English
Klinische FragestellungKontraktur-Syndrom, lethales kongenitales; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Lethales kongenitales Kontraktur-Syndrom mit 12 "core candidate"-Genen bzw. 21 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
LP0450
Anzahl Gene
20
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
25,7 kb (Core-/Core-canditate-Gene)
69,4 kb (Erweitertes Panel: inkl. additional genes)
69,4 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| CHRNA1 | 1374 | NM_000079.4 | AD, AR | |
| CHRNB1 | 1506 | NM_000747.3 | AD, AR | |
| CHRND | 1554 | NM_000751.3 | AD, AR | |
| CHRNG | 1554 | NM_005199.5 | AR | |
| DNM2 | 2613 | NM_001005360.3 | AR | |
| DOK7 | 1515 | NM_173660.5 | AR | |
| ERBB3 | 4029 | NM_001982.4 | AR | |
| GLE1 | 2097 | NM_001003722.2 | AR | |
| MUSK | 2610 | NM_005592.4 | AR | |
| MYBPC1 | 3516 | NM_002465.4 | AD, AR | |
| PIP5K1C | 2007 | NM_012398.3 | AR | |
| RAPSN | 1239 | NM_005055.5 | AR | |
| ADCY6 | 3507 | NM_015270.5 | AR | |
| ADGRG6 | 3858 | NM_001032394.3 | AR | |
| CNTNAP1 | 4155 | NM_003632.3 | AR | |
| GLDN | 1670 | NM_181789.4 | AR | |
| LGI4 | 1614 | NM_139284.3 | AR | |
| SYNE1 | 26250 | NM_033071.4 | AR | |
| ZBTB42 | 1269 | NM_001137601.3 | AR | |
| ZMPSTE24 | 1428 | NM_005857.5 | AR |
Infos zur Erkrankung
Klinischer Kommentar
Gruppe von Erkrankungen
Synonyme
- Alias: Arthrogryposis multiplex congenita, lethal
- Alias: Lethal congenital contracture syndrome
- Allelic: Centronuclear myopathy 1 (DNM2)
- Allelic: Charcot-Marie-Tooth disease, axonal type 2M (DNM2)
- Allelic: Charcot-Marie-Tooth disease, dominant intermediate B (DNM2)
- Allelic: Congenital arthrogryposis with anterior horn cell disease (GLE1)
- Allelic: Emery-Dreifuss muscular dystrophy 4, AD (SYNE1)
- Allelic: Erythroleukemia, familial, susceptibility to (ERBB3)
- Allelic: Hypomyelinating neuropathy, congenital, 3 (CNTNAP1)
- Allelic: Mandibuloacral dysplasia with type B lipodystrophy (ZMPSTE24)
- Allelic: Myasthenic syndrome, congenital, 10 (DOK7)
- Allelic: Myasthenic syndrome, congenital, 11, assoc. with acetylcholine receptor deficiency (RAPSN)
- Allelic: Myasthenic syndrome, congenital, 1A, slow-channel (CHRNA1)
- Allelic: Myasthenic syndrome, congenital, 1B, fast-channel (CHRNA1)
- Allelic: Myasthenic syndrome, congenital, 2C, assoc. with acetylcholine receptor deficiency (CHRNB1)
- Allelic: Myasthenic syndrome, congenital, 3A, slow-channel (CHRND)
- Allelic: Myasthenic syndrome, congenital, 3B, fast-channel (CHRND)
- Allelic: Myasthenic syndrome, congenital, 3C, assoc. with acetylcholine receptor deficiency (CHRND)
- Allelic: Myasthenic syndrome, congenital, 9, assoc. with acetylcholine receptor deficiency (MUSK)
- Allelic: Myopathy, congenital, with tremor (MYBPC1)
- Allelic: Spinocerebellar ataxia, AR 8 (SYNE1)
- Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect (LGI4)
- Arthrogryposis multiplex congenita 3, myogenic type (SYNE1)
- Arthrogryposis, Perthes disease + upward gaze palsy (NEK9)
- Arthrogryposis, distal, type 1B (MYBPC1)
- Escobar syndrome (CHRNG)
- Fetal akinesia deformation sequence 1 (MUSK)
- Fetal akinesia deformation sequence 2 (RAPSN)
- Fetal akinesia deformation sequence 3 (DOK7)
- Lethal congenital contracture syndrome 1 (GLE1)
- Lethal congenital contracture syndrome 10 (NEK9)
- Lethal congenital contracture syndrome 11 (GLDN)
- Lethal congenital contracture syndrome 2 (ERBB3)
- Lethal congenital contracture syndrome 3 (PIP5K1C)
- Lethal congenital contracture syndrome 4 (MYBPC1)
- Lethal congenital contracture syndrome 5 (DNM2)
- Lethal congenital contracture syndrome 6 (ZBTB42)
- Lethal congenital contracture syndrome 7 (CNTNAP1)
- Lethal congenital contracture syndrome 8 (ADCY6)
- Lethal congenital contracture syndrome 9 (ADGRG9)
- Multiple pterygium syndrome, lethal type (CHRNA1, CHRND)
- Multiple pterygium syndrome, lethal type (CHRNG)
- Myasthenic syndrome, congenital, 2A, slow-channel (CHRNB1)
- Restrictive dermopathy, lethal (ZMPSTE24)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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