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Klinische FragestellungHutchinson-Gilford-Progerie-Syndrom; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Hutchinson-Gilford-Progerie-Syndrom mit 2 "core"- bzw. "core candidate"-Genen und zusammen genommen 16 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
HP1773
Anzahl Gene
14
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
3,5 kb (Core-/Core-canditate-Gene)
28,0 kb (Erweitertes Panel: inkl. additional genes)
28,0 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 |
|---|---|---|---|---|
| LMNA | 1995 | NM_170707.4 | AD | |
| ZMPSTE24 | 1428 | NM_005857.5 | AR | |
| AGPAT2 | 837 | NM_006412.4 | AR | |
| B4GALT7 | 984 | NM_007255.3 | AR | |
| BANF1 | 270 | NM_001143985.1 | AR | |
| BSCL2 | 1197 | NM_032667.6 | AR | |
| ERCC6 | 4482 | NM_000124.4 | AR | |
| ERCC8 | 1191 | NM_000082.4 | AR | |
| GORAB | 1185 | NM_152281.3 | AR | |
| PDGFRB | 3321 | NM_002609.4 | AD | |
| POLR3A | 4173 | NM_007055.4 | AR | |
| PYCR1 | 960 | NM_006907.4 | AR | |
| SLC25A24 | 1650 | NM_013386.5 | AD | |
| WRN | 4299 | NM_000553.6 | AR |
Infos zur Erkrankung
Synonyme
- Allelic: Basal ganglia calcification, idiopathic, 4 (PDGFRB)
- Allelic: Cardiomyopathy, dilated, 1A (LMNA)
- Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
- Allelic: Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
- Allelic: Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
- Allelic: Heart-hand syndrome, Slovenian type (LMNA)
- Allelic: Kosaki overgrowth syndrome (PDGFRB)
- Allelic: Lipodystrophy, familial partial, type 2 (LMNA)
- Allelic: Malouf syndrome (LMNA)
- Allelic: Mandibuloacral dysplasia (LMNA)
- Allelic: Muscular dystrophy, congenital (LMNA)
- Allelic: Myeloproliferative disorder with eosinophilia (PDGFRB)
- Allelic: Myofibromatosis, infantile, 1 (PDGFRB)
- Allelic: Neuropathy, distal hereditary motor, type VC (BSCL2)
- Allelic: Premature ovarian failure 11 (ERCC6)
- Allelic: Restrictive dermopathy, lethal (LMNA)
- Allelic: Silver spastic paraplegia syndrome (BSCL2)
- Allelic: UV-sensitive syndrome 1 (ERCC6)
- Allelic: UV-sensitive syndrome 2 (ERCC8)
- Cerebrooculofacioskeletal syndrome 1 (ERCC6)
- Cockayne syndrome, type A (ERCC8)
- Cockayne syndrome, type B (ERCC6)
- Cutis laxa, AR, type IIB + IIIB (PYCR1)
- De Sanctis-Cacchione syndrome (ERCC6)
- Ehlers-Danlos syndrome, spondylodysplastic type, 1 (B4GALT7)
- Emery-Dreifuss muscular dystrophy 1, XL (EMD)
- Encephalopathy, progressive, with/-out lipodystrophy (BSCL2)
- Fontaine progeroid syndrome (SLC25A24)
- Geroderma osteodysplasticum (GORAB)
- Hemophagocytic lymphohistiocytosis, familial, 1 (FHL1)
- Hutchinson-Gilford progeria (LMNA)
- Leukodystrophy, hypomyelin., 7, with/-out oligodontia and/or hypogonadotropic hypogonadism (POLR3A)
- Lipodystrophy, congenital generalized, type 1 (AGPAT2)
- Lipodystrophy, congenital generalized, type 2 (BSCL2)
- Lipodystrophy, familial partial, type 2 (LMNA)
- Mandibuloacral dysplasia (LMNA)
- Mandibuloacral dysplasia with type B lipodystrophy (ZMPSTE24)
- Nestor-Guillermo progeria syndrome (BANF1)
- Premature aging syndrome, Penttinen type (PDGFRB)
- Restrictive dermopathy, lethal (ZMPSTE24)
- Werner syndrome (WRN)
- Wiedemann-Rautenstrauch syndrome (POLR3A)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
E34.8
Bioinformatik und klinische Interpretation
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