Klinische FragestellungKardiomyopathie, dilatative; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für dilatative Kardiomyopathie mit 19 Leitlinien-kuratierten "core "- und "core candidate"-Genen bzw. insgesamt 50 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
KP0890
Anzahl Gene
31
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
159,7 kb (Core-/Core-canditate-Gene)
186,9 kb (Erweitertes Panel: inkl. additional genes)
186,9 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 |
---|---|---|---|---|
BAG3 | 1728 | NM_004281.4 | AD | |
DES | 1413 | NM_001927.4 | AD | |
DSC2 | 2706 | NM_024422.6 | AD, AR | |
DSG2 | 3357 | NM_001943.5 | AD | |
DSP | 8616 | NM_004415.4 | AD, AR | |
JUP | 2238 | NM_002230.4 | AD, AR | |
LMNA | 1995 | NM_170707.4 | AD | |
MYH7 | 5808 | NM_000257.4 | AD | |
PKP2 | 2646 | NM_004572.4 | AD | |
PLN | 159 | NM_002667.5 | AD | |
RBM20 | 3684 | NM_001134363.3 | AD | |
RYR2 | 14904 | NM_001035.3 | AD | |
SCN5A | 6051 | NM_198056.3 | AD | |
TMEM43 | 1203 | NM_024334.3 | 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 | |
ABCC9 | 4650 | NM_005691.4 | AD | |
ACTC1 | 1134 | NM_005159.5 | AD | |
ACTN2 | 2685 | NM_001103.4 | AD | |
CSRP3 | 585 | NM_003476.5 | AD | |
LDB3 | 852 | NM_001080116.1 | AD | |
MYBPC3 | 3825 | NM_000256.3 | AD | |
MYH6 | 5820 | NM_002471.4 | AD | |
NEXN | 2028 | NM_144573.4 | AD | |
SGCD | 873 | NM_000337.6 | AR | |
TAFAZZIN | 879 | NM_000116.5 | XLR | |
TCAP | 504 | NM_003673.4 | AD | |
VCL | 3405 | NM_014000.3 | AD |
Infos zur Erkrankung
Klinischer Kommentar
Linksventrikuläre oder biventrikuläre systolische Dysfunktion und Dilatation, die nicht durch abnorme Belastungszustände oder koronare Herzkrankheit erklärt werden
Synonyme
- Alias: Dilated cardiomyopathy (DCM)
- Allelic: Atrial fibrillation, familial, 10 (SCN5A)
- Allelic: Atrial septal defect 4 (TBX20)
- Allelic: Atrial septal defect 7, with/-out AV conduction defects (NKX2-5)
- Allelic: Brugada syndrome 1 (SCN5A)
- Allelic: Cardiomyopathy, familial hypertrophic, 26 (FLNC)
- Allelic: Cardiomyopathy, familial hypertrophic, 9 (TTN)
- Allelic: Cardiomyopathy, familial restrictive, 1 (TNNI3)
- Allelic: Cardiomyopathy, familial restrictive, 3 (TNNT2)
- Allelic: Cardiomyopathy, hypertrophic [MONDO:0005045, panelapp] (ACTA1)
- Allelic: Cardiomyopathy, hypertrophic, 1 (MYH7)
- Allelic: Cardiomyopathy, hypertrophic, 13 (TNNC1)
- Allelic: Cardiomyopathy, hypertrophic, 17 (JPH2)
- Allelic: Cardiomyopathy, hypertrophic, 18 (PLN)
- Allelic: Cardiomyopathy, hypertrophic, 2 (TNNT2)
- Allelic: Cardiomyopathy, hypertrophic, 23, with or without LVNC (ACTN2)
- Allelic: Cardiomyopathy, hypertrophic, 3 (TPM1)
- Allelic: Cardiomyopathy, hypertrophic, 4 (MYBPC3)
- Allelic: Cardiomyopathy, hypertrophic, 7 (TNNI3)
- Allelic: Centronuclear myopathy 5 (SPEG)
- Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
- Allelic: Conotruncal heart malformations, variable (NKX2-5)
- Allelic: Deafness, AD 10 (EYA4)
- Allelic: Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
- Allelic: Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
- Allelic: HCM, syndromic (LAMP2)
- Allelic: Heart block, nonprogressive (SCN5A)
- Allelic: Heart block, progressive, type IA (SCN5A)
- Allelic: Heart-hand syndrome, Slovenian type (LMNA)
- Allelic: Hutchinson-Gilford progeria (LMNA)
- Allelic: Hypoplastic left heart syndrome 2 (NKX2-5)
- Allelic: Hypothyroidism, congenital nongoitrous, 5 (NKX2-5)
- Allelic: Laing distal myopathy (MYH7)
- Allelic: Left ventricular noncompaction 10 (MYBPC3)
- Allelic: Left ventricular noncompaction 5 (MYH7)
- Allelic: Left ventricular noncompaction 6 (TNNT2)
- Allelic: Left ventricular noncompaction 9 (TPM1)
- Allelic: Lipodystrophy, familial partial, type 2 (LMNA)
- Allelic: Long QT syndrome 3 (SCN5A)
- Allelic: Mandibuloacral dysplasia (LMNA)
- Allelic: Muscular dystrophy, congenital (LMNA)
- Allelic: Muscular dystrophy, limb-girdle, autosomal recessive 10 (TTN)
