Klinische FragestellungPlötzlicher Tod [<40 Jahren], Differentialdiagnose

NGS +

[Sanger]

Heterogene Gruppe von Erkrankungen

• 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)