IllnessCardiomyopathy, hypertrophic; differential diagnosis [EMQN 2023]
Summary
Short information
Comprehensive differential diagnostic panel for hypertrophic Cardiomyopathy comprising 8 core genes and altogether 22 curated genes according to the clinical signs
ID
KP1030
Number of genes
22
Accredited laboratory test
Examined sequence length
22,9 kb (Core-/Core-canditate-Genes)
41,9 kb (Extended panel: incl. additional genes)
41,9 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 | |
CSRP3 | 585 | NM_003476.5 | AD | |
FHL1 | 843 | NM_001449.5 | XLR | |
GLA | 1290 | NM_000169.3 | XL | |
JPH2 | 2091 | NM_020433.5 | AD | |
LAMP2 | 1233 | NM_002294.3 | XLR | |
MYBPC3 | 3825 | NM_000256.3 | AD, AR | |
MYH7 | 5808 | NM_000257.4 | AD, digenisch | |
MYL2 | 501 | NM_000432.4 | AD, AR | |
PRKAG2 | 1710 | NM_016203.4 | 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 | |
TTR | 444 | NM_000371.4 | AD | |
ACTN2 | 2685 | NM_001103.4 | AD | |
FHOD3 | 4320 | NM_025135.5 | AD | |
FLNC | 8178 | NM_001458.5 | AD | |
PLN | 159 | NM_002667.5 | AD | |
PTPN11 | 1782 | NM_002834.5 | AD | |
RAF1 | 1947 | NM_002880.4 | AD |
Informations about the disease
Clinical Comment
Condition in which a portion of the heart becomes thickened without an obvious cause, thus the heart being less able to pump blood effectively. Complications include heart failure, an irregular heartbeat, sudden cardiac death
Synonyms
- Alias: Hypertrophic cardiomyopathy (HCM)
- Allelic Cardiomyopathy, familial restrictive, 3 (TNNT2)
- Allelic: Amyloidosis, hereditary, transthyretin-related (TTR)
- Allelic: Atrial septal defect 5 (ACTC1)
- Allelic: Cardiomyopathy, dilated, 1AA, with/-out LVNC (ACTN2)
- Allelic: Cardiomyopathy, dilated, 1D (TNNT2)
- Allelic: Cardiomyopathy, dilated, 1FF (TNNI3)
- Allelic: Cardiomyopathy, dilated, 1M (CSRP3)
- Allelic: Cardiomyopathy, dilated, 1MM (MYBPC3)
- Allelic: Cardiomyopathy, dilated, 1P (PLN)
- Allelic: Cardiomyopathy, dilated, 1R (ACTC1)
- Allelic: Cardiomyopathy, dilated, 1S (MYH7)
- Allelic: Cardiomyopathy, dilated, 1Y (TPM1)
- Allelic: Cardiomyopathy, dilated, 1Z (TNNC1)
- Allelic: Cardiomyopathy, dilated, 2A (TNNI3)
- Allelic: Cardiomyopathy, familial restrictive, 1 (TNNI3)
- Allelic: Carpal tunnel syndrome, familial (TTR)
- Allelic: Dystransthyretinemic hyperthyroxinemia (TTR)
- Allelic: Fabry disease (GLA)
- Allelic: Glycogen storage disease of heart, lethal congenital (PRKAG2)
- Allelic: Laing distal myopathy (MYH7)
- Allelic: Left ventricular noncompaction 10 (MYBPC3)
- Allelic: Left ventricular noncompaction 4 (ACTC1)
- Allelic: Left ventricular noncompaction 5 (MYH7)
- Allelic: Left ventricular noncompaction 6 (TNNT2)
- Allelic: Left ventricular noncompaction 9 (TPM1)
- Allelic: Muscular dystrophy, limb-girdle, AR (TCAP)
- Allelic: Myopathy, congenital, structured cores + Z-line abnormalities (ACTN2)
- Allelic: Myopathy, distal, 6, adult onset (ACTN2)
- Allelic: Myopathy, myosin storage, AD (MYH7)
- Allelic: Myopathy, myosin storage, AR (MYH7)
- Allelic: Restrictive cardiomyopathy [MONDO:000520, panelapp] (TRIM63)
- Allelic: Scapuloperoneal syndrome, myopathic type (MYH7)
- Allelic: Wolff-Parkinson-White syndrome (PRKAG2)
- Cardiomyopathies + heart failure (ANKD1)
- Cardiomyopathy, familial hypertrophic (CAV3)
- Cardiomyopathy, familial hypertrophic 27 (ALPK3)
- Cardiomyopathy, familial hypertrophic, 26 (FLNC)
- 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, 6 (PRKAG2)
- Cardiomyopathy, hypertrophic, 7 (TNNI3)
- Cardiomyopathy, hypertrophic, 8 (MYL3)
- Cardiomyopathy, hypertrophic, 9 (TTN)
- Danon disease (LAMP2)
- Fabry disease, cardiac variant (GLA)
- Hypertrophic cardiomyopathy [MONDO:0005045, panelapp] (TRIM63)
Heredity, heredity patterns etc.
- AD
- AR
- XL
- XLR
- digenisch
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined