Klinische FragestellungPlötzlicher Herztod, Differentialdiagnose [2022]

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Plötzlicher Herztod mit 28 Leitlinien-kuratierten bzw. zusammen genommen 66 kuratierten Genen gemäß klinischer Verdachtsdiagnose

PP0655

Anzahl Loci

Loci-Typ	Anzahl
Gen	59

Akkreditierte Untersuchung

Untersuchte Sequenzlänge

209,8 kb (Core-/Core-canditate-Gene)
256,3 kb (Erweitertes Panel: inkl. additional genes)

Analyse-Dauer

auf Anfrage

Untersuchungsmaterial

EDTA-Blut (3-5 ml)

Diagnostische Hinweise

NGS +

Locipanel

Gen

Name	Exon-Länge (bp)	OMIM-G	Referenz-Seq.	Erbgang
ANK2	11874	106410	NM_001148.6	AD
CACNA1C	6417	114205	NM_000719.7	AD
CACNB2	1821	600003	NM_201590.3	AD
CALM1	450	114180	NM_006888.6	AD
CASQ2	1200	114251	NM_001232.4	AR
DES	1413	125660	NM_001927.4	AD, AR
DMD	11058	300377	NM_004006.3	XLR
DMPK	1920	605377	NM_001081563.2	AD
DSC2	2706	125645	NM_024422.6	AD, AR
DSG2	3357	125671	NM_001943.5	AD
DSP	8616	125647	NM_004415.4	AD, AR
EMD	765	300384	NM_000117.3	XLR
FKRP	1488	606596	NM_024301.5	AR
FLNC	8178	102565	NM_001458.5	AD
JUP	2238	173325	NM_002230.4	AD, AR
KCNH2	3480	152427	NM_000238.4	AD
KCNJ2	1284	600681	NM_000891.3	AD
KCNQ1	2031	607542	NM_000218.3	AD, AR
LDB3	852	605906	NM_001080116.1	AD
LMNA	1995	150330	NM_170707.4	AD
MYBPC3	3825	600958	NM_000256.3	AD, AR
MYH7	5808	160760	NM_000257.4	AD
PKP2	2646	602861	NM_004572.4	AD
RYR2	14904	180902	NM_001035.3	AD
SCN5A	6051	600163	NM_198056.3	AD
TAFAZZIN	879	300394	NM_000116.5	XL
TRDN	2190	603283	NM_006073.4	AR
TTN	100272	188840	NM_001267550.2	AD
ACTC1	1134	102540	NM_005159.5	AD
ACTN2	2685	102573	NM_001103.4	AD
BAG3	1728	603883	NM_004281.4	AD
CALM2	450	114182	NM_001743.6	AD
CALM3	450	114183	NM_005184.4	AD
CDH2	2721	114020	NM_001792.5	AD
CSRP3	585	600824	NM_003476.5	AD
DOLK	1617	610746	NM_014908.4	AR
FHL1	843	300163	NM_001449.5	XL
FHOD3	4320	609691	NM_025135.5	AD
FKTN	1386	607440	NM_001079802.2	AR
GLA	1290	300644	NM_000169.3	XL
HCN4	3612	605206	NM_005477.3	AD
JPH2	2091	605267	NM_020433.5	AD, AR
KCNE1	390	176261	NM_000219.6	AD, AR
LAMP2	1233	309060	NM_002294.3	XL
MYL2	501	160781	NM_000432.4	AD
MYL3	588	160790	NM_000258.3	AD, AR
NEXN	2028	613121	NM_144573.4	AD
NKX2-5	975	600584	NM_004387.4	AD
PLN	159	172405	NM_002667.5	AD
PRKAG2	1710	602743	NM_016203.4	AD
RBM20	3684	613171	NM_001134363.3	AD
TMEM43	1203	612048	NM_024334.3	AD
TNNC1	486	191040	NM_003280.3	AD
TNNI3	633	191044	NM_000363.5	AD, AR
TNNI3K	2508	613932	NM_015978.3	AD
TNNT2	867	191045	NM_001001430.3	AD
TPM1	855	191010	NM_001018005.2	AD
TTR	444	176300	NM_000371.4	AD
VCL	3405	193065	NM_014000.3	AD

