ErkrankungKardiomyopathie, restriktive; Differentialdiagnose
Zusammenfassung
Kurzinformation
RP0922_KI
ID
RP0922
Anzahl Gene
25
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
13,7 kb (Core-/Basis-Gene)
56,5 kb (Erweitertes Panel)
56,5 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
RP0922_DH
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
FLNC | 8178 | AD | |
MYPN | 3963 | AD | |
TNNI3 | 633 | AD und/oder AR | |
TNNT2 | 867 | AD | |
ABCC6 | 4512 | AD und/oder AR und/oder Dig und/oder Mult | |
ABCC9 | 4650 | AD und/oder Dig | |
ACTC1 | 1134 | AD | |
BAG3 | 1728 | AD | |
BMP5 | 1365 | n.k. | |
BMP7 | 1296 | AD | |
CRYAB | 528 | AD | |
DES | 1413 | AD und/oder AR | |
DNAJB6 | 981 | AD | |
FHL1 | 843 | XL | |
KIF20A | 2691 | AR | |
LDB3 | 852 | AD | |
MYBPC3 | 3825 | AD und/oder Dig | |
MYH6 | 5820 | AD und/oder Sus | |
MYH7 | 5808 | AD und/oder AR und/oder Dig | |
MYL3 | 588 | AD und/oder AR | |
MYOT | 1497 | AD | |
TAFAZZIN | 879 | XLR | |
TNNC1 | 486 | AD | |
TPM1 | 855 | AD | |
TRIM63 | 1062 | AD |
Infos zur Erkrankung
Synonyme
- 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: Hypertrichotic osteochondrodysplasia, Cantu syndrome (ABCC9)
- Allelic: Intellectual disability + myopathy syndrome (ABCC9)
- Allelic: Laing distal myopathy(MYH7)
- Allelic: Microphthalmia, anophthalmia, systemic abnormalities, intellectual disability (BMP7)
- 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, 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: 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: Scapuloperoneal myopathy, XLD (FHL1)
- Allelic: Scapuloperoneal syndrome, myopathic type (MYH7)
- Allelic: Scapuloperoneal syndrome, neurogenic, Kaeser type (DES)
- Allelic: Sick sinus syndrome 3 (MYH6)
- Allelic: Uruguay faciocardiomusculoskeletal syndrome (FHL1)
- Barth syndrome (TAFAZZIN)
- Cardiomyopathy, dilated, 1C, with/-out LVNC (LDB3)
- Cardiomyopathy, dilated, 1D (TNNT2)
- Cardiomyopathy, dilated, 1EE (MYH6)
- Cardiomyopathy, dilated, 1FF (TNNI3)
- 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 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, 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)
- Emery-Dreifuss muscular dystrophy 6, XL (FHL1)
- 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)
- Muscular dystrophy, limb-girdle, AD 1 (DNAJB6)
- Pseudoxanthoma elasticum (ABCC6)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AD und/oder AR und/oder Dig
- AD und/oder AR und/oder Dig und/oder Mult
- AD und/oder Dig
- AD und/oder Sus
- AR
- XL
- XLR
- n.k.
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
I42.5
Bioinformatik und klinische Interpretation
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