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)
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
Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
---|---|---|---|---|
DES | 1413 | NM_001927.4 | AD, AR | |
GLRA1 | 1350 | NM_000171.4 | AD, AR | |
KCNH2 | 3480 | NM_000238.4 | AD | |
KCNJ8 | 1275 | NM_004982.4 | AD | |
MYBPC3 | 3825 | NM_000256.3 | AD | |
PHOX2B | 945 | NM_003924.4 | AD | |
PKP2 | 2646 | NM_004572.4 | AD | |
PPA2 | 1017 | NM_176869.3 | AR | |
TSPYL1 | 1314 | NM_003309.4 | AR | |
ABCC8 | 4746 | NM_000352.6 | AD, AR | |
ACTC1 | 1134 | NM_005159.5 | AD | |
ACTN2 | 2685 | NM_001103.4 | AD | |
APOA1 | 804 | NM_000039.3 | AD, Ass | |
APOA5 | 1101 | NM_052968.5 | AD, AR | |
APOC3 | 300 | NM_000040.3 | AD, Ass | |
ASCL1 | 711 | NM_004316.4 | AD | |
BDNF | 744 | NM_170735.6 | AD | |
CASQ2 | 1200 | NM_001232.4 | AR | |
CAV3 | 456 | NM_033337.3 | AD | |
DSP | 8616 | NM_004415.4 | AD, AR | |
EDN3 | 717 | NM_207034.3 | AD | |
GCK | 1398 | NM_000162.5 | AD, AR | |
GDNF | 636 | NM_000514.4 | AD | |
HFE | 1047 | NM_000410.4 | AR | |
HNF4A | 1359 | NM_175914.4 | AD | |
JUP | 2238 | NM_002230.4 | AD, AR | |
KCNA1 | 1488 | NM_000217.3 | AD | |
KCND2 | 1893 | NM_012281.3 | AD | |
KCND3 | 1968 | NM_004980.5 | AD | |
KCNE3 | 312 | NM_005472.5 | AD | |
KCNJ11 | 1173 | NM_000525.4 | AD, AR | |
KCNQ1 | 2031 | NM_000218.3 | AD, AR | |
LDB3 | 852 | NM_001080116.1 | AD | |
LDLR | 2583 | NM_000527.5 | AD | |
LMNA | 1995 | NM_170707.4 | AD | |
LPL | 1428 | NM_000237.3 | AD, AR | |
MAOA | 1584 | NM_000240.4 | XLR | |
MYH7 | 5808 | NM_000257.4 | AD, AR | |
MYL2 | 501 | NM_000432.4 | AD | |
PCSK9 | 2079 | NM_174936.4 | AD | |
RET | 3345 | NM_020975.6 | AD, Sus | |
RYR2 | 14904 | NM_001035.3 | AD | |
SCN2A | 6018 | NM_021007.3 | AD | |
SLC6A4 | 1893 | NM_001045.6 | AD | |
TCAP | 504 | NM_003673.4 | AD | |
TNNC1 | 486 | NM_003280.3 | AD | |
TNNI3 | 633 | NM_000363.5 | AD, AR | |
TNNT2 | 867 | NM_001001430.3 | AD | |
TPM1 | 855 | NM_001018005.2 | AD | |
TTN | 100272 | NM_001267550.2 | AD | |
TTR | 444 | NM_000371.4 | AD |
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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