English
ErkrankungVorhofflimmern, familiäres; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Vorhofflimmern, familiäres, mit 14 bzw. zusammen genommen 43 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
VP0070
Anzahl Gene
28
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
103,9 kb (Core-/Basis-Gene)
163,8 kb (Erweitertes Panel)
163,8 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
[[Sanger]]
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Erbgang |
|---|---|---|---|
| KCNQ1 | 2031 | AD und/oder AR und/oder Dig und/oder Sus | |
| TBX5 | 1557 | AD | |
| TTN | 100272 | AD und/oder AR und/oder Dig | |
| ABCC9 | 4650 | AD und/oder Dig | |
| GATA4 | 1329 | AD | |
| GATA5 | 1194 | AD und/oder AR | |
| GATA6 | 1788 | AD | |
| GJA5 | 1077 | AD | |
| HCN4 | 3612 | AD | |
| JPH2 | 2091 | AD | |
| KCNA5 | 1842 | AD und/oder Dig | |
| KCND3 | 1968 | AD | |
| KCNE1 | 390 | AD und/oder AR und/oder Dig | |
| KCNE2 | 372 | AR und/oder Dig | |
| KCNH2 | 3480 | AD und/oder Dig | |
| KCNJ2 | 1284 | AD | |
| KCNJ8 | 1275 | AD | |
| LMNA | 1995 | AD und/oder AR und/oder Dig | |
| MYH6 | 5820 | AD und/oder Sus | |
| MYL4 | 693 | AD | |
| NKX2-5 | 975 | AD | |
| NPPA | 456 | AD | |
| RYR2 | 14904 | AD | |
| SCN1B | 657 | AD und/oder AR | |
| SCN2B | 648 | AD | |
| SCN3B | 648 | AD | |
| SCN4B | 687 | AR | |
| SCN5A | 6051 | AD und/oder AR und/oder Dig |
Infos zur Erkrankung
Klinischer Kommentar
Heterogene Herzerkrankung, erratischer Vorhofaktivierung, unregelmäßiger Ventrikelreaktion; asymptomatisch/assoziiert mit Herzklopfen, Dyspnoe, Benommenheit; häufig begleitende Rhythmusstörungen + Kardiomyopathien
Synonyme
- 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)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AD und/oder AR und/oder Dig
- AD und/oder AR und/oder Dig und/oder Sus
- AD und/oder Dig
- AD und/oder Sus
- AR
- AR und/oder Dig
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
I48.9
Bioinformatik und klinische Interpretation
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