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
ID
NP6698
Anzahl Gene
1
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
3,0 kb (Core-/Core-canditate-Gene)
- (Erweitertes Panel: inkl. additional genes)
- (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 |
---|---|---|---|---|
AARS1 | 2927 | NM_001605.3 | 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.
- AD
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
G60.-
Bioinformatik und klinische Interpretation
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