English
Klinische FragestellungMDS - mtDNA-Depletionssyndrome, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für MDS - Mitochondriale DNA-Depletionssyndrome mit 23 Leitlinien-kuratierten bzw. insgesamt 25 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
MP9873
Anzahl Loci
| Locus-Typ | Anzahl |
|---|---|
| Gen | 23 |
Untersuchte Sequenzlänge
35,6 kb (Core-/Core-canditate-Gene)
- (Erweitertes Panel: inkl. additional genes)
- (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
- EDTA-Blut (3-5 ml)
- Gewebeprobe
Diagnostische Hinweise
NGS +
[Sanger]
Loci
Gen
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| ABAT | 1503 | NM_000663.5 | AR | |
| AFG3L2 | 2394 | NM_006796.3 | AD, AR | |
| AGK | 1269 | NM_018238.4 | AR | |
| DGUOK | 834 | NM_080916.3 | AR | |
| DNA2 | 3183 | NM_001080449.3 | AD | |
| DNM1L | 2211 | NM_012062.5 | AD, AR | |
| FBXL4 | 1866 | NM_012160.5 | AR | |
| GFER | 618 | NM_005262.3 | AR | |
| MFN2 | 2274 | NM_014874.4 | AD, AR | |
| MGME1 | 1035 | NM_052865.4 | AR | |
| MPV17 | 531 | NM_002437.5 | AR | |
| OPA1 | 2883 | NM_015560.3 | AD, AR | |
| POLG | 3720 | NM_002693.3 | AD, AR | |
| RNASEH1 | 869 | NM_002936.6 | AR | |
| RRM2B | 1272 | NM_015713.5 | AD, AR | |
| SLC25A21 | 897 | NM_001171170.2 | AR | |
| SLC25A4 | 897 | NM_001151.4 | AD, AR | |
| SUCLA2 | 1392 | NM_003850.3 | AR | |
| SUCLG1 | 1041 | NM_003849.4 | AR | |
| TFAM | 645 | NM_001270782.2 | AR | |
| TK2 | 705 | NM_001172643.1 | AR | |
| TWNK | 2055 | NM_021830.5 | AD, AR | |
| TYMP | 1449 | NM_001953.5 | AR |
Infos zur Erkrankung
Synonyme
- Allelic: Glaucoma, normal tension, susceptibility to (OPA1)
- Allelic: Optic atrophy 5 (DNM1L)
- Allelic: Perrault syndrome 5 (TWNK)
- Allelic: Seckel syndrome 8 (DNA2)
- Behr syndrome (OPA1)
- Charcot-Marie-Tooth disease, axonal, type 2A2B + 2A2A (MFN2)
- Charcot-Marie-Tooth disease, axonal, type 2EE (MPV17)
- Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 (DNM1L)
- GABA-transaminase deficiency (ABAT)
- Hereditary motor + sensory neuropathy VIA (MFN2)
- Mitochondrial DNA depletion syndrome 1 [MNGIE type] (TYMP)
- Mitochondrial DNA depletion syndrome 11 (MGME1)
- Mitochondrial DNA depletion syndrome 12A [cardiomyopathic type] (SLC25A4)
- Mitochondrial DNA depletion syndrome 12B [cardiomyopathic type] (SLC25A4)
- Mitochondrial DNA depletion syndrome 13 [encephalomyopathic type] (FBXL4)
- Mitochondrial DNA depletion syndrome 14 [encephalocardiomyopathic type] (OPA1)
- Mitochondrial DNA depletion syndrome 15 [hepatocerebral type] (TFAM)
- Mitochondrial DNA depletion syndrome 16, hepatic type (POLG2)
- Mitochondrial DNA depletion syndrome 16B, neuroophthalmic type (POLG2)
- Mitochondrial DNA depletion syndrome 18 (SLC25A21)
- Mitochondrial DNA depletion syndrome 2 [myopathic type] (TK2)
- Mitochondrial DNA depletion syndrome 3 [hepatocerebral type] (DGUOK)
- Mitochondrial DNA depletion syndrome 4A [Alpers type] (POLG)
- Mitochondrial DNA depletion syndrome 4B [MNGIE type] (POLG)
- Mitochondrial DNA depletion syndrome 5 [encephalomyopathy +/- methylmalonic aciduria] (SUCLA2)
- Mitochondrial DNA depletion syndrome 6 [hepatocerebral type] (MPV17)
- Mitochondrial DNA depletion syndrome 7 [hepatocerebral type] (TWNK)
- Mitochondrial DNA depletion syndrome 8A [encephalomyopathic type with renal tubulopathy] (RRM2B)
- Mitochondrial DNA depletion syndrome 8B [MNGIE type] (RRM2B)
- Mitochondrial DNA depletion syndrome 9 [encephalomyopathic type + methylmalonic aciduria] (SUCLG1)
- Mitochondrial recessive ataxia syndrome [includes SANDO + SCAE] (POLG)
- Myopathy, mitochondrial progressive, with congenital cataract + developmental delay (GFER)
- Optic atrophy 1 (OPA1)
- Optic atrophy plus syndrome (OPA1)
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 2 (SLC25A4)
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 3 (TWNK)
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 4 (POLG2)
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 6 (DNA2)
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, AR 2 (RNASEH1)
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, AR 3 (TK2)
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, AR 4 (DGUOK)
- Progressive external ophthalmoplegia, AD 1 (POLG)
- Sengers syndrome (AGK)
- Spastic ataxia 5, AR (AFG3L2)
- mtDNA depletion [panelapp amber] (LIG3)
- mtDNA depletion syndrome 10 [panelapp red] (AGK)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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