IllnessCardiomyopathy, dilatative; differential diagnosis [EMQN 2023]
Summary
Short information
Comprehensive differential diagnostic panel for dilatative Cardiomyopathy containing 19 guideline-curated core and core candidate genes and altogether 38 curated genes according to the clinical signs
ID
KP0890
Number of genes
33
Accredited laboratory test
Examined sequence length
152,1 kb (Core-/Core-canditate-Genes)
207,4 kb (Extended panel: incl. additional genes)
207,4 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
[Sanger]
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
ACTC1 | 1134 | NM_005159.5 | AD | |
ACTN2 | 2685 | NM_001103.4 | AD | |
BAG3 | 1728 | NM_004281.4 | AD | |
DES | 1413 | NM_001927.4 | AD | |
DSP | 8616 | NM_004415.4 | AD, AR | |
FLNC | 8178 | NM_001458.5 | AD | |
JPH2 | 2091 | NM_020433.5 | n.k., AD, AR, co-dominant | |
LMNA | 1995 | NM_170707.4 | AD | |
MYH7 | 5808 | NM_000257.4 | AD | |
NEXN | 2028 | NM_144573.4 | AD | |
PLN | 159 | NM_002667.5 | AD | |
RBM20 | 3684 | NM_001134363.3 | AD | |
SCN5A | 6051 | NM_198056.3 | 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 | |
VCL | 3405 | NM_014000.3 | AD | |
ABCC9 | 4650 | NM_005691.4 | AD | |
CSRP3 | 585 | NM_003476.5 | AD | |
DMD | 11058 | NM_004006.3 | XL | |
DSC2 | 2706 | NM_024422.6 | AD, AR | |
DSG2 | 3357 | NM_001943.5 | AD | |
JUP | 2238 | NM_002230.4 | AD, AR | |
MYBPC3 | 3825 | NM_000256.3 | AD | |
MYH6 | 5820 | NM_002471.4 | AD | |
PKP2 | 2646 | NM_004572.4 | AD | |
RYR2 | 14904 | NM_001035.3 | AD | |
SGCD | 873 | NM_000337.6 | AR, AD | |
TAFAZZIN | 879 | NM_000116.5 | XLR | |
TCAP | 504 | NM_003673.4 | AD | |
TMEM43 | 1203 | NM_024334.3 | AD |
Informations about the disease
Clinical Comment
Definition: Left ventricular or biventricular systolic dysfunction and dilatation that are not explained by abnormal loading conditions or coronary artery disease.
Synonyms
- 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)
Heredity, heredity patterns etc.
- AD
- AR
- XL
- XLR
- co-dominant
- n.k.
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined