Klinische FragestellungArthrogrypose, neuromuskulär; Differentialdiagnose
Zusammenfassung
Kurzinformation
Ein kuratiertes panel mit 20 bzw. 72 Genen zur umfassenden Untersuchung der bekannten genetisch bedingten, neuromuskulären Formen der Arthrogrypose
ID
AP9632
Anzahl Gene
70
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
67,2 kb (Core-/Core-canditate-Gene)
201,6 kb (Erweitertes Panel: inkl. additional genes)
201,6 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
[Sanger]
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
---|---|---|---|---|
ASCC1 | 1074 | NM_001198800.3 | AR | |
BLTP1 | 15018 | NM_015312.4 | AR | |
CHAT | 2247 | NM_020549.5 | AR | |
CHRNG | 1554 | NM_005199.5 | AR | |
CHST14 | 1131 | NM_130468.4 | AR | |
ECEL1 | 2328 | NM_004826.4 | AR | |
MYBPC1 | 3516 | NM_002465.4 | AD, AR | |
MYH3 | 5823 | NM_002470.4 | AD | |
PIEZO2 | 8259 | NM_022068.4 | AD, AR | |
RAPSN | 1239 | NM_005055.5 | AR | |
RYR1 | 15117 | NM_000540.3 | AR | |
SLC5A7 | 1743 | NM_021815.5 | AR | |
STAC3 | 1095 | NM_145064.3 | AR | |
TNNI2 | 549 | NM_003282.4 | AD | |
TNNT3 | 777 | NM_006757.4 | AD | |
TOR1A | 999 | NM_000113.3 | AD | |
TPM2 | 855 | NM_003289.4 | AD | |
UBA1 | 3177 | NM_003334.4 | XLR | |
ZC4H2 | 675 | NM_018684.4 | XLR | |
ACTA1 | 1134 | NM_001100.4 | AD, AR | |
ALG3 | 1173 | NM_005787.6 | AR | |
B3GALNT2 | 1503 | NM_152490.5 | AR | |
B4GAT1 | 1248 | NM_006876.3 | AR | |
BICD2 | 2568 | NM_001003800.2 | AD | |
CHRNA1 | 1374 | NM_000079.4 | AD, AR | |
CHRNB1 | 1506 | NM_000747.3 | AD, AR | |
CHRND | 1554 | NM_000751.3 | AD, AR | |
CHRNE | 1482 | NM_000080.4 | AD, AR | |
COL12A1 | 9192 | NM_004370.6 | AD | |
COL6A1 | 3087 | NM_001848.3 | AD | |
COL6A2 | 3060 | NM_001849.4 | AD, AR | |
COL6A3 | 9534 | NM_004369.4 | AR | |
COLQ | 1368 | NM_005677.4 | AR | |
CRLF1 | 1269 | NM_004750.5 | AR | |
CRPPA | 1356 | NM_001101426.4 | AR | |
DAG1 | 2688 | NM_004393.6 | AR | |
DNM2 | 2613 | NM_001005360.3 | AR | |
DOK7 | 1515 | NM_173660.5 | AR | |
DPAGT1 | 1227 | NM_001382.4 | AR | |
DYNC1H1 | 13941 | NM_001376.5 | AD | |
FKRP | 1488 | NM_024301.5 | AR | |
FKTN | 1386 | NM_001079802.2 | AR | |
GMPPB | 1164 | NM_013334.4 | AR | |
KLHL40 | 1866 | NM_152393.4 | AR | |
KLHL7 | 1761 | NM_001031710.3 | AR | |
LAMA2 | 9369 | NM_000426.4 | AR | |
LARGE1 | 2271 | NM_004737.7 | AR | |
LGI4 | 1614 | NM_139284.3 | AR | |
LMOD3 | 1683 | NM_198271.5 | AR | |
MTM1 | 1812 | NM_000252.3 | XLR | |
MUSK | 2610 | NM_005592.4 | AR | |
MYH2 | 5826 | NM_017534.6 | AD | |
MYH7 | 5808 | NM_000257.4 | AD, AR | |
MYH8 | 5814 | NM_002472.3 | AD | |
MYL1 | 585 | NM_079420.3 | AR | |
MYMK | 671 | NM_001080483.3 | AR | |
ORAI1 | 912 | NM_032790.3 | AD | |
POMGNT1 | 1983 | NM_017739.4 | AR | |
POMK | 1053 | NM_032237.5 | AR | |
POMT2 | 2253 | NM_013382.7 | AR | |
RXYLT1 | 1355 | NM_014254.3 | AR | |
SCN4A | 5511 | NM_000334.4 | AR | |
SELENON | 1773 | NM_020451.3 | AR, AD | |
SMN1 | 885 | NM_000344.4 | AR | |
STIM1 | 2058 | NM_003156.4 | AD | |
TNNT1 | 837 | NM_003283.6 | AR | |
TOR1AIP1 | 1755 | NM_001267578.2 | AR | |
