Klinische FragestellungArachnodaktylie, kongenitale kontrakturale; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Arachnodaktylie, kongenitale kontrakturale, mit zusammen genommen 32 kuratierten Genen gemäß klinischer Verdachtsdiagnose

AP9239

Anzahl Gene

31 Akkreditierte Untersuchung

Untersuchte Sequenzlänge

8,8 kb (Core-/Core-canditate-Gene)
114,1 kb (Erweitertes Panel: inkl. additional genes)

Analyse-Dauer

auf Anfrage

Untersuchungsmaterial

EDTA-Blut (3-5 ml)

Diagnostische Hinweise

NGS +

Genpanel

Ausgewählte Gene

Name	Exon-Länge (bp)	OMIM-G	Referenz-Seq.	Erbgang
FBN2	8739	612570	NM_001999.4	AD
CBS	1656	613381	NM_000071.3	AR
COL11A1	5421	120280	NM_001854.4	AD
COL11A2	5211	120290	NM_080680.3	AD
COL12A1	9192	120320	NM_004370.6	AD, AR
COL2A1	4464	120140	NM_001844.5	AD, AR
COL6A1	3087	120220	NM_001848.3	AD, AR
COL6A2	3060	120240	NM_001849.4	AD, AR
COL6A3	9534	120250	NM_004369.4	AD, AR
COL9A1	2766	120210	NM_001851.6	AR
COL9A2	2070	120260	NM_001852.4	AR
COL9A3	2055	120270	NM_001853.4	AR
ECEL1	2328	605896	NM_004826.4	AR
FBN1	8616	134797	NM_000138.5	AD
FKBP10	1749	607063	NM_021939.4	AR
MYBPC1	3516	160794	NM_002465.4	AD, AR
MYH3	5823	160720	NM_002470.4	AD, AR
MYH8	5814	160741	NM_002472.3	AD
NALCN	5217	611549	NM_052867.4	AD
PIEZO2	8259	613629	NM_022068.4	AD, AR
PLOD2	2277	601865	NM_182943.3	AR
SCARF2	2613	613619	NM_153334.7	AR
SMAD2	1404	601366	NM_005901.6	AD
SMAD3	1278	603109	NM_005902.4	AD
TGFB2	1245	190220	NM_003238.6	AD
TGFB3	1239	190230	NM_003239.5	AD
TGFBR1	1512	190181	NM_004612.4	AD
TGFBR2	1704	190182	NM_003242.6	AD
TNNI2	549	191043	NM_003282.4	AD
TNNT3	777	600692	NM_006757.4	AD
TPM2	855	190990	NM_003289.4	AD

Infos zur Erkrankung

Synonyme

Alias: Beals syndrome (FBN2)
Alias: Congenital contractural arachnodactyly (FBN2)
Allelic: Macular degeneration, early-onset (FBN2)
Achondrogenesis, type II or hypochondrogenesis (COL2A1)
Alias: Beals-Hecht syndrome
Arthrogryposis, distal, type 1A (TPM2)
Arthrogryposis, distal, type 1B (MYBPC1)
Arthrogryposis, distal, type 2A [Freeman-Sheldon] (MYH3)
Arthrogryposis, distal, type 2B1 (TNNI2)
Arthrogryposis, distal, type 2B2 (TNNT3)
Arthrogryposis, distal, type 2B3 [Sheldon-Hall] (MYH3)
Arthrogryposis, distal, type 2B4 (TPM2)
Arthrogryposis, distal, type 3 (PIEZO2)
Arthrogryposis, distal, type 5 (PIEZO2)
Arthrogryposis, distal, type 5D Arthrogryposis, distal, type 5D (ECEL1)
Arthrogryposis, distal, with impaired proprioception a+ touch (PIEZO2)
Bethlem myopathy 1 (COL6A1, COL6A2, COL6A3)
Bethlem myopathy 2 (COL12A1)
Boudin-Mortier syndrome (NPR3)
Bruck syndrome 1 (FKBP10)
Bruck syndrome 2 (PLOD2)
Congenital contractures of the limbs + face, hypotonia + developmental delay (NALCN)
Contractural arachnodactyly, congenital (FBN2)
Contractures, pterygia + spondylocarpostarsal fusion syndrome 1A (MYH3)
Contractures, pterygia + spondylocarpotarsal fusion syndrome 1B (MYH3)
Czech dysplasia (COL2A1)
Epiphyseal dysplasia, multiple, 2 (COL9A2)
Epiphyseal dysplasia, multiple, 3, with/-out myopathy (COL9A3)
Epiphyseal dysplasia, multiple, 6 (COL9A1)
Epiphyseal dysplasia, multiple, with myopia + deafness (COL2A1)
Fibrochondrogenesis 1 (COL11A1)
Fibrochondrogenesis 2 (COL11A2)
Homocystinuria, B6-responsive + nonresponsive types (CBS)
Kniest dysplasia (COL2A1)
Legg-Calve-Perthes disease (COL2A1)
Lethal congenital contracture syndrome 4 (MYBPC1)
Loeys-Dietz syndrome 1 (TGFBR1)
Loeys-Dietz syndrome 2 (TGFBR2)
Loeys-Dietz syndrome 3 (SMAD3)
Loeys-Dietz syndrome 4 (TGFB2)
Loeys-Dietz syndrome 5 (TGFB3)
Loeys-Dietz syndrome [MONDO:0018954] (SMAD2)
MASS syndrome (FBN1)
Marden-Walker syndrome (PIEZO2)
Marfan syndrome (FBN1)
Marshall syndrome (COL11A1)
Myosclerosis, congenital (COL6A2)
Osteogenesis imperfecta, type XI (FKBP10)
Otospondylomegaepiphyseal dysplasia, AD + AR (COL11A2)
Platyspondylic skeletal dysplasia, Torrance type (COL2A1)
SED congenita (COL2A1)
SMED Strudwick type (COL2A1)
Spondyloepiphyseal dysplasia, Stanescu type (COL2A1)
Spondyloperipheral dysplasia (COL2A1)
Stickler syndrome, type I (COL2A1)
Stickler syndrome, type II (COL11A1)
Stickler syndrome, type IV (COL9A1)
Stickler syndrome, type V (COL9A2)
Trismus-pseudocamptodactyly syndrome (MYH8)
Ullrich congenital muscular dystrophy 1 (COL6A1, COL6A2, COL6A3)
Ullrich congenital muscular dystrophy 2 (COL12A1)
Van den Ende-Gupta syndrome (SCARF2)

Erbgänge, Vererbungsmuster etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatik und klinische Interpretation

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