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Klinische FragestellungRiboflavin-Transporter-Defizienz, Differentialdiagnose

Auftragsschein Klin. Fragestellung
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Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Riboflavin-Transporter-Defizienz mit 2 "core-candidate"-Genen, 5 Leitlinien-kuratierten bzw. zusammen genommen 22 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
RP5557
Anzahl Loci
Locus-TypAnzahl
Gen 19
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
2,8 kb (Core-/Core-canditate-Gene)
27,5 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Loci

Gen

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
SLC52A21338NM_024531.5AR
SLC52A31410NM_033409.4AR
AAAS1641NM_015665.6AR
BSCL21197NM_032667.6AR
C9orf721446NM_018325.5AD
CHCHD10429NM_213720.3AR
ETFA1002NM_000126.4AR
ETFB768NM_001985.3AR
ETFDH1854NM_004453.4AR
FUS1581NM_004960.4AD
GARS12220NM_002047.4AD
IGHMBP22982NM_002180.3AR
SLC52A11347NM_001104577.2AD
SMN1885NM_000344.4AR
SOD1465NM_000454.5AR, AD
TARDBP1245NM_007375.4AD
UBQLN21875NM_013444.4XL
VCP2421NM_007126.5AR
VWA11341NM_022834.5AR

Infos zur Erkrankung

Synonyme
  • Alias: Bulbar palsy, progressive, with sensorineural deafness (SLC52A3)
  • Alias: Bulbärparalyse, progressive, mit sensorineuraler Taubheit (SLC52A3)
  • Alias: Sensorineural deafness-pontobulbar palsy syndrome
  • Alias: Sensorineural hearing loss-pontobulbar palsy syndrome
  • Allelic: COACH syndrome 1 (TMEM67)
  • 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)
  • Allelic: Meckel syndrome 3 (TMEM67)
  • Allelic: Nephronophthisis 11 (TMEM67)
  • Allelic: RHYNS syndrome (TMEM67)
  • Achalasia-addisonianism-alacrimia syndrome (AAAS)
  • Allelic: COACH syndrome 2 (CC2D2A)
  • Allelic: Meckel syndrome 6 (CC2D2A)
  • Allelic: Retinitis pigmentosa 93 (CC2D2A)
  • 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)
  • Charcot-Marie-Tooth disease, type 2Y (VCP)
  • Encephalopathy, progressive, with/-out lipodystrophy (BSCL2)
  • Fazio-Londe disease (SLC52A3)
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (C9orf72)
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (VCP)
  • Frontotemporal lobar degeneration, TARDBP-related (TARDBP)
  • Glutaric acidemia IIA (ETFA)
  • Glutaric acidemia IIB (ETFB)
  • Glutaric acidemia IIC (ETFDH)
  • Inclusion body myopathy + early-onset Paget disease + frontotemporal dementia 1 (VCP)
  • Joubert syndrome 17 (CPLANE1)
  • Joubert syndrome 6 (TMEM67)
  • Joubert syndrome 9 (CC2D2A)
  • 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)
  • Orofaciodigital syndrome VI (CPLANE1)
  • 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
  • AR
  • XL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

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