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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)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
ADCY53786NM_183357.3AD, AR
CACNA1A6786NM_001127221.2AD
KCNA11488NM_000217.3AD, AR
KCNMA13537NM_002247.4AD, AR
PNKD429NM_015488.5AD
PRRT21023NM_145239.3AD
SCN8A5943NM_014191.4AD
SLC2A11479
  • Keine OMIM-Gs verknüpft
NM_006516.4AD, AR
ATP1A23063NM_000702.4AD
ATP1A33042NM_152296.5AD
CACNB41563NM_000726.5AD
CSNK1D1248NM_001893.6AD
DNMT14899NM_001130823.3AD
GLRA11350NM_000171.4AD, AR
KCNK181155NM_181840.1AD
KCNQ22619NM_172107.4AD
MOG744NM_206809.4AD
NKX2-11206NM_001079668.3AD
PDE10A2370NM_001130690.3AR
SCN1A6030NM_001165963.4AD
SLC1A31629NM_004172.5AD
SLC6A52394NM_004211.5AD, 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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