Klinische FragestellungRiboflavin-Transporter-Defizienz, Differentialdiagnose

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

RP5557

Anzahl Gene

17 Akkreditierte Untersuchung

Untersuchte Sequenzlänge

2,8 kb (Core-/Core-canditate-Gene)
24,6 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
SLC52A2	1338	607882	NM_024531.5	AR
SLC52A3	1410	613350	NM_033409.4	AR
AAAS	1641	605378	NM_015665.6	AR
BSCL2	1197	606158	NM_032667.6	AR
C9orf72	1446	614260	NM_018325.5	AD
ETFA	1002	608053	NM_000126.4	AR
ETFB	768	130410	NM_001985.3	AR
ETFDH	1854	231675	NM_004453.4	AR
FUS	1581	137070	NM_004960.4	AD
GARS1	2220	600287	NM_002047.4	AD
IGHMBP2	2982	600502	NM_002180.3	AR
SLC52A1	1347	607883	NM_001104577.2	AD
SMN1	885	600354	NM_000344.4	AR
SOD1	465	147450	NM_000454.5	AR, AD
TARDBP	1245	605078	NM_007375.4	AD
UBQLN2	1875	300264	NM_013444.4	XL
VWA1	1341	611901	NM_022834.5	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: Bardet-Biedl syndrome 14, modifier of (TMEM67)
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.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

E88.8

Bioinformatik und klinische Interpretation

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