English
Klinische FragestellungCosteff-Syndrom, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Costeff-Syndrom mit 13 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
CP1991
Anzahl Gene
13
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
0,6 kb (Core-/Core-canditate-Gene)
16,3 kb (Erweitertes Panel: inkl. additional genes)
16,3 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 |
|---|---|---|---|---|
| OPA3 | 540 | NM_025136.4 | AR | |
| AGK | 1269 | NM_018238.4 | AR | |
| AUH | 1020 | NM_001698.3 | AR | |
| CLPB | 2034 | NM_001258392.3 | AR | |
| DNAJC19 | 351 | NM_145261.4 | AR | |
| HTRA2 | 1377 | NM_013247.5 | AR | |
| POLG | 3720 | NM_002693.3 | AR | |
| SERAC1 | 1965 | NM_032861.4 | AR | |
| SUCLA2 | 1392 | NM_003850.3 | AR | |
| SUCLG1 | 1041 | NM_003849.4 | AR | |
| TAFAZZIN | 879 | NM_000116.5 | XLR | |
| TIMM50 | 294 | NM_004085.4 | AR | |
| TMEM70 | 324 | NM_001040613.3 | AR |
Infos zur Erkrankung
Klinischer Kommentar
Optic atrophy and/or choreoathetoid movement disorder with onset before age of 10 years
Synonyme
- Alias: 3-methylglutaconic aciduria, type III (OPA3)
- Alias: Iraqi-Jewish 'Optic atrophy plus' (OPA3)
- Alias: Optic atrophy 3 with cataract (OPA3)
- Alias: Optic atrophy 3, AR (OPA3)
- Alias: Optic atrophy plus syndrome (OPA3)
- Alias: Optic atrophy, infantile, with chorea + spastic paraplegia (OPA3)
- 3-methylglutaconic aciduria with deafness, encephalopathy + Leigh-like syndrome SERAC1)
- 3-methylglutaconic aciduria, type I (AUH)
- 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)
- Allelic: Parkinson disease 13 (HTRA)
- Barth syndrome (TAFAZZZIN, TAZ)
- Cataract 38, AR (AGK)
- Mito. DNA depletion syndrome 5 [encephalomyopathic with/-out methylmalonic aciduria] (SUCLA2)
- Mito. DNA depletion syndrome 9 [encephalomyopathic type with methylmalonic aciduria] (SUCLG1)
- Mitochondrial DNA depletion syndrome 4A [Alpers type] + 4B [MNGIE type] (POLG)
- Mitochondrial complex V [ATP synthase] deficiency, nuclear type 2 (TMEM70)
- Mitochondrial recessive ataxia syndrome [includes SANDO + SCAE] (POLG)
- Progressive external ophthalmoplegia, AD 1 (POLG)
- Progressive external ophthalmoplegia, AR 1 (POLG)
- Sengers syndrome (AGK)
Erbgänge, Vererbungsmuster etc.
- AR
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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