IllnessCardiomyopathy, restrictive; differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Cardiomyopathy, restrictive, containing 5 core-candidate genes and altogether 32 curated genes according to the clinical symptomatology
ID
RP0922
Number of genes
28
Accredited laboratory test
Examined sequence length
16,9 kb (Core-/Core-canditate-Genes)
153,9 kb (Extended panel: incl. additional genes)
153,9 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
DES | 1413 | NM_001927.4 | AD | |
FLNC | 8178 | NM_001458.5 | AD | |
MYH7 | 5808 | NM_000257.4 | AD | |
TNNI3 | 633 | NM_000363.5 | AD, AR | |
TNNT2 | 867 | NM_001001430.3 | AD | |
ABCC9 | 4650 | NM_005691.4 | AD | |
ACTC1 | 1134 | NM_005159.5 | AD | |
BAG3 | 1728 | NM_004281.4 | AD | |
CRYAB | 528 | NM_001885.3 | AD | |
FHL1 | 843 | NM_001449.5 | XL | |
GLA | 1290 | NM_000169.3 | XL | |
HAMP | 255 | NM_021175.4 | AR | |
HFE | 1047 | NM_000410.4 | AR | |
HJV | 1281 | NM_213653.4 | AR | |
KIF20A | 2691 | NM_005733.3 | AR | |
LDB3 | 852 | NM_001080116.1 | AD | |
LMNA | 1995 | NM_170707.4 | AD | |
MYBPC3 | 3825 | NM_000256.3 | AD, AR | |
MYH6 | 5820 | NM_002471.4 | AD | |
MYL2 | 501 | NM_000432.4 | AD | |
MYL3 | 588 | NM_000258.3 | AD, AR | |
MYPN | 3963 | NM_032578.4 | AD | |
TAFAZZIN | 879 | NM_000116.5 | XLR | |
TNNC1 | 486 | NM_003280.3 | AD | |
TPM1 | 855 | NM_001018005.2 | AD | |
TRIM63 | 1062 | NM_032588.4 | AR | |
TTN | 100272 | NM_001267550.2 | AD | |
TTR | 444 | NM_000371.4 | AR |
Informations about the disease
Synonyms
- Allelic: Alzheimer disease, susceptibility to (HFE)
- Allelic: Arterial calcification, generalized, of infancy, 2 (ABCC6)
- Allelic: Atrial fibrillation, familial, 12 (ABCC9)
- Allelic: Atrial septal defect 3 (MYH6)
- Allelic: Atrial septal defect 5 (ACTC1)
- Allelic: Cataract 16, multiple types (CRYAB)
- Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
- Allelic: Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
- Allelic: Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
- Allelic: Hutchinson-Gilford progeria (LMNA)
- Allelic: Hypertrichotic osteochondrodysplasia, Cantu syndrome (ABCC9)
- Allelic: Intellectual disability + myopathy syndrome (ABCC9)
- Allelic: Laing distal myopathy(MYH7)
- Allelic: Lipodystrophy, familial partial, type 2 (LMNA)
- Allelic: Mandibuloacral dysplasia (LMNA)
- Allelic: Microphthalmia, anophthalmia, systemic abnormalities, intellectual disability (BMP7)
- Allelic: Microvascular complications of diabetes 7 (HFE)
- Allelic: Muscular dystrophy, congenital (LMNA)
- Allelic: Muscular dystrophy, limb-girdle, AR 10 (TTN)
- Allelic: Myopathy, XL, with postural muscle atrophy (FHL1)
- Allelic: Myopathy, distal, 4 (FLNC)
- Allelic: Myopathy, myofibrillar, 1 (DES)
- Allelic: Myopathy, myofibrillar, 2 (CRYAB)
- Allelic: Myopathy, myofibrillar, 3 (MYOT)
- Allelic: Myopathy, myofibrillar, 4 (LDB3)
- Allelic: Myopathy, myofibrillar, 5 (FLNC)
- Allelic: Myopathy, myofibrillar, 6 (BAG3)
- Allelic: Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
- Allelic: Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related (CRYAB)
- Allelic: Myopathy, myosin storage, AD (MYH7)
- Allelic: Myopathy, myosin storage, AR (MYH7)
- Allelic: Myopathy, spheroid body (MYOT)
