English
ErkrankungAktionsmyoklonus-Nierenversagen-Syndrom, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Aktionsmyoklonus-Nierenversagen-Syndrom, mit zusammen genommen 33 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
AP9225
Anzahl Gene
29
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
1,5 kb (Core-/Basis-Gene)
54,3 kb (Erweitertes Panel)
54,3 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS + X
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Erbgang |
|---|---|---|---|
| SCARB2 | 1437 | AR | |
| ACMSD | 1011 | Ass | |
| CERS1 | 1064 | AR | |
| CLN5 | 1077 | AR | |
| CLN6 | 936 | AR | |
| CNTN2 | 3123 | AR | |
| CSTB | 297 | AR | |
| DNAJC5 | 597 | AD | |
| EPM2A | 996 | AR | |
| GBA | 1611 | AD und/oder AR und/oder Sus | |
| GOSR2 | 639 | AR | |
| INF2 | 3750 | AD | |
| KCNC1 | 1758 | AD | |
| KCTD7 | 870 | AR | |
| LMNB2 | 1863 | AD und/oder AR | |
| NEU1 | 1248 | AR | |
| NHLRC1 | 1188 | AR | |
| PRDM8 | 2078 | AR | |
| PRICKLE1 | 2496 | AR | |
| PRICKLE2 | 2535 | AR | |
| RAPGEF2 | 5220 | AD | |
| SAMD12 | 795 | AD und/oder AR | |
| SEMA6B | 2701 | AD | |
| SERPINI1 | 1233 | AD | |
| SGCE | 1314 | AD | |
| SLC7A6OS | 943 | AR | |
| STARD7 | 1121 | AD | |
| TNRC6A | 5995 | AD | |
| YEATS2 | 4308 | AD |
Infos zur Erkrankung
Synonyme
- Alias: Myoclonus-nephropathy syndrome
- Alias: Myoklonus-Nephropathie-Syndrom
- Alias: Myoklonusepilepsie, progressive, Typ 4
- Alias: Progressive myoclonic epilepsy type 4
- Alias: Progressive myoclonus epilepsy type 4
- Allelic: Aphasia, primary progressive (GRN)
- Allelic: Congenital hypotonia, epilepsy, developmental delay + digital anomalies (ATN1)
- Allelic: Frontotemporal lobar degeneration with ubiquitin-positive inclusions (GRN)
- Allelic: Gaucher disease, perinatal lethal (GBA)
- Allelic: Lewy body dementia, susceptibility to (GBA)
- Allelic: Lipodystrophy, partial, acquired, susceptibility to (LMNB2)
- Allelic: Microcephaly 27, primary, AD (LMNB2)
- Allelic: Parkinson disease, late-onset, susceptibility to (GBA)
- Ceroid lipofuscinosis, neuronal, 1 (PPT1)
- Ceroid lipofuscinosis, neuronal, 11 (GRN)
- Ceroid lipofuscinosis, neuronal, 4, Parry type (DNAJC5)
- Ceroid lipofuscinosis, neuronal, 5 (CLN5)
- Ceroid lipofuscinosis, neuronal, 6 (CLN6)
- Ceroid lipofuscinosis, neuronal, Kufs type, adult onset (CLN6)
- Charcot-Marie-Tooth disease, dominant intermediate E (INF2)
- Dentatorubral-pallidoluysian atrophy (ATN1)
- Dystonia-11, myoclonic (SGCE)
- Encephalopathy, familial, with neuroserpin inclusion bodies (SERPINI1)
- Epilepsy, familial adult myoclonic 1 (SAMD12)
- Epilepsy, familial adult myoclonic 2 (STARD7)
- Epilepsy, familial adult myoclonic 4 (YEATS2)
- Epilepsy, familial adult myoclonic 5 (CNTN2)
- Epilepsy, familial adult myoclonic 6 /TVRC6A)
- Epilepsy, familial adult myoclonic 7 (RAPGEF2)
- Epilepsy, progressive myoclonic 10 (PRDM8)
- Epilepsy, progressive myoclonic 11 (SEMA6B)
- Epilepsy, progressive myoclonic 12 (SLC7A6OS)
- Epilepsy, progressive myoclonic 1A [Unverricht + Lundborg] (CSTB)
- Epilepsy, progressive myoclonic 1B (PRICKLE1)
- Epilepsy, progressive myoclonic 2A [Lafora] (EPM2A)
- Epilepsy, progressive myoclonic 2B [Lafora] (NHLRC1)
- Epilepsy, progressive myoclonic 3, with/-out intracellular inclusions (KCTD7)
- Epilepsy, progressive myoclonic 4, with/-out renal failure (SCARB2)
- Epilepsy, progressive myoclonic 5 (PRICKLE2)
- Epilepsy, progressive myoclonic 6 (GOSR2)
- Epilepsy, progressive myoclonic 7 (KCNC1)
- Epilepsy, progressive myoclonic 8 (CERS1)
- Epilepsy, progressive myoclonic 9 (LMNB2)
- Gaucher disease, type I, II, III, IIIC (GBA)
- Glomerulosclerosis, focal segmental, 5 (INF2)
- Sialidosis, types I + II (NEU1)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AD und/oder AR und/oder Sus
- AR
- Ass
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
G25.3
Bioinformatik und klinische Interpretation
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