English
ErkrankungMyoklonus-Dystonie, Differentialdiagnose
Zusammenfassung
Kurzinformation
MP9112_KI
ID
MP9112
Anzahl Gene
17
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
3,0 kb (Core-/Basis-Gene)
45,1 kb (Erweitertes Panel)
45,1 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
MP9112_DH
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Erbgang |
|---|---|---|---|
| KCTD17 | 1645 | AD | |
| SGCE | 1314 | AD | |
| ADCY5 | 3786 | AD und/oder AR | |
| ATM | 9171 | AD und/oder AR und/oder SMu und/oder Sus | |
| ATN1 | 3573 | AD | |
| ATP7B | 4398 | AR | |
| ATXN3 | 1086 | AD und/oder Ass | |
| CSTB | 297 | AR | |
| EPM2A | 996 | AR | |
| GCH1 | 753 | AD und/oder AR | |
| NHLRC1 | 1188 | AR | |
| NKX2-1 | 1206 | AD | |
| PRKCG | 2094 | AD | |
| RELN | 10383 | AD und/oder AR | |
| TOR1A | 999 | AD | |
| TTPA | 837 | AR | |
| TUBB2B | 1338 | AD |
Infos zur Erkrankung
Synonyme
- Allelic: Arthrogryposis multiplex congenita 5 (TOR1A)
- Allelic: Breast cancer, susceptibility to (ATM)
- Allelic: Choreoathetosis, hypothyroidism + neonatal respiratory distress (NKX2-1)
- Allelic: Congenital hypotonia, epilepsy, developmental delay + digital anomalies (ATN1)
- Allelic: Hyperphenylalaninemia, BH4-deficient, B (GCH1)
- Allelic: Thyroid cancer, nonmedullary, 1 (NKX2-1)
- Ataxia with isolated vitamin E deficiency (TTPA)
- Ataxia-telangiectasia (ATM)
- Chorea, hereditary benign (NKX2-1)
- Cortical dysplasia, complex, with other brain malformations 7 (TUBB2B)
- Dentatorubral-pallidoluysian atrophy (ATN1)
- Dyskinesia with orofacial involvement, AD (ADCY5)
- Dyskinesia with orofacial involvement, AR (ADCY5)
- Dystonia 26, myoclonic (KCTD17)
- Dystonia, DOPA-responsive (GCH1)
- Dystonia-1, modifier of (TOR1A)
- Dystonia-1, torsion (TOR1A)
- Dystonia-11, myoclonic (SGCE)
- Epilepsy, familial temporal lobe, 7 (RELN)
- Epilepsy, progressive myoclonic 1A, Unverricht + Lundborg (CSTB)
- Epilepsy, progressive myoclonic 2A, Lafora (EPM2A)
- Epilepsy, progressive myoclonic 2B, Lafora (NHLRC1)
- Intellectual developmental disorder, AD 42 (GNB1)
- Lissencephaly 2, Norman-Roberts type (RELN)
- Machado-Joseph disease (ATXN3)
- Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (ADCY5)
- Spinocerebellar ataxia 14 (PRKCG)
- Wilson disease (ATP7B)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AD und/oder AR und/oder SMu und/oder Sus
- AD und/oder Ass
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
G25.-
Bioinformatik und klinische Interpretation
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