Klinische FragestellungKontraktur-Syndrom, lethales kongenitales; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Lethales kongenitales Kontraktur-Syndrom mit 12 bzw. 21 kuratierten Genen gemäß klinischer Verdachtsdiagnose

LP0450

Anzahl Gene

20 Akkreditierte Untersuchung

Untersuchte Sequenzlänge

25,7 kb (Core-/Core-canditate-Gene)
69,4 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
CHRNA1	1374	100690	NM_000079.4	AD, AR
CHRNB1	1506	100710	NM_000747.3	AD, AR
CHRND	1554	100720	NM_000751.3	AD, AR
CHRNG	1554	100730	NM_005199.5	AR
DNM2	2613	602378	NM_001005360.3	AR
DOK7	1515	610285	NM_173660.5	AR
ERBB3	4029	190151	NM_001982.4	AR
GLE1	2097	603371	NM_001003722.2	AR
MUSK	2610	601296	NM_005592.4	AR
MYBPC1	3516	160794	NM_002465.4	AD, AR
PIP5K1C	2007	606102	NM_012398.3	AR
RAPSN	1239	601592	NM_005055.5	AR
ADCY6	3507	600294	NM_015270.5	AR
ADGRG6	3858	612243	NM_001032394.3	AR
CNTNAP1	4155	602346	NM_003632.3	AR
GLDN	1670	608603	NM_181789.4	AR
LGI4	1614	608303	NM_139284.3	AR
SYNE1	26250	608441	NM_033071.4	AR
ZBTB42	1269	613915	NM_001137601.3	AR
ZMPSTE24	1428	606480	NM_005857.5	AR

Infos zur Erkrankung

Klinischer Kommentar

Gruppe von Erkrankungen

Synonyme

Alias: Arthrogryposis multiplex congenita, lethal
Alias: Lethal congenital contracture syndrome
Allelic: Centronuclear myopathy 1 (DNM2)
Allelic: Charcot-Marie-Tooth disease, axonal type 2M (DNM2)
Allelic: Charcot-Marie-Tooth disease, dominant intermediate B (DNM2)
Allelic: Congenital arthrogryposis with anterior horn cell disease (GLE1)
Allelic: Emery-Dreifuss muscular dystrophy 4, AD (SYNE1)
Allelic: Erythroleukemia, familial, susceptibility to (ERBB3)
Allelic: Hypomyelinating neuropathy, congenital, 3 (CNTNAP1)
Allelic: Mandibuloacral dysplasia with type B lipodystrophy (ZMPSTE24)
Allelic: Myasthenic syndrome, congenital, 10 (DOK7)
Allelic: Myasthenic syndrome, congenital, 11, assoc. with acetylcholine receptor deficiency (RAPSN)
Allelic: Myasthenic syndrome, congenital, 1A, slow-channel (CHRNA1)
Allelic: Myasthenic syndrome, congenital, 1B, fast-channel (CHRNA1)
Allelic: Myasthenic syndrome, congenital, 2C, assoc. with acetylcholine receptor deficiency (CHRNB1)
Allelic: Myasthenic syndrome, congenital, 3A, slow-channel (CHRND)
Allelic: Myasthenic syndrome, congenital, 3B, fast-channel (CHRND)
Allelic: Myasthenic syndrome, congenital, 3C, assoc. with acetylcholine receptor deficiency (CHRND)
Allelic: Myasthenic syndrome, congenital, 9, assoc. with acetylcholine receptor deficiency (MUSK)
Allelic: Myopathy, congenital, with tremor (MYBPC1)
Allelic: Spinocerebellar ataxia, AR 8 (SYNE1)
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect (LGI4)
Arthrogryposis multiplex congenita 3, myogenic type (SYNE1)
Arthrogryposis, Perthes disease + upward gaze palsy (NEK9)
Arthrogryposis, distal, type 1B (MYBPC1)
Escobar syndrome (CHRNG)
Fetal akinesia deformation sequence 1 (MUSK)
Fetal akinesia deformation sequence 2 (RAPSN)
Fetal akinesia deformation sequence 3 (DOK7)
Lethal congenital contracture syndrome 1 (GLE1)
Lethal congenital contracture syndrome 10 (NEK9)
Lethal congenital contracture syndrome 11 (GLDN)
Lethal congenital contracture syndrome 2 (ERBB3)
Lethal congenital contracture syndrome 3 (PIP5K1C)
Lethal congenital contracture syndrome 4 (MYBPC1)
Lethal congenital contracture syndrome 5 (DNM2)
Lethal congenital contracture syndrome 6 (ZBTB42)
Lethal congenital contracture syndrome 7 (CNTNAP1)
Lethal congenital contracture syndrome 8 (ADCY6)
Lethal congenital contracture syndrome 9 (ADGRG9)
Multiple pterygium syndrome, lethal type (CHRNA1, CHRND)
Multiple pterygium syndrome, lethal type (CHRNG)
Myasthenic syndrome, congenital, 2A, slow-channel (CHRNB1)
Restrictive dermopathy, lethal (ZMPSTE24)

Erbgänge, Vererbungsmuster etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Q87.-

Bioinformatik und klinische Interpretation

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