TPM3 | 858 | NM_152263.4 | AD, AR | |
TRPV4 | 2616 | NM_021625.5 | AD | |
VAMP1 | 357 | NM_014231.5 | AR |
Infos zur Erkrankung
Klinischer Kommentar
Gruppe von Erkrankungen: neuromuskuläre Erkrankungen sind häufig Ursache für Arthrogrypose + die häufigste Ursache für schwere Arthrogrypose
Synonyme
- Allelic: Bethlem myopathy 1 (COL6A1, COL6A2, COL6A3)
- Allelic: Bethlem myopathy 2 (COL12A1)
- Allelic: CAP myopathy 1 (TPM3)
- Allelic: CAP myopathy 2 (TPM2)
- Allelic: Cardiomyopathy, dilated, 1S (MYH7)
- Allelic: Cardiomyopathy, familial hypertrophic, 9 (TTN)
- Allelic: Cardiomyopathy, hypertrophic, 1 (MYH7)
- Allelic: Central core disease (RYR1)
- Allelic: Charcot-Marie-Tooth disease, axonal type 2M (DNM2)
- Allelic: Charcot-Marie-Tooth disease, axonal, type 20 (DYNC1H1)
- Allelic: Charcot-Marie-Tooth disease, dominant intermediate B (DNM2)
- Allelic: Congenital disorder of glycosylation, type Id (ALG3)
- Allelic: Congenital disorder of glycosylation, type Ij (DPAGT1)
- Allelic: Congenital myopathy (TPM2)
- Allelic: Dystonia 27 (COL6A3)
- Allelic: Dystonia-1, modifier of (TOR1A)
- Allelic: Dystonia-1, torsion (TOR1A)
- Allelic: Hyperkalemic periodic paralysis, type 2 (SCN4A)
- Allelic: Hypokalemic periodic paralysis, type 2 (SCN4A)
- Allelic: Immunodeficiency 10 (STIM1)
- Allelic: Immunodeficiency 9 (ORAI1)
- Allelic: King-Denborough syndrome (RYR1)
- Allelic: Laing distal myopathy (MYH7)
- Allelic: Left ventricular noncompaction 5 (MYH7)
- Allelic: Malignant hyperthermia susceptibility 1 (RYR1)
- Allelic: Mental retardation, AD 13 (DYNC1H1)
- Allelic: Minicore myopathy with external ophthalmoplegia (RYR1)
- Allelic: Musc. dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (GMPPB)
- Allelic: Musc. dystrophy-dystroglycanopathy (limb-girdle), type C, 9 (DAG1)
- Allelic: Musc. dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 14 (GMPPB)
- Allelic: Musc. dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 9 (DAG1)
- Allelic: Musc. dystrophy-dystroglycanopathy, cong. with mental retardation, type B, 14 (GMPPB)
- Allelic: Muscular dystrophy, limb-girdle, AR 10 (TTN)
- Allelic: Myasthenic syndrome, cong., 10 (DOK7)
- Allelic: Myasthenic syndrome, cong., 11, ass. with acetylcholine receptor deficiency (RAPSN)
- Allelic: Myasthenic syndrome, cong., 13, with tubular aggregates (DPAGT1)
- Allelic: Myasthenic syndrome, cong., 16 (SCN4A)
- Allelic: Myasthenic syndrome, cong., 1A, slow-channel (CHRNA1)
- Allelic: Myasthenic syndrome, cong., 1B, fast-channel (CHRNA1)
- Allelic: Myasthenic syndrome, cong., 20, presynaptic (SLC5A7)
- Allelic: Myasthenic syndrome, cong., 25 (VAMP1)
- Allelic: Myasthenic syndrome, cong., 2C, ass. with acetylcholine receptor deficiency (CHRNB1)
- Allelic: Myasthenic syndrome, cong., 3B, fast-channel (CHRND)
- Allelic: Myasthenic syndrome, cong., 3C, ass. with acetylcholine receptor deficiency (CHRND)
- Allelic: Myasthenic syndrome, cong., 4A, slow-channel (CHRNE)
- Allelic: Myasthenic syndrome, cong., 4B, fast-channel (CHRNE)
- Allelic: Myasthenic syndrome, cong., 4C, ass. with acetylcholine receptor deficiency (CHRNE)
