English
ErkrankungLaing distale Myopathie; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Laing distale Myopathie mit 1 Leitlinien-kuratierten core-Gen, 14 weiteren Leitlinien-kuratierten sowie zusammen genommen 20 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
LP7117
Anzahl Gene
16
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
27,3 kb (Core-/Basis-Gene)
55,7 kb (Erweitertes Panel)
55,7 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Erbgang |
|---|---|---|---|
| ANO5 | 2742 | AD und/oder AR | |
| DYSF | 6243 | AR | |
| FLNC | 8178 | AD | |
| GNE | 2262 | AD und/oder AR | |
| LDB3 | 852 | AD | |
| MYH7 | 5808 | AD und/oder AR und/oder Dig | |
| TIA1 | 1161 | AD und/oder AR | |
| BAG3 | 1728 | AD | |
| CRYAB | 528 | AD | |
| DES | 1413 | AD und/oder AR | |
| DNM2 | 2613 | AD und/oder AR und/oder SMu | |
| KY | 2189 |
| AR |
| MTM1 | 1812 | XLR | |
| MYOT | 1497 | AD | |
| PYROXD1 | 1553 |
| AR |
| RYR1 | 15117 | AD und/oder AR |
Infos zur Erkrankung
Synonyme
- Alias: Myopathy, distal, 1
- Alias: Myopathy, distal, early-onset, AD
- Alias: Myopathy, late distal hereditary
- Allelic: Amyotrophic lateral sclerosis 21 (MATR3)
- Allelic: Arthrogryposis multiplex congenita 6 (NEB)
- Allelic: Cardiomyopathy, dilated, 1G (TTN)
- Allelic: Cardiomyopathy, dilated, 1S (MYH7)
- Allelic: Cardiomyopathy, familial hypertrophic, 9 (TTN)
- Allelic: Cardiomyopathy, hypertrophic, 1 (MYH7)
- Allelic: Left ventricular noncompaction 5 (MYH7)
- Allelic: Myopathy, myosin storage, AD (MYH7)
- Allelic: Scapuloperoneal syndrome, myopathic type (MYH7)
- Central core disease (RYR1)
- Centronuclear myopathy 1 (DNM2)
- Distal Myopathy [panelapp green] (MATR3)
- Distal myopathy [panelapp] (KLHL9)
- Laing distal myopathy (MYH7)
- Minicore myopathy with external ophthalmoplegia (RYR1)
- Miyoshi muscular dystrophy 1 (DYSF)
- Miyoshi muscular dystrophy 3 (ANO5)
- Muscular dystrophy, limb-girdle, AR 10 (TTN)
- Myopathy, distal, 4 (FLNC)
- Myopathy, distal, with anterior tibial onset (DYSF)
- Myopathy, myofibrillar, 1 (DES)
- Myopathy, myofibrillar, 2 (CRYAB)
- Myopathy, myofibrillar, 3 (MYOT)
- Myopathy, myofibrillar, 4 (LDB3)
- Myopathy, myofibrillar, 5 (FLNC)
- Myopathy, myofibrillar, 6 (BAG3)
- Myopathy, myofibrillar, 7 (KY)
- Myopathy, myofibrillar, 8 (PYROXD1)
- Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
- Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related (CRYAB)
- Myopathy, spheroid body (MYOT)
- Myotubular myopathy, XL (MTM1)
- Nemaline myopathy 2, AR (NEB)
- Neuromuscular disease, congenital, with uniform type 1 fiber (RYR1)
- Nonaka myopathy (GNE)
- Salih myopathy (TTN)
- Tibial muscular dystrophy, tardive (TTN)
- Welander distal myopathy (TIA1)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AD und/oder AR und/oder Dig
- AD und/oder AR und/oder SMu
- AR
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
G72.8-
Bioinformatik und klinische Interpretation
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