English
Klinische FragestellungLaing 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 Loci
| Locus-Typ | Anzahl |
|---|---|
| Gen | 19 |
Untersuchte Sequenzlänge
29,8 kb (Core-/Core-canditate-Gene)
184,2 kb (Erweitertes Panel: inkl. additional genes)
184,2 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Loci
Gen
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| ANO5 | 2742 | NM_213599.3 | AR | |
| DYSF | 6243 | NM_003494.4 | AR | |
| FLNC | 8178 | NM_001458.5 | AD | |
| GNE | 2262 | NM_001128227.3 | AR | |
| LDB3 | 852 | NM_001080116.1 | AD | |
| MATR3 | 2544 | NM_199189.3 | AR | |
| MYH7 | 5808 | NM_000257.4 | AD | |
| TIA1 | 1161 | NM_022173.4 | AD | |
| BAG3 | 1728 | NM_004281.4 | AD | |
| CRYAB | 528 | NM_001885.3 | AD, AR | |
| DES | 1413 | NM_001927.4 | AD, AR | |
| DNM2 | 2613 | NM_001005360.3 | AD | |
| KY | 2189 | NM_178554.6 | AR | |
| MTM1 | 1812 | NM_000252.3 | XLR | |
| MYOT | 1497 | NM_006790.3 | AD | |
| NEB | 25683 | NM_001271208.2 | AR | |
| PYROXD1 | 1553 | NM_024854.5 | AR | |
| RYR1 | 15117 | NM_000540.3 | AD | |
| TTN | 100272 | NM_001267550.2 | 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
- AR
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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