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Klinische FragestellungPlötzlicher Tod [<40 Jahren], Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für "Plötzlicher Tod (<40 Jahren)" mit 10 "core candidate"-Genen bzw. zusammen genommen 111 kuratierten Genen gemäß klinischem Verdacht

ID
PP4333
Anzahl Gene
51 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
17,3 kb (Core-/Core-canditate-Gene)
203,1 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

[Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
DES1413NM_001927.4AD, AR
GLRA11350NM_000171.4AD, AR
KCNH23480NM_000238.4AD
KCNJ81275NM_004982.4AD
MYBPC33825NM_000256.3AD
PHOX2B945NM_003924.4AD
PKP22646NM_004572.4AD
PPA21017NM_176869.3AR
TSPYL11314NM_003309.4AR
ABCC84746NM_000352.6AD, AR
ACTC11134NM_005159.5AD
ACTN22685NM_001103.4AD
APOA1804NM_000039.3AD, Ass
APOA51101NM_052968.5AD, AR
APOC3300NM_000040.3AD, Ass
ASCL1711NM_004316.4AD
BDNF744NM_170735.6AD
CASQ21200NM_001232.4AR
CAV3456NM_033337.3AD
DSP8616NM_004415.4AD, AR
EDN3717NM_207034.3AD
GCK1398NM_000162.5AD, AR
GDNF636NM_000514.4AD
HFE1047NM_000410.4AR
HNF4A1359NM_175914.4AD
JUP2238NM_002230.4AD, AR
KCNA11488NM_000217.3AD
KCND21893NM_012281.3AD
KCND31968NM_004980.5AD
KCNE3312NM_005472.5AD
KCNJ111173NM_000525.4AD, AR
KCNQ12031NM_000218.3AD, AR
LDB3852NM_001080116.1AD
LDLR2583NM_000527.5AD
LMNA1995NM_170707.4AD
LPL1428NM_000237.3AD, AR
MAOA1584NM_000240.4XLR
MYH75808NM_000257.4AD, AR
MYL2501NM_000432.4AD
PCSK92079NM_174936.4AD
RET3345NM_020975.6AD, Sus
RYR214904NM_001035.3AD
SCN2A6018NM_021007.3AD
SLC6A41893NM_001045.6AD
TCAP504NM_003673.4AD
TNNC1486NM_003280.3AD
TNNI3633NM_000363.5AD, AR
TNNT2867NM_001001430.3AD
TPM1855NM_001018005.2AD
TTN100272NM_001267550.2AD
TTR444NM_000371.4AD

Infos zur Erkrankung

Klinischer Kommentar

Heterogene Gruppe von Erkrankungen

 

Synonyme
  • Alias: J-wave syndrome [Brugada + early repolar. s.] with sudden cardiac death
  • Alias: Sudden cardiac arrest
  • Alias: Sudden unexplained death
  • Alias: Unclassified sudden infant death
  • Allelic: 3-hydroxyacyl-CoA dehydrogenase deficiency (HADH)
  • Allelic: Amyotrophic lateral sclerosis 23 (ANXA11)
  • Allelic: Anxiety-related personality traits (SLC6A4)
  • Allelic: ApoA-I and apoC-III deficiency, combined (APOA1)
  • Allelic: Apolipoprotein C-III deficiency (APOC3)
  • Allelic: Aquaporin-1 deficiency (AQP1)
  • Allelic: Atrial septal defect 3 (MYH6)
  • Allelic: Atrial septal defect 5 (ACTC1)
  • Allelic: Blood group, Colton (AQP1)
  • Allelic: Carpal tunnel syndrome, familial (TTR)
  • Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
  • Allelic: Creatine phosphokinase, elevated serum (CAV3)
  • Allelic: Cystic fibrosis lung disease, modifier of (TGFB1)
  • Allelic: Developmental + epileptic encephalopathy 11 (SCN2A)
  • Allelic: Developmental + epileptic encephalopathy 52 (SCN1B)
  • Allelic: Developmental + epileptic encephalopathy 6B, non-Dravet (SCN1A)
  • Allelic: Diabetes mellitus, noninsulin-dependent (ABCC8)
  • Allelic: Diabetes mellitus, noninsulin-dependent (HNF4A)
  • Allelic: Diabetes mellitus, noninsulin-dependent, late onset (GCK)
