English
Klinische FragestellungZehenspitzen-Gang, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Zehenspitzen-Gang mit 2 "core candidate"-Genen sowie insgesamt 14 kuratierten Genen
ID
ZP2581
Anzahl Gene
14
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
4,4 kb (Core-/Core-canditate-Gene)
38,3 kb (Erweitertes Panel: inkl. additional genes)
38,3 kb (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 |
|---|---|---|---|---|
| PMP22 | 483 | NM_000304.4 | AD | |
| SH3TC2 | 3867 | NM_024577.4 | AR | |
| AIFM1 | 1842 | NM_004208.4 | XLR | |
| DHTKD1 | 2760 | NM_018706.7 | AD | |
| EGR2 | 1431 | NM_000399.5 | AD, AR | |
| FGD4 | 2301 | NM_139241.3 | AR | |
| GDAP1 | 1077 | NM_018972.4 | AR, AD | |
| KCNC3 | 2274 | NM_004977.3 | AD | |
| KIF1B | 5313 | NM_015074.3 | AD | |
| MORC2 | 3140 | NM_014941.3 | AD | |
| NAGLU | 2232 | NM_000263.4 | AD | |
| NEFL | 1633 | NM_006158.5 | AD, AR | |
| PRX | 4386 | NM_181882.3 | AR | |
| SBF2 | 5550 | NM_030962.4 | AR |
Infos zur Erkrankung
Synonyme
- Alias: Zehen-Gang
- Allelic: Alpha-aminoadipic + alpha-ketoadipic aciduria (DHTKD1)
- Allelic: Alpha-aminoadipic and alpha-ketoadipic aciduria (AIFM1)
- Allelic: Combined oxidative phosphorylation deficiency 6 (AIFM1)
- Allelic: Deafness, XL 5 (AIFM1)
- Allelic: Dejerine-Sottas disease (EGR2)
- Allelic: Dejerine-Sottas disease (PMP22)
- Allelic: Dejerine-Sottas disease (PRX)
- Allelic: Mononeuropathy of the median nerve, mild (SH3TC2)
- Allelic: Mucopolysaccharidosis type IIIB, Sanfilippo B (NAGLU)
- Allelic: Neuroblastoma, susceptibility to, 1 (KIF1B)
- Allelic: Neuropathy, inflammatory demyelinating (PMP22)
- Allelic: Neuropathy, recurrent, with pressure palsies (PMP22)
- Allelic: Pheochromocytoma (KIF1B)
- Allelic: Roussy-Levy syndrome (PMP22)
- Allelic: Spondyloepimetaphyseal dysplasia, XL, with hypomyelinating leukodystrophy (AIFM1)
- Charcot-Marie-Tooth disease, axonal, type 2K (GDAP1)
- Charcot-Marie-Tooth disease, axonal, type 2Q (AIFM1)
- Charcot-Marie-Tooth disease, axonal, type 2Q (DHTKD1)
- Charcot-Marie-Tooth disease, axonal, type 2V (NAGLU)
- Charcot-Marie-Tooth disease, axonal, type 2Z (MORC2)
- Charcot-Marie-Tooth disease, axonal, with vocal cord paresis (GDAP1)
- Charcot-Marie-Tooth disease, dominant intermediate G (NRFL)
- Charcot-Marie-Tooth disease, recessive intermediate, A (GDAP1)
- Charcot-Marie-Tooth disease, type 1A (PMP22)
- Charcot-Marie-Tooth disease, type 1D (EGR2)
- Charcot-Marie-Tooth disease, type 1E (PMP22)
- Charcot-Marie-Tooth disease, type 1F (NRFL)
- Charcot-Marie-Tooth disease, type 2A1 (KIF1B)
- Charcot-Marie-Tooth disease, type 2E (NRFL)
- Charcot-Marie-Tooth disease, type 4A (GDAP1)
- Charcot-Marie-Tooth disease, type 4B2 (SBF2)
- Charcot-Marie-Tooth disease, type 4C (SH3TC2)
- Charcot-Marie-Tooth disease, type 4F (PRX)
- Charcot-Marie-Tooth disease, type 4H (FGD4)
- Cowchock syndrome (AIFM1)
- Developmental delay, impaired growth, dysmorphic facies, axonal neuropathy (MORC2)
- Hypomyelinating neuropathy, congenital, 1 (EGR2)
- Spinocerebellar ataxia 13 (KCNC3)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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