- Allelic: Myopathy, actin, congenital, with cores (ACTA1)
- Allelic: Myopathy, actin, congenital, with excess of thin myofilaments (ACTA1)
- Allelic: Myopathy, congenital with structured cores and Z-line abnormalities (ACTN2)
- Allelic: Myopathy, congenital, with fiber-type disproportion 1 (ACTA1)
- Allelic: Myopathy, distal, 4 (FLNC)
- Allelic: Myopathy, distal, 6, adult onset (ACTN2)
- Allelic: Myopathy, myofibrillar, 1 (DES)
- Allelic: Myopathy, myofibrillar, 5 (FLNC)
- Allelic: Myopathy, myofibrillar, 6 (BAG3)
- Allelic: Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
- Allelic: Myopathy, myosin storage, AD (MYH7)
- Allelic: Myopathy, myosin storage, AR (MYH7)
- Allelic: Myopathy, scapulohumeroperoneal (ACTA1)
- Allelic: Nemaline myopathy 3, AD/AR (ACTA1)
- Allelic: Restrictive dermopathy, lethal (LMNA)
- Allelic: Salih myopathy (TTN)
- Allelic: Scapuloperoneal syndrome, myopathic type (MYH7)
- Allelic: Scapuloperoneal syndrome, neurogenic, Kaeser type (DES)
- Allelic: Sick sinus syndrome 1 (SCN5A)
- Allelic: Sudden infant death syndrome, susceptibility to (SCN5A)
- Allelic: Tetralogy of Fallot (NKX2-5)
- Allelic: Tibial muscular dystrophy, tardive (TTN)
- Allelic: Ventricular fibrillation, familial, 1 (SCN5A)
- Allelic: Ventricular septal defect 3 (NKX2-5)
- Barth syndrome (TAZ)
- Becker muscular dystrophy (DMD)
- Cardiac conduction disease with/-out dilated cardiomyopathy (TNNI3K)
- Cardio-cutaneous syndrome [panelapp] (PPP1R13L)
- Cardiomyopathy, dilated [MONDO:0005021, panelapp] (ACTA1)
- Cardiomyopathy, dilated [MONDO:0005021] (SPEG)
- Cardiomyopathy, dilated, adult + teen [panelapp] (FKRP)
- Cardiomyopathy, dilated, 1A (LMNA)
- Cardiomyopathy, dilated, 1AA, with or without LVNC (ACTN2)
- Cardiomyopathy, dilated, 1BB (DSG2)
- Cardiomyopathy, dilated, 1C, with or without LVNC (LDB3)
- Cardiomyopathy, dilated, 1CC (NEXN)
- Cardiomyopathy, dilated, 1D (TNNT2)
- Cardiomyopathy, dilated, 1DD (RBM20)
- Cardiomyopathy, dilated, 1DD (SCN5A)
- Cardiomyopathy, dilated, 1EE (MYH6)
- Cardiomyopathy, dilated, 1FF (TNNI3)
- Cardiomyopathy, dilated, 1G (TTN)
- Cardiomyopathy, dilated, 1GG (SDHA)
- Cardiomyopathy, dilated, 1HH (BAG3)
- Cardiomyopathy, dilated, 1I (DES)
- Cardiomyopathy, dilated, 1II (CRYAB)
- Cardiomyopathy, dilated, 1J (EYA4)
- Cardiomyopathy, dilated, 1JJ (LAMA4)
- Cardiomyopathy, dilated, 1KK (MYPN)
- Cardiomyopathy, dilated, 1L (SGCD)
- Cardiomyopathy, dilated, 1LL (PRDM16)
- Cardiomyopathy, dilated, 1M (CSRP3)
- Cardiomyopathy, dilated, 1MM (MYBPC3)
- Cardiomyopathy, dilated, 1NN (RAF1)
- Cardiomyopathy, dilated, 1O (ABCC9)
- Cardiomyopathy, dilated, 1P (PLN)
- Cardiomyopathy, dilated, 1R (ACTC1)
- Cardiomyopathy, dilated, 1S (MYH7)
- Cardiomyopathy, dilated, 1U (PSEN1)
- Cardiomyopathy, dilated, 1V (PSEN2)
- Cardiomyopathy, dilated, 1W (VCL)
- Cardiomyopathy, dilated, 1X (FKTN)
- Cardiomyopathy, dilated, 1Y (TPM1)
- Cardiomyopathy, dilated, 1Z (TNNC1)
- Cardiomyopathy, dilated, 2A (TNNI3)
- Cardiomyopathy, dilated, 2B (GATAD1)
- Cardiomyopathy, dilated, 2C (PPCS)
- Cardiomyopathy, dilated, 2E (JPH2)
- Cardiomyopathy, dilated, 3B (DMD)
- Cardiomyopathy, dilated, AD [panelapp] (ANKRD1)
- Cardiomyopathy, dilated, adult + teen [panelapp] (NKX2-5)
- Cardiomyopathy, dilated, adult + teen [panelapp] (TCX20)
- Cardiomyopathy, familial restrictive 5 (FLNC)
- Congenital disorder of glycosylation, type Im (DOLK)
- DCM, syndromic [panelapp] (DOLK)
- Danon disease (LAMP2)
- Duchenne muscular dystrophy (DMD)
- Emery-Dreifuss muscular dystrophy 1, XL (EMD)
- Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies), type A, 5 (FKRP)
- Muscular dystrophy-dystroglycanopathy, cong. with/-out impaired intell. devel., type B, 5 (FKRP)
- Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 5 (FKRP)
- Sudden cardiac death [panelapp] (PPP1R13L)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
I42.0
Bioinformatik und klinische Interpretation
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