  • Allelic: Diabetes mellitus, permanent neonatal 1 (GCK)
  • Allelic: Diabetes mellitus, transient neonatal 2 (ABCC8)
  • Allelic: Diabetes mellitus, transient neonatal 3 (KCNJ11)
  • Allelic: Diabetes mellitus, type 2, susceptibility to (KCNJ11)
  • Allelic: Epidermolysis bullosa, lethal acantholytic (DSP)
  • Allelic: Episodic ataxia, type 9 (SCN2A)
  • Allelic: Erythrocyte lactate transporter defect (SLC16a1)
  • Allelic: Febrile seizures, familial, 3A (SCN1A)
  • Allelic: Hemochromatosis (HFE)
  • Allelic: High density lipoprotein cholesterol level QTL 11 (LPL)
  • Allelic: Hirschsprung disease, protection against (RET)
  • Allelic: Hirschsprung disease, susceptibility to, 1 (RET)
  • Allelic: Hirschsprung disease, susceptibility to, 3 (GDNF)
  • Allelic: Hirschsprung disease, susceptibility to, 4 (EDN3)
  • Allelic: Hutchinson-Gilford progeria (LMNA)
  • Allelic: Hyperaldosteronism, familial, type III (KCNJ5)
  • Allelic: Hypercholesterolemia, familial, 1 (LDLR)
  • Allelic: Hyperchylomicronemia, late-onset (APOA5)
  • Allelic: Hypertriglyceridemia, susceptibility to (APOA5)
  • Allelic: Hypoalphalipoproteinemia, primary, 2, with/-out corneal clouding (APOA1)
  • Allelic: Inclusion body myopathy + brain white matter abnormalities (ANXA11)
  • Allelic: Keratosis palmoplantaris striata II (DSP)
  • Allelic: LDL cholesterol level QTL2 (LDLR)
  • Allelic: LPA deficiency, congenital (LPA)
  • Allelic: Laing distal myopathy (MYH7)
  • Allelic: Lipodystrophy, familial partial, type 2 (LMNA)
  • Allelic: Lipoprotein lipase deficiency (LPL)
  • Allelic: Low density lipoprotein cholesterol level QTL 1 (PCSK9)
  • Allelic: MODY, type I (HNF4A)
  • Allelic: MODY, type II (GCK)
  • Allelic: Malouf syndrome (LMNA)
  • Allelic: Mandibuloacral dysplasia (LMNA)
  • Allelic: Maturity-onset diabetes of the young, type 13 (KCNJ11)
  • Allelic: Medullary thyroid carcinoma (RET)
  • Allelic: Migraine, familial hemiplegic, 3 (SCN1A)
  • Allelic: Multiple endocrine neoplasia IIA + IIB (RET)
  • Allelic: Muscular dystrophy, congenital (LMNA)
  • Allelic: Muscular dystrophy, limb-girdle, AR 10 (TTN)
  • Allelic: Muscular dystrophy, limb-girdle, AR 7 (TCAP)
  • Allelic: Myopathy, XL, with postural muscle atrophy (FHL1)
  • Allelic: Myopathy, congenital with structured cores + Z-line abnormalities (ACTN2)
  • Allelic: Myopathy, distal, 6, adult onset (ACTN2)
  • Allelic: Myopathy, distal, Tateyama type (CAV3)
  • Allelic: Myopathy, myofibrillar, 1 (DES)
  • Allelic: Myopathy, myofibrillar, 4 (LDB3)
  • Allelic: Myopathy, myosin storage, AD (MYH7)
  • Allelic: Myopathy, myosin storage, AR (MYH7)
  • Allelic: Nemaline myopathy 11, AR (MYPN)
  • Allelic: Nephrotic syndrome, type 22 (NOS1AP)
  • Allelic: Neuroblastoma with Hirschsprung disease (PHOX2B)
  • Allelic: Neuroblastoma, susceptibility to, 2 (PHOX2B)
  • Allelic: Obsessive-compulsive disorder (SLC6A4)
  • Allelic: Pheochromocytoma, modifier of (GDNF)
  • Allelic: Polyposis, juvenile intestinal (SMAD4)(
  • Allelic: Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated (BMPR2)
  • Allelic: Reducing body myopathy, XL 1a, severe, infantile/early childhood onset (FHL1)
