Klinische FragestellungSpondylocarpotarsale Synostose, Differentialdiagnose

Zusammenfassung

Kurzinformation

Ein umfassendes differentialdiagnostisches panel mit 1 "core"-Gen, 10 "core candidate"-Genen und insgesamt 12 Genen für Spondylocarpotarsale Synostose gemäß der klinischen Symptomatik

SP3149

Anzahl Loci

Locus-Typ	Anzahl
Gen	2

Akkreditierte Untersuchung

Untersuchte Sequenzlänge

9,2 kb (Core-/Core-canditate-Gene)
- (Erweitertes Panel: inkl. additional genes)

Analyse-Dauer

auf Anfrage

Untersuchungsmaterial

EDTA-Blut (3-5 ml)

Diagnostische Hinweise

NGS +

Loci

Gen

Name	Exon-Länge (bp)	OMIM-G	Referenz-Seq.	Erbgang
FLNB	7809	603381	NM_001457.4	AR
GDF6	1368	601147	NM_001001557.4	AD

Infos zur Erkrankung

Synonyme

Mild to severe symptoms: SCT syndrome + Larsen syndrome > AOI +AOIII + POCD
Atelosteogenesis types I, AOI (FLNB) + III AOIII (FLNB)
Larsen syndrome (FLNB)
Piepkorn osteochondrodysplasia, POCD (FLNB)
Spondylocarpotarsal synostosis, SCT syndrome (FLNB)
Allelic: Acromesomelic dysplasia 2A (GDF5)
Allelic: Acromesomelic dysplasia 2B (GDF5)
Allelic: Acromesomelic dysplasia 2C, Hunter-Thompson type (GDF5)
Allelic: Brachydactyly, type A1, C (GDF5)
Allelic: Brachydactyly, type A2 (GDF5)
Allelic: Brachydactyly, type B2 (NOG)
Allelic: Brachydactyly, type C (GDF5)
Allelic: Leber congenital amaurosis 17 (GDF6)
Allelic: Microphthalmia with coloboma 6, digenic (GDF6)
Allelic: Microphthalmia, isolated 4 (GDF6)
Allelic: Osteoarthritis-5 (GDF5)
Allelic: Stapes ankylosis with broad thumbs + toes (NOG)
Allelic: Symphalangism, proximal, 1A (NOG)
Allelic: Symphalangism, proximal, 1B (GDF5)
Arthrogryposis, distal, type 2A, Freeman-Sheldon (MYH3)
Arthrogryposis, distal, type 2B3, Sheldon-Hall (MYH3)
Contractures, pterygia, + spondylocarpostarsal fusion syndrome 1A (MYH3)
Contractures, pterygia, + spondylocarpotarsal fusion syndrome 1B (MYH3)
Klippel-Feil syndrome 1, AD (GDF6)
Multiple synostoses syndrome 1 (NOG)
Multiple synostoses syndrome 2 (GDF5)
Multiple synostoses syndrome 3 (FGF9=
Multiple synostoses syndrome 4 (GDF6)
Spondylocostal dysostosis 1, AR (DLL3)
Spondylocostal dysostosis 2, AR (MESP2)
Spondylocostal dysostosis 3, AR (LFNG)
Spondylocostal dysostosis 4, AR (HES7)
Spondylocostal dysostosis 5 (TBX6)
Spondylocostal dysostosis 6 (RIPPLY2)
Tarsal-carpal coalition syndrome (NOG)

Erbgänge, Vererbungsmuster etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatik und klinische Interpretation

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