English
Klinische FragestellungSERAC1-Defizienz, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für SERAC1-Defizienz mit zusammen genommen 17 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
SP9947
Anzahl Gene
16
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
2,0 kb (Core-/Core-canditate-Gene)
17,4 kb (Erweitertes Panel: inkl. additional genes)
17,4 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (7,5-9 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| SERAC1 | 1965 | NM_032861.4 | AR | |
| ACTB | 1128 | NM_001101.5 | AD | |
| AGK | 1269 | NM_018238.4 | AR | |
| ATAD3A | 1761 | NM_001170535.3 | AD, AR | |
| AUH | 1020 | NM_001698.3 | AR | |
| BCAP31 | 741 | NM_001139441.1 | XLR | |
| CLPB | 2034 | NM_001258392.3 | AR, AD | |
| DNAJC19 | 351 | NM_145261.4 | AR | |
| FITM2 | 791 | NM_001080472.4 | AR | |
| HTRA2 | 1377 | NM_013247.5 | AR | |
| OPA3 | 540 | NM_025136.4 | AR | |
| SUCLA2 | 1392 | NM_003850.3 | AR | |
| TAFAZZIN | 879 | NM_000116.5 | XLR | |
| TIMM50 | 1455 | NM_001001563.5 | AR | |
| TIMM8A | 294 | NM_004085.4 | XLR | |
| TMEM70 | 324 | NM_001040613.3 | AR |
Infos zur Erkrankung
Synonyme
- MEGD(H)EL s: 3-methylglutaconic aciduria, deafness-dystonia, (hepatop.), encephalop., Leigh-like s.
- MEGDEL Syndrom
- SERAC1 deficiency: MRGD(H)EL syndrome, spastic paraplegia, dystonia
- 3-methylglutaconic aciduria with deafness, encephalopathy + Leigh-like syndrome (SERAC1)
- 3-methylglutaconic aciduria, type I (AUH)
- 3-methylglutaconic aciduria, type III (OPA3)
- 3-methylglutaconic aciduria, type IX (TIMM50)
- 3-methylglutaconic aciduria, type V (DNAJC19)
- 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement + neutropenia (CLPB)
- 3-methylglutaconic aciduria, type VIII (HTRA2)
- Baraitser-Winter syndrome (ACTB)
- Barth syndrome, 3-methylglutaconic aciduria, type II (TAFAZZIN)
- Combined oxidative phosphorylation deficiency 37 (MICOS13 syn. C19orf70)
- Deafness, dystonia, and cerebral hypomyelination (BCAP31)
- Dystonia, juvenile-onset (ACTB)
- Harel-Yoon syndrome (ATAD3A)
- Mitochondrial DNA depletion syndrome 5, encephalomyopathic +/- methylmalonic aciduria (SUCLA2)
- Mitochondrial complex V [ATP synthase] deficiency, nuclear type 2 (TMEM70)
- Mohr-Tranebjaerg syndrome (TIMM8A)
- Pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome, neonatal lethal (ATAD3A)
- Sengers syndrome (AGK)
- Siddiqi syndrome (FITM2)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
F84.-
Bioinformatik und klinische Interpretation
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