  • Allelic: Reducing body myopathy, XL 1b, with late childhood or adult onset (FHL1)
  • Allelic: Restrictive dermopathy, lethal (LMNA)
  • Allelic: Rippling muscle disease 2 (CAV3)
  • Allelic: Salih myopathy (TTN)
  • Allelic: Sarcoidosis, susceptibility to, 2 (BTNL2)
  • Allelic: Scapuloperoneal myopathy, XLD (FHL1)
  • Allelic: Scapuloperoneal syndrome, myopathic type (MYH7)
  • Allelic: Scapuloperoneal syndrome, neurogenic, Kaeser type (DES)
  • Allelic: Seizures, benign familial infantile, 3 (SCN2A)
  • Allelic: Skin fragility-woolly hair syndrome (DSP)
  • Allelic: Spinocerebellar ataxia 19 (KCND3)
  • Allelic: Tibial muscular dystrophy, tardive (TTN)
  • Allelic: Vesicoureteral reflux 3 (SOX17)
  • Allelic: Waardenburg syndrome, type 4B (EDN3)
  • Amelia, posterior, with pelvic + pulmonary hypoplasia syndrome (TBX4)
  • Amyloidosis, 3 or more types (APOA1)
  • Amyloidosis, hereditary, transthyretin-related (TTR)
  • Andersen syndrome (KCNJ2)
  • Arrhythmogenic right ventricular dysplasia 10 (DSG2)
  • Arrhythmogenic right ventricular dysplasia 11 (DSC2)
  • Arrhythmogenic right ventricular dysplasia 11 + mild palmoplantar keratoderma + woolly hair (DSC2)
  • Arrhythmogenic right ventricular dysplasia 12 611528 AD 3
  • 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, 13 (CTNNA3)
  • Atrial fibrillation, familial, 10 (SCN5A)
  • Atrial fibrillation, familial, 13 (SCN1B)
  • Atrial fibrillation, familial, 16 (SCN3B)
  • Atrial fibrillation, familial, 17 (SCN4B)
  • Atrial fibrillation, familial, 3 (KCNQ1)
  • Atrial fibrillation, familial, 4 (KCNE2)
  • Atrial fibrillation, familial, 9 (KCNJ2)
  • Brugada syndrome 1 (SCN5A)
  • Brugada syndrome 2 (GPD1L)
  • Brugada syndrome 3 (CACNA1C)
  • Brugada syndrome 4 (CACNB2)
  • Brugada syndrome 5 (SCN1B)
  • Brugada syndrome 6 (KCNE3)
  • Brugada syndrome 7 (SCN3B)
  • Brugada syndrome 9 (KCND3)
  • Camurati-Engelmann disease (TGFB1)
  • Cardiac arrhythmia, ankyrin-B-related (ANK2)
  • Cardiac conduction defect, nonspecific (SCN1B)
  • Cardiomyopathy, dilated, 1A (LMNA)
  • Cardiomyopathy, dilated, 1AA, with/-out LVNC (ACTN2)
  • Cardiomyopathy, dilated, 1BB (DSG2)
  • Cardiomyopathy, dilated, 1C, with/-out LVNC (LDB3)
  • Cardiomyopathy, dilated, 1CC (NEXN)
  • Cardiomyopathy, dilated, 1D (TNNT2)
  • Cardiomyopathy, dilated, 1DD (RBM20)
  • Cardiomyopathy, dilated, 1E (SCN5A)
  • Cardiomyopathy, dilated, 1EE (MYH6)
  • Cardiomyopathy, dilated, 1FF (TNNI3)
  • Cardiomyopathy, dilated, 1G (TTN)
  • Cardiomyopathy, dilated, 1I (DES)
  • Cardiomyopathy, dilated, 1KK (MYPN)
  • Cardiomyopathy, dilated, 1M (CSRP3)
  • Cardiomyopathy, dilated, 1MM (MYBPC3)
  • Cardiomyopathy, dilated, 1P (PLN)
  • Cardiomyopathy, dilated, 1R (ACTC1)
  • Cardiomyopathy, dilated, 1S (MYH7)
  • Cardiomyopathy, dilated, 1W (VCL)
  • Cardiomyopathy, dilated, 1Y (TPM1)
  • Cardiomyopathy, dilated, 1Z (TNNC1)
  • Cardiomyopathy, dilated, 2A (TNNI3)
  • Cardiomyopathy, dilated, 2E (JPH2)
  • Cardiomyopathy, dilated, AD [panelapp] (ANKRD1)
  • Cardiomyopathy, dilated, with woolly hair and keratoderma (DSP)
