English
Klinische FragestellungMitochondriale Erkrankungen, Komplex III-Defizienz; Differentialdiagnose
Zusammenfassung
Kurzinformation
Ein kuratiertes panel mit 15 Genen zur umfassenden Untersuchung der Verdachtsdiagnose Mitochondriale Erkrankungen; Komplex III-Defizienz
ID
MP3357
Anzahl Loci
| Loci-Typ | Anzahl |
|---|---|
| Gen | 12 |
Untersuchte Sequenzlänge
4,0 kb (Core-/Core-canditate-Gene)
8,5 kb (Erweitertes Panel: inkl. additional genes)
8,5 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
- EDTA-Blut (3-5 ml)
- Gewebeprobe
Diagnostische Hinweise
NGS +
Locipanel
Gen
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| BCS1L | 1260 | NM_004328.5 | AR | |
| CYC1 | 978 | NM_001916.5 | AR | |
| LYRM7 | 315 | NM_181705.4 | AR | |
| TTC19 | 822 | NM_001271420.2 | AR | |
| UQCC2 | 385 | NM_032340.4 | AR | |
| UQCRB | 240 | NM_001199975.3 | AR | |
| UQCC3 | 284 | NM_001085372.3 | AR | |
| UQCRC1 | 1443 | NM_003365.3 | n.k. | |
| UQCRC2 | 1362 | NM_003366.4 | AR | |
| UQCRFS1 | 825 | NM_006003.3 | AR | |
| UQCRH | 276 | NM_006004.4 | AR | |
| UQCRQ | 249 | NM_014402.5 | AR |
Infos zur Erkrankung
Klinischer Kommentar
illness_ClinicalComment_MP3357
Synonyme
- Alias: Isolated CoQ-cytochrome c reductase deficiency
- Alias: Ubiquinone-cytochrome c oxidoreductase deficiency
- Bjornstad syndrome (BCS1L)
- GRACILE syndrome (BCS1L)
- Mitochondrial complex III deficiency, nuclear type 1 (BCS1L)
- Mitochondrial complex III deficiency, nuclear type 10 (UQRFS1)
- Mitochondrial complex III deficiency, nuclear type 2 (TTC19)
- Mitochondrial complex III deficiency, nuclear type 3 (UQCRB)
- Mitochondrial complex III deficiency, nuclear type 4 (UQCRQ)
- Mitochondrial complex III deficiency, nuclear type 5 (UQCRC2)
- Mitochondrial complex III deficiency, nuclear type 6 (CYC1)
- Mitochondrial complex III deficiency, nuclear type 7 (UQCC2)
- Mitochondrial complex III deficiency, nuclear type 8 (LYRM7)
- Mitochondrial complex III deficiency, nuclear type 9 (UQCC3)
- [No phenotypes: UQCC1, UQCC3, UQCR10, UQCR11]
Erbgänge, Vererbungsmuster etc.
- AR
- n.k.
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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