English
ErkrankungRiboflavin-Transporter-Defizienz, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Riboflavin-Transporter-Defizienz mit 2 bzw. zusammen genommen 17 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
RP5557
Anzahl Gene
17
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
2,8 kb (Core-/Basis-Gene)
24,6 kb (Erweitertes Panel)
24,6 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Erbgang |
|---|---|---|---|
| SLC52A2 | 1338 | AR | |
| SLC52A3 | 1410 | AR | |
| AAAS | 1641 | AR | |
| BSCL2 | 1197 | AD und/oder AR | |
| C9orf72 | 1446 | AD | |
| ETFA | 1002 | AR | |
| ETFB | 768 | AR | |
| ETFDH | 1854 | AR | |
| FUS | 1581 | AD und/oder AR und/oder Gen Fusion | |
| GARS1 | 2220 | AD | |
| IGHMBP2 | 2982 | AR | |
| SLC52A1 | 1347 | AD | |
| SMN1 | 885 | AR | |
| SOD1 | 465 | AD und/oder AR | |
| TARDBP | 1245 | AD | |
| UBQLN2 | 1875 | XLD | |
| VWA1 | 1341 | AR |
Infos zur Erkrankung
Synonyme
- Alias: Bulbar palsy, progressive, with sensorineural deafness (SLC52A3)
- Alias: Sensorineural deafness-pontobulbar palsy syndrome
- Alias: Sensorineural hearing loss-pontobulbar palsy syndrome
- Allelic: Charcot-Marie-Tooth disease, axonal, type 2S (IGHMBP2)
- Allelic: Charcot-Marie-Tooth disease, type 2D (GARS1)
- Allelic: Essential tremor, hereditary, 4 (FUS)
- Allelic: Lipodystrophy, congenital generalized, type 2 (BSCL2)
- Achalasia-addisonianism-alacrimia syndrome (AAAS)
- Amyotrophic lateral sclerosis 1 (SOD1)
- Amyotrophic lateral sclerosis 10, with/-out FTD (TARDBP)
- Amyotrophic lateral sclerosis 15, with/-out frontotemporal dementia (UBQLN2)
- Amyotrophic lateral sclerosis 6, with/-out frontotemporal dementia (FUS)
- Brown-Vialetto-Van Laere syndrome 1 (SLC52A3)
- Brown-Vialetto-Van Laere syndrome 2 (SLC52A2)
- Encephalopathy, progressive, with/-out lipodystrophy (BSCL2)
- Fazio-Londe disease (SLC52A3)
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (C9orf72)
- Frontotemporal lobar degeneration, TARDBP-related (TARDBP)
- Glutaric acidemia IIA (ETFA)
- Glutaric acidemia IIB (ETFB)
- Glutaric acidemia IIC (ETFDH)
- Neuronopathy, distal hereditary motor, type VA (GARS1)
- Neuronopathy, distal hereditary motor, type VI (IGHMBP2)
- Neuropathy, distal hereditary motor, type VC (BSCL2)
- Neuropathy, hereditary motor, with myopathic features (VWA1)
- Riboflavin deficiency (SLC52A1)
- Silver spastic paraplegia syndrome (BSCL2)
- Spastic tetraplegia + axial hypotonia, progressive (SOD1)
- Spinal muscular atrophy, infantile, James type (GARS1)
- Spinal muscular atrophy-1, -2, -3, -4 (SMN1)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AD und/oder AR und/oder Gen Fusion
- AR
- XLD
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
E88.8
Bioinformatik und klinische Interpretation
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