  • Cardiomyopathy, familial hypertrophic (CAV3)
  • Cardiomyopathy, familial hypertrophic, 9 (TTN)
  • Cardiomyopathy, familial restrictive, 1 (TNNI3)
  • Cardiomyopathy, familial restrictive, 3 (TNNT2)
  • Cardiomyopathy, familial restrictive, 4 (MYPN)
  • Cardiomyopathy, hypertrophic, 1 (MYH7)
  • Cardiomyopathy, hypertrophic, 1, digenic (MYLK2)
  • Cardiomyopathy, hypertrophic, 10 (MYL2)
  • Cardiomyopathy, hypertrophic, 11 (ACTC1)
  • Cardiomyopathy, hypertrophic, 12 (CSRP3)
  • Cardiomyopathy, hypertrophic, 13 (TNNC1)
  • Cardiomyopathy, hypertrophic, 14 (MYH6)
  • Cardiomyopathy, hypertrophic, 15 (VCL)
  • Cardiomyopathy, hypertrophic, 16 (MYOZ2)
  • Cardiomyopathy, hypertrophic, 17 (JPH2)
  • Cardiomyopathy, hypertrophic, 18 (PLN)
  • Cardiomyopathy, hypertrophic, 2 (TNNT2)
  • Cardiomyopathy, hypertrophic, 20 (NEXN)
  • Cardiomyopathy, hypertrophic, 22 (MYPN)
  • Cardiomyopathy, hypertrophic, 23, with/-out LVNC (ACTN2)
  • Cardiomyopathy, hypertrophic, 24 (LDB3)
  • Cardiomyopathy, hypertrophic, 25 (TCAP)
  • Cardiomyopathy, hypertrophic, 3 (TPM1)
  • Cardiomyopathy, hypertrophic, 4 (MYBPC3)
  • Cardiomyopathy, hypertrophic, 7 (TNNI3)
  • Cardiomyopathy, hypertrophic, 8 (MYL3)
  • Carpenter syndrome (RAB23)
  • Central hypoventilation syndrome (GDNF)
  • Central hypoventilation syndrome, congenital (ASCL1, EDN3, RET)
  • Central hypoventilation syndrome, congenital, with/-out Hirschsprung disease (PHOX2B)
  • Combined hyperlipidemia, familial (LPL)
  • Coronary artery disease, susceptibility to (LPA)
  • Diabetes mellitus, permanent neonatal 3, with/-out neurologic features (ABCC8)
  • Diabetes, permanent neonatal 2, with or without neurologic features (KCNJ11)
  • Dilated cardiomyopathy with woolly hair, keratoderma + tooth agenesis (DSP)
  • Dravet syndrome (SCN1A)
  • Dystransthyretinemic hyperthyroxinemia (TTR)
  • 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)
  • Episodic ataxia/myokymia syndrome (KCNA1)
  • Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young (HNF4A)
  • Generalized epilepsy with febrile seizures plus, type 1 (SCN1B)
  • Generalized epilepsy with febrile seizures plus, type 2 (SCN1A)
  • Haddad syndrome (ASCL1)
  • Heart block, nonprogressive (SCN5A)
  • Heart block, progressive, type IA (SCN5A)
  • Heart-hand syndrome, Slovenian type (LMNA)
  • Heritable pulmonary arterial hypertension [panelapp] (ATP13A3)
  • Heritable pulmonary arterial hypertension [panelapp] (SMAD1)
  • Heritable pulmonary arterial hypertension [panelapp] (SOX7)
  • Hypercholesterolemia, familial, 3 (PCSK9)
  • Hyperekplexia 1 (GLRA1)
  • Hyperinsulinemic hypoglycemia, familial, 1 (ABCC8)
  • Hyperinsulinemic hypoglycemia, familial, 2 (KCNJ11)
  • Hyperinsulinemic hypoglycemia, familial, 3 (GCK)
  • Hyperinsulinemic hypoglycemia, familial, 4 (HADH)
  • Hyperinsulinemic hypoglycemia, familial, 7 (SLC16A1)
  • Hyperinsulinism [MONDO:0002177] (UCP2)
  • Hyperinsulinism-hyperammonemia syndrome (GLUD1)
  • Hypertrophic cardiomyopathy [MONDO:0005045] (TRIM63)
  • Hypoglycemia of infancy, leucine-sensitive (ABCC8)
  • Inflammatory bowel disease, immunodeficiency + encephalopathy (TGFB1)
