Klinische FragestellungParoxysmale ZNS-Erkrankungen [prädominant Dyskinesie, prädominant episodische Ataxie]; DD
Zusammenfassung
Kurzinformation
Ein kuratiertes panel mit 1 Leitlinien-kuratierten Gen bzw. insgesamt 27 kuratierten Genen zur umfassenden Untersuchung der Verdachtsdiagnose Paroxysmale ZNS-Erkrankungen [prädominant Dyskinesie, prädominant episodische Ataxie]
ID
PP2299
Anzahl Gene
22
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
24,5 kb (Core-/Core-canditate-Gene)
57,8 kb (Erweitertes Panel: inkl. additional genes)
57,8 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 |
---|---|---|---|---|
ADCY5 | 3786 | NM_183357.3 | AD, AR | |
CACNA1A | 6786 | NM_001127221.2 | AD | |
KCNA1 | 1488 | NM_000217.3 | AD, AR | |
KCNMA1 | 3537 | NM_002247.4 | AD, AR | |
PNKD | 429 | NM_015488.5 | AD | |
PRRT2 | 1023 | NM_145239.3 | AD | |
SCN8A | 5943 | NM_014191.4 | AD | |
SLC2A1 | 1479 |
| NM_006516.4 | AD, AR |
ATP1A2 | 3063 | NM_000702.4 | AD | |
ATP1A3 | 3042 | NM_152296.5 | AD | |
CACNB4 | 1563 | NM_000726.5 | AD | |
CSNK1D | 1248 | NM_001893.6 | AD | |
DNMT1 | 4899 | NM_001130823.3 | AD | |
GLRA1 | 1350 | NM_000171.4 | AD, AR | |
KCNK18 | 1155 | NM_181840.1 | AD | |
KCNQ2 | 2619 | NM_172107.4 | AD | |
MOG | 744 | NM_206809.4 | AD | |
NKX2-1 | 1206 | NM_001079668.3 | AD | |
PDE10A | 2370 | NM_001130690.3 | AR | |
SCN1A | 6030 | NM_001165963.4 | AD | |
SLC1A3 | 1629 | NM_004172.5 | AD | |
SLC6A5 | 2394 | NM_004211.5 | AD, AR |
Infos zur Erkrankung
Klinischer Kommentar
Sehr heterogene Gruppe von Erkrankungen
Synonyme
- Allelic: Cognitive impairment with or without cerebellar ataxia (SCN8A)
- Allelic: Deafness, AD 65 (TBC1D24)
- Allelic: Deafness, AR 86 (TBC1D24)
- Allelic: Liang-Wang syndrome (KCNMA1)
- Allelic: Neuropathy, hereditary sensory, type IE (DNMT1)
- Allelic: Spinocerebellar ataxia 6 (CACNA1A)
- Allelic: Stomatin-deficient cryohydrocytosis with neurologic defects (SLC2A1)
- Allelic: Striatal degeneration, AD (PDE10A)
- Advanced sleep-phase syndrome, familial, 2 (CSNK1D)
- Alternating hemiplegia of childhood 1 (ATP1A2)
- Alternating hemiplegia of childhood 2 (ATP1A3)
- CAPOS [Cereb. ataxia, Areflexia, Pes cavus, Optic atrophy, Sensorin. hearing loss ] synd. (ATP1A3)
- Cerebellar ataxia, deafness, and narcolepsy, AD (DNMT1)
- Cerebellar atrophy, developmental delay, seizures (KCNMA1)
- Chorea, hereditary benign (NKX2-1)
- Choreoathetosis, hypothyroidism, and neonatal respiratory distress (NKX2-1)
- Convulsions, familial infantile, with paroxysmal choreoathetosis (PRRT2)
- DOORS syndrome (TBC1D24)
- Developmental + epileptic encephalopathy 16 (TBC1D24)
- Developmental + epileptic encephalopathy 64 (RHOBTB2)
- Developmental + epileptic encephalopathy 6B, non-Dravet (SCN1A)
- Dravet syndrome (SCN1A)
- Dyskinesia, familial, with facial myokymia (ADCY5)
- Dyskinesia, limb and orofacial, infantile-onset (PDE10A)
- Dystonia 9 (SLC2A1)
- Dystonia-12 (ATP1A3)
- Epilepsy, generalized, with febrile seizures plus, type2 (SCN1A)
- Epilepsy, idiopathic generalized, susceptibility to, 12 (SLC2A1)
- Epilepsy, idiopathic generalized, susceptibility to, 16 (KCNMA1)
- Epilepsy, idiopathic generalized, susceptibility to, 9 (CACNB4)
- Epilepsy, juvenile myoclonic, susceptibility to, 6 (CACNB4)
- Epilepsy, rolandic, with proxysmal exercise-induce dystonia + writer's cramp (TBC1D24)
- Epileptic encephalopathy, early infantile, 13 (SCN8A)
- Epileptic encephalopathy, early infantile, 42 (CACNA1A)
- Epileptic encephalopathy, early infantile, 6 [Dravet syndrome] (SCN1A)
- Epileptic encephalopathy, early infantile, 7 (KCNQ2)
- Episodic ataxia, type 2 (CACNA1A)
- Episodic ataxia, type 5 (CACNB4)
- Episodic ataxia, type 6 (SLC1A3)
- Episodic ataxia/myokymia syndrome (KCNA1)
- Episodic kinesigenic dyskinesia 1 (PRRT2)
- Febrile seizures, familial, 3A (SCN1A)
- GLUT1 deficiency syndrome 1, infantile onset (SLC2A1)
- GLUT1 deficiency syndrome 2, childhood onset (SLC2A1)
- Generalized epilepsy with febrile seizures plus, type 2 (SCN1A)
- Hyperekplexia 1 (GLRA1)
- Hyperekplexia 2 (GLRB)
- Hyperekplexia 3 (SLC6A5)
- Hyperekplexia 4 (ATAD1)
- Intellectual developmental disorder with paroxysmal dyskinesia or seizures (PDE2A)
- Migraine, familial basilar (ATP1A2)
- Migraine, familial hemiplegic, 1 (CACNA1A)
- Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia (CACNA1A)
- Migraine, familial hemiplegic, 2 (ATP1A2)
- Migraine, familial hemiplegic, 3 (SCN1A)
- Migraine, with/-out aura, susceptibility to, 13 (KCNK18)
- Myoclonic epilepsy, infantile, familial (TBC1D24)
- Myoclonus, familial, 2 (SCN8A)
- Myokymia (KCNQ2)
- Myokymia with periodic ataxia (KCNA1)
- Narcolepsy 7 (MOG)
- Neurodevelopmental disorder, hypotonia + autistic features +/- hyperkinetic movements (VAMP2)
- Paroxysmal exertion-induced dyskinesia with/without epilepsy and/or hemolytic anemia (SLC2A1)
- Paroxysmal nonkinesigenic dyskinesia 1 (PNKD)
- Paroxysmal nonkinesigenic dyskinesia, with/-out generalized epilepsy (KCNMA18)
- Seizures, benign familial infantile, 2 (PRRT2)
- Seizures, benign familial infantile, 5 (SCN8A)
- Seizures, benign neonatal, 1 (KCNQ2)
- Spinocerebellar ataxia 27 (FGF14)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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