Klinische FragestellungBrugada-Syndrom [erweitertes panel], Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Brugada Syndrom mit 1 Leitlinien-kuratierten "core"-Gen bzw. insgesamt 42 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
BP0150
Anzahl Gene
18
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
6,1 kb (Core-/Core-canditate-Gene)
45,3 kb (Erweitertes Panel: inkl. additional genes)
45,3 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
---|---|---|---|---|
SCN5A | 6051 | NM_198056.3 | AD | |
ABCC9 | 4650 | NM_005691.4 | Ass | |
CACNA1C | 6417 | NM_000719.7 | AD | |
CACNA2D1 | 3276 | NM_000722.4 | AD | |
CACNB2 | 1821 | NM_201590.3 | AD | |
GPD1L | 1056 | NM_015141.4 | AD | |
KCND3 | 1968 | NM_004980.5 | AD | |
KCNE3 | 312 | NM_005472.5 | Ass | |
KCNE5 | 429 | NM_012282.4 | Ass | |
KCNH2 | 3480 | NM_000238.4 | Ass | |
KCNJ8 | 1275 | NM_004982.4 | AD | |
RANGRF | 561 | NM_016492.5 | AD | |
SCN10A | 5871 | NM_006514.4 | Ass | |
SCN1B | 657 | NM_001037.5 | AR | |
SCN2B | 648 | NM_004588.5 | Ass | |
SCN3B | 648 | NM_018400.4 | AD | |
SLMAP | 2436 | NM_007159.5 | AD | |
TRPM4 | 3645 | NM_017636.4 | Ass |
Infos zur Erkrankung
Klinischer Kommentar
ST-Segment Hebungen rechts präcordial, in-/kompletter Rechtsschenkelblock, Neigung zu ventrikulärer Tachyarrhythmie + plötzlichem Tod; "elektrische Erkrankung" ohne offenkundige myokardiale Abweichungen
Synonyme
- Alias: BGS 1 (SCN5A)
- Alias: BGS; BRGDS; Bangungut; Dream disease; Pokkuri death syndrome
- Alias: Idiopathic ventricular fibrillation, Brugada type
- Alias: Right bundle branch block, ST segment elevation, Sudden death syndrome
- Alias: Sudden unexplained nocturnal death syndrome, SUNDS
- Allelic: Arrhythmogenic right ventricular dysplasia 8 (DSP)
- Allelic: Arrhythmogenic right ventricular dysplasia 9 (PKP2)
- Allelic: Atrial fibrillation, familial, 10 (SCN5A)
- Allelic: Atrial fibrillation, familial, 12 (ABCC9)
- Allelic: Atrial fibrillation, familial, 13 (SCN1B)
- Allelic: Atrial fibrillation, familial, 14 (SCN2B)
- Allelic: Atrial fibrillation, familial, 16 (SCN3B)
- Allelic: Atrial fibrillation, familial, 4 (KCNE2)
- Allelic: Bronchiectasis +/- elevated sweat chloride 2 (SCNN1A)
- Allelic: Cardiac conduction defect, nonspecific (SCN1B)
- Allelic: Cardiomyopathy, dilated, 1 (TTN)
- Allelic: Cardiomyopathy, dilated, 1E (SCN5A)
- Allelic: Cardiomyopathy, dilated, 1O (ABCC9)
- Allelic: Cardiomyopathy, dilated, 1P (PLN) 3
- Allelic: Cardiomyopathy, dilated, with woolly hair + keratoderma (DSP)
- Allelic: Cardiomyopathy, familial hypertrophic, 9 (TTN)
- Allelic: Cardiomyopathy, hypertrophic, 18 (PLN)
- Allelic: Congenital myopathy 5 + cardiomyopathy (TTN)
- Allelic: Developmental and epileptic encephalopathy 110 (CACNA2D1)
- Allelic: Developmental and epileptic encephalopathy 47 (FGF12)
- Allelic: Dilated cardiomyopathy with woolly hair, keratoderma, tooth agenesis (DSP)
- Allelic: Epidermolysis bullosa, lethal acantholytic (DSP)
