  • Allelic: Tibial muscular dystrophy, tardive (TTN)
  • Allelic: Ventricular fibrillation, familial, 1 (SCN5A)
  • Allelic:: Epidermolysis bullosa simplex 5C, with pyloric atresia (PLEC)
  • Allelic:: Epidermolysis bullosa simplex 5D, generalized intermediate, AR (PLEC)
  • Atrial fibrillation 15 (NUPP155)
  • Atrial fibrillation, familial [ATFB]
  • Atrial fibrillation, familial, 10 (SCN5A)
  • Atrial fibrillation, familial, 11 (GJA5)
  • Atrial fibrillation, familial, 12 (ABCC9)
  • Atrial fibrillation, familial, 13 (SCN1B)
  • Atrial fibrillation, familial, 14 (SCN2B)
  • Atrial fibrillation, familial, 16 (SCN3B)
  • Atrial fibrillation, familial, 17 (SCN4B)
  • Atrial fibrillation, familial, 18 (MYL4)
  • Atrial fibrillation, familial, 3 (KCNQ1)
  • Atrial fibrillation, familial, 4 (KCNE2)
  • Atrial fibrillation, familial, 6 (NPPA)
  • Atrial fibrillation, familial, 7 (KCNA5)
  • Atrial fibrillation, familial, 9 (KCNJ2)
  • Atrial standstill 2 (NPPA)
  • Atrial standstill, digenic (GJA5/SCN5A)
  • Cardiac conduction defect, nonspecific (SCN1B)
  • Cardiomyopathy, dilated, 1E (SCN5A)
  • Cardiomyopathy, dilated, 1G (TTN)
  • Cardiomyopathy, dilated, 1O (ABCC9)
  • Cardiomyopathy, familial hypertrophic, 9 (TTN)
  • Holt-Oram syndrome (TBX5)
Heredity, heredity patterns etc.
  • AD
  • AR
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined