Klinische FragestellungNeuropathie, hereditäre motorische, Kinder/Jugendliche; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Neuropathie, hereditäre motorische, Kinder/Jugendliche mit 24 Leitlinien-kuratierten Genen gemäß klinischer Verdachtsdiagnose

NP6698

Anzahl Gene

22 Akkreditierte Untersuchung

Untersuchte Sequenzlänge

60,0 kb (Core-/Core-canditate-Gene)
- (Erweitertes Panel: inkl. additional genes)

Analyse-Dauer

auf Anfrage

Untersuchungsmaterial

EDTA-Blut (3-5 ml)

Diagnostische Hinweise

NGS +

Genpanel

Ausgewählte Gene

Name	Exon-Länge (bp)	OMIM-G	Referenz-Seq.	Erbgang
AARS1	2927	601065	NM_001605.3	AD
ATP7A	4503	300011	NM_000052.7	XLR
BICD2	2568	609797	NM_001003800.2	XLR
BSCL2	1197	606158	NM_032667.6	AD
CHCHD10	429	615903	NM_213720.3	AD
DCTN1	3837	601143	NM_004082.5	AD
DYNC1H1	13941	600112	NM_001376.5	AD
FBXO38	2832	608533	NM_001271723.2	AD
GARS1	2220	600287	NM_002047.4	AD
HARS1	1530	142810	NM_002109.6	AD
HINT1	381	601314	NM_005340.7	AR
HSPB1	618	602195	NM_001540.5	AD
HSPB8	591	608014	NM_014365.3	AD
IGHMBP2	2982	600502	NM_002180.3	AR
PLEKHG5	3189	611101	NM_020631.6	AR
REEP1	606	609139	NM_022912.3	AR
SETX	8034	608465	NM_015046.7	AD
SIGMAR1	672	601978	NM_005866.4	AR
SLC5A7	1743	608761	NM_021815.5	AD
SORD	1074	182500	NM_003104.6	AR
TRPV4	2616	605427	NM_021625.5	AD
WARS1	1451	191050		AD

Infos zur Erkrankung

Synonyme

Alias: Distal hereditary motor neuropathy, DHMN
Allelic: Amyotrophic lateral sclerosis 16, juvenile (SIGMAR1)
Allelic: Amyotrophic lateral sclerosis 4, juvenile (SETX)
Allelic: Amyotrophic lateral sclerosis, susceptibility to (DCNT1)
Allelic: Deafness, AD 4A (MYH14)
Allelic: Myasthenic syndrome, congenital, 20, presynaptic (SLC5A7)
Allelic: Perry syndrome [parkinsonism, depression, respiratory hypoventilation] (DCNT1)
Allelic: Spastic paraplegia 31, AD (REEP1)
Allelic: Usher syndrome type 3B (HARS1)
Charcot-Marie-Tooth disease, RI C (PLEKHG5)
Charcot-Marie-Tooth disease, axonal, type 2F (HSPB1)
Charcot-Marie-Tooth disease, axonal, type 2L (HSPB8)
Charcot-Marie-Tooth disease, axonal, type 2N (AARS1)
Charcot-Marie-Tooth disease, axonal, type 2O (DYNC1H1)
Charcot-Marie-Tooth disease, axonal, type 2S (IGHMBP2)
Charcot-Marie-Tooth disease, axonal, type 2W (HARS1)
Charcot-Marie-Tooth disease, type 2D (GARS1)
Developmental + epileptic encephalopathy 29 (AARS1)
Hereditary motor and sensory neuropathy, type IIc (TRPV4)
Neuromyotonia + axonal neuropathy, AR (HINT1)
Neuronopathy, distal hereditary motor, type IIA (HSPB8)
Neuronopathy, distal hereditary motor, type IIB (HSPB1)
Neuronopathy, distal hereditary motor, type IIC (HSPB3)
Neuronopathy, distal hereditary motor, type IID (FBXO38)
Neuronopathy, distal hereditary motor, type IX (WARS1)
Neuronopathy, distal hereditary motor, type VA (GARS1)
Neuronopathy, distal hereditary motor, type VB (REEP1)
Neuronopathy, distal hereditary motor, type VI (IGHMBP2)
Neuronopathy, distal hereditary motor, type VIIA (SLC5A7)
Neuronopathy, distal hereditary motor, type VIIB (DCNT1)
Neuronopathy, distal hereditary motor, type VIII (TRPV4)
Neuropathy, distal hereditary motor, type VA (BSCL2)
Peripheral neuropathy, myopathy, hoarseness, hearing loss (MYH14)
Spinal muscular atrophy, Jokela type (CHCHD10)
Spinal muscular atrophy, distal, AR, 2 (SIGMAR1)
Spinal muscular atrophy, distal, AR, 4 (PLEKHG5)
Spinal muscular atrophy, distal, XL 3 (ATP7A)
Spinal muscular atrophy, lower extremity-predominant 1, AD (DYNC1H1)
Spinal muscular atrophy, lower extremity-predominant, 2A + 2B, AD (BICD2)
Spinocerebellar ataxia, AR, with axonal neuropathy 2 (SETX)

Erbgänge, Vererbungsmuster etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatik und klinische Interpretation

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