IllnessRiboflavin transporter deficiency, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Riboflavin transporter deficiency comprising 2 core candidate genes, 5 guideline-curated genes and altogether 22 curated genes according to the clinical signs

RP5557

Number of genes

19 Accredited laboratory test

Examined sequence length

2,8 kb (Core-/Core-canditate-Genes)
27,5 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Test material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
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
CHCHD10	429	615903	NM_213720.3	AR
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
VCP	2421	601023	NM_007126.5	AR
VWA1	1341	611901	NM_022834.5	AR

Informations about the disease

Synonyms

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)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined