Klinische FragestellungMyoklonus-Dystonie, Differentialdiagnose

Zusammenfassung

Kurzinformation

MP9112_KI

MP9112

Anzahl Loci

Loci-Typ	Anzahl
Gen	16

Akkreditierte Untersuchung

Untersuchte Sequenzlänge

3,0 kb (Core-/Core-canditate-Gene)
44,8 kb (Erweitertes Panel: inkl. additional genes)

Analyse-Dauer

auf Anfrage

Untersuchungsmaterial

Diagnostische Hinweise

MP9112_DH

Name	Exon-Länge (bp)	OMIM-G	Referenz-Seq.	Erbgang
KCTD17	1645	616386	NM_024681.3	AD
SGCE	1314	604149	NM_003919.3	AD
ADCY5	3786	600293	NM_183357.3	AD
ATM	9171	607585	NM_000051.4	AR
ATN1	3573	607462	NM_001007026.2	AD
ATP7B	4398	606882	NM_000053.4	AR
ATXN3	1086	607047	NM_004993.6	AD
EPM2A	996	607566	NM_005670.4	AR
GCH1	753	600225	NM_000161.3	AD, AR
NHLRC1	1188	608072	NM_198586.3	AR
NKX2-1	1206	600635	NM_001079668.3	AR
PRKCG	2094	176980	NM_002739.5	AD
RELN	10383	600514	NM_005045.4	AR
TOR1A	999	605204	NM_000113.3	AD
TTPA	837	600415	NM_000370.3	AR
TUBB2B	1338	612850	NM_178012.5	AD

Klinischer Kommentar

illness_ClinicalComment_MP9112

Synonyme

Alias: DYT11
Alias: Dystonia 11
Alias: Myoclonus-dystonia syndrome
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)
Global developm. delay, ID, Autism, Behavior, Dystonia, Ataxia, Chorea, Myoclonus [panelapp] (CAMK4)
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.

OMIM-Ps

ICD10 Code

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