Klinische FragestellungNeuropathie, CMT1/-4 / HMSNI/-IV, demyelinisierend, AD/AR; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Neuropathie, CMT1/-4 / HMSNI/-IIV, demyelinisierend, AD/AR, mit 5 "core-"Genen, 12 weiteren "core candidate"-Genen und alles in allem 25 Leitlinien-kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
NP6734
Anzahl Gene
19
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
39,8 kb (Core-/Core-canditate-Gene)
41,6 kb (Erweitertes Panel: inkl. additional genes)
41,6 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 |
---|---|---|---|---|
DNM2 | 2613 | NM_001005360.3 | AD | |
EGR2 | 1431 | NM_000399.5 | AD | |
FGD4 | 2301 | NM_139241.3 | AR | |
FIG4 | 2724 | NM_014845.6 | AD, AR | |
GDAP1 | 1077 | NM_018972.4 | AD, AR | |
HK1 | 2754 | NM_000188.3 | AR | |
LITAF | 486 | NM_004862.4 | AD | |
MPZ | 747 | NM_000530.8 | AD | |
MTMR2 | 1932 | NM_016156.6 | AR | |
NDRG1 | 1185 | NM_006096.4 | AR | |
NEFL | 1633 | NM_006158.5 | AD, AR | |
PMP22 | 483 | NM_000304.4 | AD | |
PRX | 4386 | NM_181882.3 | AR | |
SBF1 | 5682 | NM_002972.4 | AR | |
SBF2 | 5550 | NM_030962.4 | AR | |
SH3TC2 | 3867 | NM_024577.4 | AR, AD | |
SURF1 | 903 | NM_003172.4 | AR | |
FBLN5 | 1347 | NM_006329.4 | AD | |
PMP2 | 403 | NM_002677.5 | AD |
Infos zur Erkrankung
Klinischer Kommentar
Gruppe von Erkrankungen
Synonyme
- Alias: CMT1/-4
- Alias: HMSNI/-IV
- Alias: Polyneuropathie
- Alias: Polyneuropathy
- Allelic: Amyotrophic lateral sclerosis 11 (FIG4)
- Allelic: Centronuclear myopathy 1 (DNM2)
- Allelic: Charcot-Marie-Tooth disease, type 2E (NEFL)
- Allelic: Charcot-Marie-Tooth disease, type 2I (MPZ)
- Allelic: Charcot-Marie-Tooth disease, type 2J (MPZ)
- Allelic: Cutis laxa, AD 2 (FBLN5)
- Allelic: Cutis laxa, AR, type IA (FBLN5)
- Allelic: Deafness, AR 89 (KARS1)
- Allelic: Glomerulosclerosis, focal segmental, 5 (INF2)
- Allelic: Lethal congenital contracture syndrome 5 (DNM2)
- Allelic: Lethal congenital contracture syndrome 7 (CNTNAP1)
- Allelic: Leukoencephalopathy, progressive, infantile-onset, with/-out deafness (KARS1)
- Allelic: Macular degeneration, age-related, 3 (FBLN5)
- Allelic: Mitochondrial complex IV deficiency, nuclear type 1 (SURF1)
- Allelic: Neurodevelopmental disorder with visual defects + brain anomalies (HK1)
- Allelic: Polymicrogyria, bilateral temporooccipital (FIG4)
- Allelic: Retinitis pigmentosa 79 (HK1)
- Allelic: Roussy-Levy syndrome (MPZ)
- Allelic: Roussy-Levy syndrome (PMP22)
- Allelic: Spinal muscular atrophy, distal, autosomal recessive, 4 (PLEKHG5)
- Allelic: Yunis-Varon syndrome (FIG4)
- Charcot-Marie-Tooth disease, DI, B (DNM2)
- Charcot-Marie-Tooth disease, DI, C (YARS1)
- Charcot-Marie-Tooth disease, DI, D (MPZ)
- Charcot-Marie-Tooth disease, DI, E (INF2)
- Charcot-Marie-Tooth disease, DI, F (GNB4)
- Charcot-Marie-Tooth disease, DI, G (NEFL)
- Charcot-Marie-Tooth disease, RI, B (KARS1)
- Charcot-Marie-Tooth disease, RI, C (PLEKHG5)
- Charcot-Marie-Tooth disease, RI, D (COX6A1)
- Charcot-Marie-Tooth disease, XLI [OMIM: CMTX1] (DRP2)
- Charcot-Marie-Tooth disease, axonal type 2M (DNM2)
- Charcot-Marie-Tooth disease, demyelinating, type 1G (PMP2)
- Charcot-Marie-Tooth disease, demyelinating, type 1H (FBLN5)
- Charcot-Marie-Tooth disease, type 1A (PMP22)
- Charcot-Marie-Tooth disease, type 1B (MPZ)
- Charcot-Marie-Tooth disease, type 1C (LITAF)
- Charcot-Marie-Tooth disease, type 1D (EGR2)
- Charcot-Marie-Tooth disease, type 1E (PMP22)
- Charcot-Marie-Tooth disease, type 1F (NEFL)
- Charcot-Marie-Tooth disease, type 4A (GDAP1)
- Charcot-Marie-Tooth disease, type 4B1 (MTMR1)
- Charcot-Marie-Tooth disease, type 4B2 (SBF2)
- Charcot-Marie-Tooth disease, type 4B3 (SBF1)
- Charcot-Marie-Tooth disease, type 4C (SBF2)
- Charcot-Marie-Tooth disease, type 4D ["Gypsy"] (NDRG1)
- Charcot-Marie-Tooth disease, type 4E (EGR2, MPZ)
- Charcot-Marie-Tooth disease, type 4F (PRX)
- Charcot-Marie-Tooth disease, type 4H (FGD4)
- Charcot-Marie-Tooth disease, type 4J (FIG4)
- Charcot-Marie-Tooth disease, type 4K (SURF1)
- Charcot-Marie-Tooth neuropathy, XLD, 1 (GJB1)
- Congenital cataracts, facial dysmorphism + neuropathy (CTDP1)
- Deafness, congenital + adult-onset progressive leukoencephalopathy (KARS1)
- Dejerine-Sottas disease (EGR2, MPZ, PMP22, PRX)
- Hemolytic anemia due to hexokinase deficiency (HK1)
- Hypomyelinating neuropathy, congenital, 1 (EGR2)
- Hypomyelinating neuropathy, congenital, 2 (MPZ)
- Hypomyelinating neuropathy, congenital, 3 (CNTNAP1)
- Infantile-onset multisystem neurologic, endocrine + pancreatic disease 2 (YARS1)
- Mononeuropathy of the median nerve, mild (SBF2)
- Neuropathy, hereditary motor + sensory, Russe type (HK1)
- Neuropathy, hereditary, with/-out age-related macular degeneration (FBLN5)
- Neuropathy, inflammatory demyelinating (PMP22)
- Neuropathy, recurrent, with pressure palsies (PMP22)
- Sorbitol dehydrogenase deficiency with peripheral neuropathy (SORD)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
G60.0
Bioinformatik und klinische Interpretation
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