Infos zur Erkrankung

Klinischer Kommentar

illness_ClinicalComment_PP0655

Synonyme

Allelic: Atrial fibrillation, familial, 10 (SCN5A)
Allelic: Atrial fibrillation, familial, 3 (KCNQ1)
Allelic: Atrial fibrillation, familial, 9 (KCNJ2)
Allelic: Becker muscular dystrophy (DMD)
Allelic: Duchenne muscular dystrophy (DMD)
Allelic: Heart block, nonprogressive (SCN5A)
Allelic: Heart block, progressive, type IA (SCN5A)
Allelic: Sick sinus syndrome 1 (SCN5A)
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 2 (RYR2)
Arrhythmogenic right ventricular dysplasia 8 (DSP)
Arrhythmogenic right ventricular dysplasia 9 (PKP2)
Barth syndrome (TAZ)
Brugada syndrome 1 (SCN5A)
Brugada syndrome 3 (CACNA1C)
Brugada syndrome 4 (CACNB2)
Cardiac arrhythmia, ankyrin-B-related (ANK2)
Cardiomyopathy, dilated, 1A (LMNA)
Cardiomyopathy, dilated, 1BB (DSG2)
Cardiomyopathy, dilated, 1C, with/-out LVNC (LDB3)
Cardiomyopathy, dilated, 1E (SCN5A)
Cardiomyopathy, dilated, 1G (TTN)
Cardiomyopathy, dilated, 1I (DES)
Cardiomyopathy, dilated, 1MM (MYBPC3)
Cardiomyopathy, dilated, 1S (MYH7)
Cardiomyopathy, dilated, 3B (DMD)
Cardiomyopathy, dilated, with woolly hair + keratoderma (DSP)
Cardiomyopathy, familial hypertrophic, 26 (FLNC)
Cardiomyopathy, familial hypertrophic, 9 (TTN)
Cardiomyopathy, familial restrictive 5 (FLNC)
Cardiomyopathy, hypertrophic, 1 (MYH7)
Cardiomyopathy, hypertrophic, 24 (LDB3)
Cardiomyopathy, hypertrophic, 4 (MYBPC3)
Dilated cardiomyopathy with woolly hair, keratoderma + tooth agenesis (DSP)
Emery-Dreifuss muscular dystrophy 1, XL (EMD)
Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
Hypertrophic cardiomyopathy [MONDO:0005045, panelapp] (TRIM63)
Jervell + Lange-Nielsen syndrome (KCNQ1)
Left ventricular noncompaction 10 (MYBPC3)
Left ventricular noncompaction 3 (LDB3)
Left ventricular noncompaction 5 (MYH7)
Long QT syndrome 1 (KCCNQ1)
Long QT syndrome 1, acquired, susceptibility to (KCNQ1)
Long QT syndrome 14 (CALM1)
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 8 (CACNA1C)
Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 5 (FKRP)
Muscular dystrophy-dystroglycanopathy, cong. with/-out mental retardation, type B, 5 (FKRP)
Myotonic dystrophy 1 (DPMK_CTG)
Naxos disease (JUP)
Restrictive cardiomyopathy [MONDO:0005201, panelapp] (TRIM63)
Short QT syndrome 1 (KCNH2)
Short QT syndrome 2 (KCNQ1)
Short QT syndrome 3 (KCNJ2)
Sudden infant death syndrome, susceptibility to (SCN5A)
Timothy syndrome (CACNA1C)
Ventricular arrythmias due to cardiac RYR2 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)
Ventricular tachycardia, catecholaminergic polymorphic, 5, with/-out muscle weakness (TRDN)

Erbgänge, Vererbungsmuster etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatik und klinische Interpretation

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