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Klinische FragestellungKammerflimmern II, Differentialdiagnose erweitert

Zusammenfassung

Kurzinformation

KP3940_KI

ID
KP3940
Anzahl Loci
Loci-TypAnzahl
Gen32
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
52,8 kb (Core-/Core-canditate-Gene)
215,6 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

KP3940_DH

 

Locipanel

Gen

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
CACNA1C6417NM_000719.7AD
DSG23357NM_001943.5AD
FLNC8178NM_001458.5AD
KCNQ12031NM_000218.3AD
LMNA1995NM_170707.4AD
MYBPC33825NM_000256.3AD, AR
MYH75808NM_000257.4AD
PLN159NM_002667.5AD
RYR214904NM_001035.3AD
SCN5A6051NM_198056.3AD
ABCC94650NM_005691.4AD
ACTC11134NM_005159.5AD
ACTN22685NM_001103.4AD
BAG31728NM_004281.4AD
CALM2450NM_001743.6AD
DMD11058NM_004006.3XL
DSC22706NM_024422.6AD, AR
DSP8616NM_004415.4AD, AR
HCN43612NM_005477.3AD
KCNE1390NM_000219.6AD, AR
KCNH23480NM_000238.4AD
KCNJ21284NM_000891.3AD
LZTR12523NM_006767.4AD, AR
MAP2K21203NM_030662.4AD
NF18457NM_001042492.3AD
NRAS570NM_002524.5AD
PTPN111782NM_002834.5AD
RAF11947NM_002880.4AD
TMEM431203NM_024334.3AD
TPM1855NM_001018005.2AD
TRDN2190NM_006073.4AR
TTN100272NM_001267550.2AD