- Allelic: Nemaline myopathy 11, AR (MYPN)
- Allelic: Porphyria cutanea tarda, susceptibility to (HFE)
- Allelic: Porphyria variegata, susceptibility to (HFE)
- Allelic: Pseudoxanthoma elasticum, forme fruste (ABCC6)
- Allelic: Reducing body myopathy, XL 1a, severe, infantile or early childhood onset (FHL1)
- Allelic: Reducing body myopathy, XL 1b, with late childhood or adult onset (FHL1)
- Allelic: Restrictive dermopathy 2 (LMNA)
- Allelic: Scapuloperoneal myopathy, XLD (FHL1)
- Allelic: Scapuloperoneal syndrome, myopathic type (MYH7)
- Allelic: Scapuloperoneal syndrome, neurogenic, Kaeser type (DES)
- Allelic: Sick sinus syndrome 3 (MYH6)
- Allelic: Tibial muscular dystrophy, tardive (TTN)
- Allelic: Transferrin serum level QTL2 (HFE)
- Allelic: Uruguay faciocardiomusculoskeletal syndrome (FHL1)
- Barth syndrome (TAFAZZIN)
- Cardiomyopathy, dilated, 1A (LMNA)
- Cardiomyopathy, dilated, 1C, with/-out LVNC (LDB3)
- Cardiomyopathy, dilated, 1D (TNNT2)
- Cardiomyopathy, dilated, 1EE (MYH6)
- Cardiomyopathy, dilated, 1FF (TNNI3)
- Cardiomyopathy, dilated, 1G (TTN)
- Cardiomyopathy, dilated, 1HH (BAG3)
- Cardiomyopathy, dilated, 1I (DES)
- Cardiomyopathy, dilated, 1II (CRYAB)
- Cardiomyopathy, dilated, 1KK (MYPN)
- Cardiomyopathy, dilated, 1MM (MYBPC3)
- Cardiomyopathy, dilated, 1O (ABCC9)
- Cardiomyopathy, dilated, 1R (ACTC1)
- Cardiomyopathy, dilated, 1S (MYH7)
- Cardiomyopathy, dilated, 1Y (TPM1)
- Cardiomyopathy, dilated, 1Z (TNNC1)
- Cardiomyopathy, dilated, 2A (TNNI3)
- Cardiomyopathy, familial hypertrophic, 26 (FLNC)
- Cardiomyopathy, familial hypertrophic, 9 (TTN)
- Cardiomyopathy, familial restrictive, 1 (TNNI3)
- Cardiomyopathy, familial restrictive, 3 (TNNT2)
- Cardiomyopathy, familial restrictive, 4 (MYPN)
- Cardiomyopathy, familial restrictive, 5 (FLNC)
- Cardiomyopathy, familial restrictive, 6 (KIF20A)
- Cardiomyopathy, hypertrophic [MONDO:0005045, panelapp] (TRIM63)
- Cardiomyopathy, hypertrophic, 1 (MYH7)
- Cardiomyopathy, hypertrophic, 10 (MYL2)
- Cardiomyopathy, hypertrophic, 11 (ACTC1)
- Cardiomyopathy, hypertrophic, 13 (TNNC1)
- Cardiomyopathy, hypertrophic, 14 (MYH6)
- Cardiomyopathy, hypertrophic, 2 (TNNT2)
- Cardiomyopathy, hypertrophic, 22 (MYPN)
- Cardiomyopathy, hypertrophic, 24 (LDB3)
- Cardiomyopathy, hypertrophic, 3 (TPM1)
- Cardiomyopathy, hypertrophic, 4 (MYBPC3)
- Cardiomyopathy, hypertrophic, 7 (TNNI3)
- Cardiomyopathy, hypertrophic, 8 (MYL3)
- Cardiomyopathy, restrictive [MONDO:0005201, panelapp] (TRIM63)
- Congenital myopathy 5 with cardiomyopathy (TTN)
- Emery-Dreifuss muscular dystrophy 6, XL (FHL1)
- Heart-hand syndrome, Slovenian type (LMNA)
- Hemochromatosis (HFE)
- Hemochromatosis, type 3 (TFR2)
- Hemochromatosis, type 4 (SLC40A1)
- Left ventricular noncompaction 10 (MYBPC3)
- Left ventricular noncompaction 3 (LDB3)
- Left ventricular noncompaction 4 (ACTC1)
- Left ventricular noncompaction 5 (MYH7)
- Left ventricular noncompaction 6 (TNNT2)
- Left ventricular noncompaction 9 (TPM1)
- Malouf syndrome (LMNA)
- Muscular dystrophy, limb-girdle, AD 1 (DNAJB6)
- Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy (MYL2)
- Pseudoxanthoma elasticum (ABCC6)
Heredity, heredity patterns etc.
- AD
- AR
- XL
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined