Klinische FragestellungHyperekplexie, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Hyperekplexie mit 1 "core"-Gen, 2 weiteren "core candidate"-Genen bzw. insgesamt 20 kuratierten Genen gemäß klinischer Verdachtsdiagnose

HP7685

Anzahl Gene

6 Akkreditierte Untersuchung

Untersuchte Sequenzlänge

5,3 kb (Core-/Core-canditate-Gene)
10,3 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
GLRA1	1350	138491	NM_000171.4	AD, AR
GLRB	1494	138492	NM_000824.5	AR
SLC6A5	2394	604159	NM_004211.5	AD, AR
ARHGEF9	1551	300429	NM_015185.3	XL
ATAD1	1200	614452	NM_032810.4	AR
GPHN	2310	603930	NM_020806.5	AR, AD

Infos zur Erkrankung

Klinischer Kommentar

Neurologische Störung, die durch übermäßige Schreckreaktionen gekennzeichnet ist

Synonyme

Alias: Congenital stiff man syndrome
Alias: Hyperekplexia-epilepsy syndrome
Alias: Kok disease
Alias: Startle disease/reaction
Alias: Startle reaction exaggerated
Alias: Stiff baby/man/person syndrome
Allelic: Cerebral amyloid angiopathy, PRNP-related (PRNP)
Allelic: Exudative vitreoretinopathy 7 (CTNNB1)
Allelic: Kuru, susceptibility to (PRNP)
Allelic: Neutropenia, severe congenital, 9, AD (CLPB)
3-methylglutaconic aciduria, type VIIA, AD (CLPB)
3-methylglutaconic aciduria, type VIIB, AR (CLPB)
Asparagine synthetase deficiency (ASNS)
Coffin-Lowry syndrome XLD (RPS6KA3)
Cognitive impairment with/-out cerebellar ataxia (SCN8A)
Cold-induced sweating syndrome 1 (CRLF1)
Convulsions, familial infantile, with paroxysmal choreoathetosis (PRRT2)
Creutzfeldt-Jakob disease (PRNP)
Developmental + epileptic encephalopathy 13 (SCN8A)
Developmental + epileptic encephalopathy 42 (CACNA1A)
Developmental + epileptic encephalopathy 68 (TRAK1)
Epileptic encephalopathy, early infantile, 8 (ARHGEF9)
Episodic ataxia, type 2 (CACNA1A)
Episodic kinesigenic dyskinesia 1 (PRRT2)
GM2-gangliosidosis, several forms (HEXA)
Gerstmann-Straussler disease (PRNP)
Glycine encephalopathy with normal serum glycine (SLC6A9)
Hex A pseudodeficiency (HEXA)
Huntington disease-like 1 (PRNP)
Hyperekplexia 1 (GLRA1)
Hyperekplexia 2 (GLRB)
Hyperekplexia 3 (SLC6A5)
Hyperekplexia 4 (ATAD1)
Insomnia, fatal familial (PRNP)
Intellectual developmental disorder, XL 19 (RPS6KA3)
Migraine, familial hemiplegic, 1 (CACNA1A)
Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia (CACNA1A)
Molybdenum cofactor deficiency C (GPHN)
Myoclonus, familial, 2 (SCN8A)
Neurodevelopmental disorder with spastic diplegia + visual defects (CTNNB1)
Pontocerebellar hypoplasia type 2A (TSEN54)
Pontocerebellar hypoplasia type 4 (TSEN54)
Pontocerebellar hypoplasia type 5 (TSEN54)
Seizures, benign familial infantile, 2 (PRRT2)
Seizures, benign familial infantile, 5 (SCN8A)
Spinocerebellar ataxia 6 (CACNA1A)
Spongiform encephalopathy with neuropsychiatric features (PRNP)
Sulfite oxidase deficiency (SUOX)
Tay-Sachs disease (HEXA)

Erbgänge, Vererbungsmuster etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

R29.2

Bioinformatik und klinische Interpretation

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