  • Ischiocoxopodopatellar syndrome with/-out pulmonary arterial hypertension (TBX4)
  • Jervell + Lange-Nielsen syndrome (KCNQ1)
  • Jervell + Lange-Nielsen syndrome 2 (KCNE1)
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (SMAD4)
  • Left ventricular noncompaction 10 (MYBPC3)
  • Left ventricular noncompaction 3 (LDB3)
  • Left ventricular noncompaction 4 (ACTC1)
  • Left ventricular noncompaction 5 (MYH7)
  • Left ventricular noncompaction 6 (TNNT2)
  • Left ventricular noncompaction 9 (TPM1)
  • Long QT syndrome 1 (KCNQ1)
  • Long QT syndrome 1, acquired, susceptibility to (KCNQ1)
  • Long QT syndrome 10 (SCN4B)
  • Long QT syndrome 11 (AKAP9)
  • Long QT syndrome 13 (KCNJ5)
  • Long QT syndrome 14 (CALM1)
  • Long QT syndrome 15 (CALM2)
  • Long QT syndrome 2 (KCNH2)
  • Long QT syndrome 2, acquired, susceptibility to (KCNH2)
  • Long QT syndrome 3 (SCN5A)
  • Long QT syndrome 4 (ANK2)
  • Long QT syndrome 5 (KCNE1)
  • Long QT syndrome 6 (KCNE2)
  • Long QT syndrome 8 (CACNA1C)
  • Long QT syndrome 9 (CAV3)
  • Monocarboxylate transporter 1 deficiency (SLC16A1)
  • Myhre syndrome (SMAD4)
  • Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy (MYL2)
  • Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
  • Naxos disease: cardiomyopathy, arrhythm. right ventricular + skin, hair, nail abnormalities (JPH2)
  • Obesity, susceptibility to, BMIQ4 (UCP2)
  • Pheochromocytoma (RET)
  • Predictor of outcome in chest-pain patients with suspected acute coronary s. [LIT.] (ANGPTL4)
  • Pulmonary hypertension, familial primary, 1, with/-out HHT (BMPR2)
  • Pulmonary hypertension, primary, 2 (SMAD9)
  • Pulmonary venoocclusive disease 1 (BMPR2)
  • Restrictive cardiomyopathy [MONDO:0005201] (TRIM63)
  • Short QT syndrome 1 (KCNH2)
  • Short QT syndrome 2 (KCNQ1)
  • Short QT syndrome 3 (KCNJ2)
  • Sick sinus syndrome 1 (SCN5A)
  • Sick sinus syndrome 3 (MYH6)
  • Sudden Infant Death Syndrome, SIDS (MAOA, SLC6A4)
  • Sudden cardiac death (KCND2, KCND3)
  • Sudden cardiac failure, alcohol-induced (PPA2)
  • Sudden cardiac failure, infantile (PPA2)
  • Sudden death in young people (SLC6A4)
  • Sudden fetal + infant death (BDNF)
  • Sudden infant death syndrome [panelapp] (KCNJ8)
  • Sudden infant death syndrome, susceptibility to (SCN5A)
  • Sudden infant death with dysgenesis of the testes syndrome (TSPYL1)
  • Telangiectasia, hereditary hemorrhagic, type 1 (ENG)
  • Telangiectasia, hereditary hemorrhagic, type 2 (ACVRL1)
  • Telangiectasia, hereditary hemorrhagic, type 5 (GDF2)
  • Timothy syndrome (CACNA1C)
  • Uruguay faciocardiomusculoskeletal syndrome (FHL1)
  • Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome (RYR2)
  • Ventricular fibrillation, familial, 1 (SCN5A)
  • Ventricular tachycardia, catecholaminergic polymorphic, 1 (RYR2)
  • Ventricular tachycardia, catecholaminergic polymorphic, 2 (CASQ2)
  • Ventricular tachycardia, catecholaminergic polymorphic, 4 (CALM1)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AR
  • Ass
  • Sus
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

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