Infos zur Erkrankung

Synonyme
  • Alias: Idiopathic ventricular fibrillation
  • Alias: Kammerflimmern, familiäres paroxysmales (nicht Brugada-Typ)
  • Alleic: Skin fragility-woolly hair syndrome (DDSP)
  • Allelic: Agenesis of corpus callosum, cardiac, ocular + genital syndrome (CDH2)
  • Allelic: Atrial fibrillation, familial, 10 (SCN5A)
  • Allelic: Atrial septal defect 3 (MYH6)
  • Allelic: Atrial septal defect 5 (ACTC1)
  • Allelic: Attention deficit-hyperactivity disorder 8 (CDH2)
  • Allelic: Brugada syndrome 1 (SCN5A)
  • Allelic: Cardiomyopathy, dilated, 1E (SCN5A)
  • Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
  • Allelic: Epidermolysis bullosa, lethal acantholytic (DSP)
  • Allelic: Epilepsy, idiopathic generalized, susceptibility to, 18 (HCN4)
  • Allelic: Fibromatosis, gingival, 1 (SOS1)
  • Allelic: Glycogen storage disease of heart, lethal congenital (PRKAG2)
  • Allelic: Heart block, nonprogressive (SCN5A)
  • Allelic: Heart block, progressive, type IA (SCN5A)
  • Allelic: Hutchinson-Gilford progeria (LMNA)
  • Allelic: Hypertrichotic osteochondrodysplasia, Cantu syndrome (ABCC9)
  • Allelic: Intellectual disability + myopathy syndrome (ABCC9)
  • Allelic: Keratosis palmoplantaris striata II (DSP)
  • Allelic: Laing distal myopathy (MYH7)
  • Allelic: Leukemia, juvenile myelomonocytic (NF1)
  • Allelic: Leukoencephalopathy, progressive, with ovarian failure (AARS2)
  • Allelic: Lipodystrophy, familial partial, type 2 (LMNA)
  • Allelic: Long QT syndrome 3 (SCN5A)
  • Allelic: Mandibuloacral dysplasia (LMN)
  • Allelic: Metachondromatosis (PTPN11)
  • Allelic: Muscular dystrophy, congenital (LMNA)
  • Allelic: Muscular dystrophy, limb-girdle, AR 10 (TTN)
  • Allelic: Muscular dystrophy, limb-girdle, AR 6 (SGCD)
  • Allelic: Myopathy, XL, with postural muscle atrophy (FHL1)
  • Allelic: Myopathy, congenital with structured cores and Z-line abnormalities (ACTN2)
  • Allelic: Myopathy, distal, 4 (FLNC)
  • Allelic: Myopathy, distal, 6, adult onset (ACTN2)
  • Allelic: Myopathy, myofibrillar, 1 (DES)
  • Allelic: Myopathy, myofibrillar, 5 (FLNC)
  • Allelic: Myopathy, myofibrillar, 6 (BAG3)
  • Allelic: Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
  • Allelic: Myopathy, myosin storage, AD (MYH7)
  • Allelic: Myopathy, myosin storage, AR (MYH7)
  • Allelic: Reducing body myopathy, XL 1a, severe, infantile or early childhood onset (FHL1)
  • Allelic: Reducing body myopathy, XL 1b, with late childhood or adult onset (FHL1)
  • Allelic: Restrictive dermopathy, lethal (LMNA)
  • Allelic: Scapuloperoneal myopathy, XLD (FHL1)
  • Allelic: Scapuloperoneal syndrome, myopathic type (MYH7)
  • Allelic: Scapuloperoneal syndrome, neurogenic, Kaeser type (DES)
  • Allelic: Schwannomatosis-2, susceptibility to (LZTR1)
  • Allelic: Sick sinus syndrome 1 (SCN5A)
  • Allelic: Sudden infant death syndrome, susceptibility to (SCN5A)
  • Allelic: Tibial muscular dystrophy, tardive (TTN)
  • Alstrom syndrome (ALMS1)
  • Andersen syndrome (KCNJ2)
  • Arrhythmogenic right ventricular dysplasia 10 (DSG2)
  • Arrhythmogenic right ventricular dysplasia 11 (DSC2)
  • Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma+ woolly hair (DSC2)
  • Arrhythmogenic right ventricular dysplasia 12 (JUP)
  • Arrhythmogenic right ventricular dysplasia 2 (RYR2)
  • Arrhythmogenic right ventricular dysplasia 5 (TMEM43)
  • Arrhythmogenic right ventricular dysplasia 8 (DSP)
  • Arrhythmogenic right ventricular dysplasia 9 (PKP2)
  • Arrhythmogenic right ventricular dysplasia, familial, 14 (CDH2)
  • Atrial fibrillation, familial, 10 (SCN5A)
  • Atrial fibrillation, familial, 12 (ABCC9)
  • Atrial fibrillation, familial, 3 (KCNQ1)
  • Atrial fibrillation, familial, 4 (KCNE2)
  • Atrial fibrillation, familial, 9 (KCNJ2)
  • Becker muscular dystrophy (DMD)
  • Brugada syndrome 1 (SCN5A)
  • Brugada syndrome 3 (CACNA1C)
  • Brugada syndrome 8 (HCN4)
  • Cardiac conduction disease with/-out dilated cardiomyopathy (TNNI3K)
  • Cardiofaciocutaneous syndrome 4 (MAP2K2)
  • Cardiomyopathy [panelapp] (PDLIM3)
  • Cardiomyopathy, dilated, 1A (LMNA)
  • Cardiomyopathy, dilated, 1AA, with or without LVNC (ACTN2)
  • Cardiomyopathy, dilated, 1BB (DSG2)