- Allelic: Myasthenic syndrome, cong., 5 (COLQ)
- Allelic: Myasthenic syndrome, cong., 6, presynaptic (CHAT)
- Allelic: Myasthenic syndrome, cong., 9, ass. with acetylcholine receptor deficiency (MUSK)
- Allelic: Myasthenic syndrome, congenital, 25 (VAMP1)
- Allelic: Myopathy, actin, congenital, with cores (ACTA1)
- Allelic: Myopathy, actin, congenital, with excess of thin myofilaments (ACTA1)
- Allelic: Myopathy, congenital, Baily-Bloch (STAC3)
- Allelic: Myopathy, congenital, with fast-twitch (type II) fiber atrophy (MYL1)
- Allelic: Myopathy, congenital, with fiber-type disproportion (TPM3)
- Allelic: Myopathy, congenital, with fiber-type disproportion 1 (ACTA1)
- Allelic: Myopathy, congenital, with tremor (MYBPC1)
- Allelic: Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
- Allelic: Myopathy, myosin storage, AD/AR (MYH7)
- Allelic: Myopathy, scapulohumeroperoneal (ACTA1)
- Allelic: Myopathy, tubular aggregate, 1 (STIM1)
- Allelic: Myopathy, tubular aggregate, 2 (ORAI1)
- Allelic: Myosclerosis, congenital (COL6A2)
- Allelic: Myotonia congenita, atypical, acetazolamide-responsive (SCN4A)
- Allelic: Nemaline myopathy 1, AD/AR (TPM3)
- Allelic: Nemaline myopathy 10 (LMOD3)
- Allelic: Nemaline myopathy 2, AR (NEB)
- Allelic: Nemaline myopathy 3, AD/AR (ACTA1)
- Allelic: Nemaline myopathy 4, AD (TPM2)
- Allelic: Neuromuscular disease, congenital, with uniform type 1 fiber (RYR1)
- Allelic: Neuronopathy, distal hereditary motor, type VIIA (SLC5A7)
- Allelic: Paramyotonia congenita (SCN4A)
- Allelic: Proximal myopathy + ophthalmoplegia (MYH2)
- Allelic: Salih myopathy (TTN)
- Allelic: Scapuloperoneal syndrome, myopathic type (MYH7)
- Allelic: Spastic ataxia 1, AD (VAMP1)
- Allelic: Spinal muscular atrophy, lower extremity-predominant 1, AD (DYNC1H1)
- Allelic: Stormorken syndrome (STIM1)
- Allelic: Tibial muscular dystrophy, tardive (TTN)
- Allelic: Ullrich congenital muscular dystrophy 1 (COL6A1, COL6A2, COL6A3)
- Allelic: Ullrich congenital muscular dystrophy 2 (COL12A1)
- Alkuraya-Kucinskas syndrome (KIAA1109)
- Allelic: Myasthenic syndrome, cong., 3A, slow-channel (CHRND)
- Arthrogryposis multiplex congenita (MYH3, TNNI2, TPM2)
- Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect (LGI1)
- Arthrogryposis multiplex congenita 5 (TOR1A)
- Arthrogryposis multiplex congenita 5 (TOR1A)
- Arthrogryposis multiplex congenita, distal, type 1 (TPM2)
- 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 (ECEL1)
- Arthrogryposis, distal, with impaired proprioception + touch (PIEZO2)
- Arthrogryposis, renal dysfunction + cholestasis 1 (VPS33B)
- Carey-Fineman-Ziter syndrome (MYMK)
- Carney complex variant (MYH8)
- Cold-induced sweating syndrome 1 (CRLF1)
- Congenital disorder of glycosylation, type Ij (DPAGT1)
- Congenital myasthenic syndrome (CHRNA1, CHRNB1, RAPSN, VAMP1)
- Congenital myopathy (MYL1)
- Contractures, pterygia + spondylocarpotarsal fusion syndrome 1A + 1B (MYH3)
- Distal arthrogryposis multiplex congenita (TNNI2)
- Distal arthrogryposis multiplex congenita; Distal arthrogryposis type 1, 2B (TNNT3)