- Allelic: Epilepsy, gen., febrile seizures plus, 1 (SCN1B)
- Allelic: Epilepsy, idiopathic generalized, susceptibility to, 18 (HNC4)
- Allelic: Epileptic encephalopathy, early infant., 52 (SCN1B)
- Allelic: Episodic pain syndrome, familial, 2 (SCN10A)
- Allelic: Erythroderma, congenital, + palmoplantar keratoderma, hypotrichosis, hyper IgE (DSG1)
- Allelic: Erythrokeratodermia veriabilis et progressiva 6 (TRPM4)
- Allelic: Heart block, nonprogressive (SCN5A)
- Allelic: Heart block, progressive, type IA (SCN5A)
- Allelic: Holt-Oram syndrome (TBX5)
- Allelic: Hyperkalemic periodic paralysis, type 2 (SCN4A)
- Allelic: Hypertrichotic osteochondrodysplasia (ABCC9)
- Allelic: Hypogonadotropic hypogonadism 16 +/- anosmia (SEMA3A)
- Allelic: Hypokalemic periodic paralysis, type 2 (SCN4A)
- Allelic: Hypokalemic tubulopathy and deafness (KCNJ16)
- Allelic: Keratosis palmoplantaris striata I, AD (DSG1)
- Allelic: Keratosis palmoplantaris striata II (DSP)
- Allelic: LQTS2; SQTS1 (KCNH2)
- Allelic: Liddle syndrome 3 (SCNN1A)
- Allelic: Long QT syndrome (CACNA1C)
- Allelic: Long QT syndrome 2 (KCNH2)
- Allelic: Long QT syndrome 3 (SCN5A)
- Allelic: Long QT syndrome 6 (KCNE2)
- Allelic: Muscular dystrophy, limb-girdle, AR 10 (TTN)
- Allelic: Myasthenic syndrome, congenital, 16 (SCN4A)
- Allelic: Myopathy, myofibrillar, 9, + early respiratory failure (TTN)
- Allelic: Myotonia congenita, atypical, acetazolamide-responsive (SCN4A)
- Allelic: Paramyotonia congenita (SCN4A)
- Allelic: Progressive familial heart block, type IB (TRPM4)
- Allelic: Pseudohypoaldosteronism, type IB1, AR (SCNN1A)
- Allelic: Short QT syndrome 1 (KCNH2)
- Allelic: Short stature, developmental delay, and congenital heart defects (TKT)
- Allelic: Sick sinus syndrome 1 (SCN5A)
- Allelic: Sick sinus syndrome 2 (HNC4)
- Allelic: Skin fragility-woolly hair syndrome (DSP)
- Allelic: Spinocerebellar ataxia 19 (KCND3)
- Allelic: Sudden infant death syndrome, susceptibility to (SCN5A)
- Allelic: Tibial muscular dystrophy, tardive (TTN)
- Allelic: Timothy syndrome (CACNA1C)
- Allelic: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release def. s. (RYR2)
- Allelic: Ventricular fibrillation, familial, 1 (SCN5A)
- Allelic: Ventricular tachycardia, catecholaminergic polymorphic, 1 (RYR2)
- Allelic: Ventricular tachycardia, catecholaminergic polymorphic, 2 (CASQ2)
- Brugada syndrome (KCNE5)
- 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 8 (HNC4)
- Brugada syndrome 9 (KCND3)
- Brugada syndrome ass. (CACNA2D1, CASQ2, DSG1, DSP, FGF12, HEY2, KCNAB2, KCNB2, KCND2, KCNE2)
- Brugada syndrome ass. (KCNE5, KCNH2, KCNJ16, KCNJ8, LRRC10, PLN, PKP2, RANGRF, RYR2, SCN10A)
- Brugada syndrome ass. (SCN2B, SCN4A, SCNN10A, SLMAP, TBX5, TKT, TRPM4, TTN, XIRP1, XIRP2)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
- Ass
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
I49.8
Bioinformatik und klinische Interpretation
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