  • Cardiomyopathy, dilated, 1CC (NEXN)
  • Cardiomyopathy, dilated, 1DD (RBM20)
  • Cardiomyopathy, dilated, 1E (SCN5A)
  • Cardiomyopathy, dilated, 1EE (MYH6)
  • Cardiomyopathy, dilated, 1G (TTN)
  • Cardiomyopathy, dilated, 1HH (BAG3)
  • Cardiomyopathy, dilated, 1I (DES)
  • Cardiomyopathy, dilated, 1L (SGCD)
  • Cardiomyopathy, dilated, 1MM (MYBPC3)
  • Cardiomyopathy, dilated, 1NN (RAF1)
  • Cardiomyopathy, dilated, 1O (ABCC9)
  • Cardiomyopathy, dilated, 1P (PLN)
  • Cardiomyopathy, dilated, 1R (ACTC1)
  • Cardiomyopathy, dilated, 1S (MYH7)
  • Cardiomyopathy, dilated, 1Y (TPM1)
  • Cardiomyopathy, dilated, 3B (DMD)
  • Cardiomyopathy, dilated, with woolly hair + keratoderma (DSP)
  • Cardiomyopathy, familial hypertrophic, 26 (FLNC)
  • Cardiomyopathy, familial hypertrophic, 28 (FHOD3)
  • Cardiomyopathy, familial hypertrophic, 9 (TTN)
  • Cardiomyopathy, familial restrictive 5 (FLNC)
  • Cardiomyopathy, hypertrophic 6 (PRKAG2)
  • Cardiomyopathy, hypertrophic, 1 (MYH7)
  • Cardiomyopathy, hypertrophic, 11 (ACTC1)
  • Cardiomyopathy, hypertrophic, 14 (MYH6)
  • Cardiomyopathy, hypertrophic, 18 (PLN)
  • Cardiomyopathy, hypertrophic, 20 (NEXN)
  • Cardiomyopathy, hypertrophic, 23, with or without LVNC (ACTN2)
  • Cardiomyopathy, hypertrophic, 3 (TPM1)
  • Cardiomyopathy, hypertrophic, 4 (MYBPC3)
  • Carnitine deficiency, systemic primary (SLC22A5)
  • Combined oxidative phosphorylation deficiency 8 (AARS2)
  • Dilated cardiomyopathy with woolly hair, keratoderma + tooth agenesis (DSP)
  • Duchenne muscular dystrophy (DMD)
  • Emery-Dreifuss muscular dystrophy 1, XL (EMD)
  • Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
  • Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
  • Emery-Dreifuss muscular dystrophy 6, XL (FHL1)
  • Emery-Dreifuss muscular dystrophy 7, AD (TMEM43)
  • Heart block, nonprogressive (SCN5A)
  • Heart block, progressive, type IA (SCN5A)
  • Heart-hand syndrome, Slovenian type (LMNA)
  • Jervell + Lange-Nielsen syndrome (KCNQ1)
  • Jervell + Lange-Nielsen syndrome 2 (KCNE1)
  • Juvenile myelomonocytic leukemia (CBL)
  • LEOPARD syndrome 1 (PTPN11)
  • LEOPARD syndrome 2 (RAF1)
  • Left ventricular noncompaction 10 (MYBPC3)
  • Left ventricular noncompaction 4 (ACTC1)
  • Left ventricular noncompaction 5 (MYH7)
  • Left ventricular noncompaction 9 (TPM1)
  • Long QT syndrome 1 (KCNQ1)
  • Long QT syndrome 1, acquired, susceptibility to (KCNQ1)
  • Long QT syndrome 14 (CALM1)
  • Long QT syndrome 15 (CALM2)
  • Long QT syndrome 16 (CALM3)
  • Long QT syndrome 2 (KCNH2)
  • Long QT syndrome 2, acquired, susceptibility to (KCNH2)
  • Long QT syndrome 3 (SCN5A)
  • Long QT syndrome 5 (KCNE1)
  • Long QT syndrome 6 (KCNE2)
  • Long QT syndrome 8 (CACNA1C)
  • Malouf syndrome (LMN)
  • Mitochondrial complex IV deficiency, nuclear type 13 (COA6)
  • Naxos disease (JUP)
  • Neurofibromatosis, familial spinal (NF1)
  • Neurofibromatosis, type 1 (NF1)
  • Neurofibromatosis-Noonan syndrome (NF1)
  • Noonan syndrome 1 (PTPN11)
  • Noonan syndrome 10 (LZTR1)
  • Noonan syndrome 2 (LZTR1)
  • Noonan syndrome 4 (SOS1)
  • Noonan syndrome 5 (RAF1)
  • Noonan syndrome 6 (NRAS)
  • Noonan syndrome 9 (SOS2)
  • Noonan syndrome-like disorder with/-out juvenile myelomonocytic leukemia (CBL)
  • Salih myopathy (TTN)
  • Short QT syndrome 1 (KCNH2)
  • Short QT syndrome 2 (KCNQ1)
  • Short QT syndrome 3 (KCNJ2)
  • Sick sinus syndrome 1 (SCN5A)(SCN5A)
  • Sick sinus syndrome 2 (HCN4)
  • Sick sinus syndrome 3 (MYH6)
  • Sudden infant death syndrome, susceptibility to (SCN5A)
  • Timothy syndrome (CACNA1C)
  • Uruguay faciocardiomusculoskeletal syndrome (FHL1)
  • Ventricular fibrillation, familial, 1 (SCN5A)
  • Ventricular tachycardia, catecholaminergic polymorphic 6 (CALM3)
  • Ventricular tachycardia, catecholaminergic polymorphic, 1 (RYR2)
  • Ventricular tachycardia, catecholaminergic polymorphic, 4 (CALM1)
  • Ventricular tachycardia, catecholaminergic polymorphic, 5, with/-out muscle weakness (TRDN)
  • Watson syndrome (NF1)
  • Wolff-Parkinson-White syndrome (PRKAG2)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AR
  • XL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

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