- Distal arthrogryposis type 1 (TNNT3)
- Dystonia-1, torsion (TOR1A)
- Ehlers-Danlos syndrome, musculocontractural type 1 (CHST14)
- Escobar syndrome [multiple pterygium syndrome, nonlethal type] (CHRNG)
- Fetal akinesia deformation sequence 1 (MUSK)
- Fetal akinesia deformation sequence 2 (RAPSN)
- Fetal akinesia deformation sequence 3 (DOK7)
- Hereditary motor + sensory neuropathy, type IIc (TRPV4)
- Lethal congenital contracture syndrome 4 (MYBPC1)
- Marden-Walker syndrome (PIEZO2)
- Multiple pterygium syndrome, lethal type (CHRNA1, CHRND, CHRNG)
- Multiple pterygium syndrome, lethal type (CHRND, CHRNG)
- Muscular dystrophy, congenital, merosin deficient or partially deficient (LAMA2)
- Muscular dystrophy, limb-girdle, AR 23 (LAMA2)
- Muscular dystrophy, rigid spine, 1 (SELENON)
- Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 10 (RXYLT1/TMEM5)
- Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 12 (POMK)
- Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 13 (B4GAT1)
- Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 2 (POMT2)
- Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 3 (POMGNT1)
- Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 4 (FKTN)
- Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 5 (FKRP)
- Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 6 (LARGE1)
- Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 7 (CRPPA/ISPD)
- Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies, type A, 11 (B3GALNT2)
- Muscular dystrophy-dystroglycanopathy (cong. with mental retardation), type B, 2 (POMT2)
- Muscular dystrophy-dystroglycanopathy (cong. with mental retardation), type B, 3 (POMGNT1)
- Muscular dystrophy-dystroglycanopathy (cong. with mental retardation), type B, 6 (LARGE1)
- Muscular dystrophy-dystroglycanopathy (cong. with/-out mental retardation), type B, 5 (FKRP)
- Muscular dystrophy-dystroglycanopathy (cong. without mental retardation), type B, 4 (FKTN)
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 (POMT2)
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 (POMGNT1)
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 (FKTN)
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 (FKRP)
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 (CRPPA/ISPD)
- Myasthenia, limb-girdle, familial; Fetal akinesia deformation sequence (DOK7)
- Myasthenic syndrome, congenital, 3A-C (CHRND), 4A-C (CHRNE)
- Myasthenic syndrome, congenital, assoc. with acetylcholine receptor deficiency (RAPSN)
- Myasthenic syndrome, congenital, with tubular aggregates 2 (DPAGT1)
- Myopathy, congenital, Baily-Bloch (STAC3)
- Myopathy, congenital, with fiber-type disproportion (SELENON)
- Myopathy, congenital, with fiber-type disproportion (TMP3)
- Myopathy, tubular aggregate, 1 (ORAI1)
- Myopathy, tubular aggregate, Stormorken syndrome (STIM1)
- Myotubular myopathy, XL (MTM1)
- Nemaline myopathy 5, Amish type (TNNT1)
- Nemaline myopathy 8, AR (KLHL40)
- Neuronopathy, distal hereditary motor, type VIII (TRPV4)
- PERCHING syndrome (KLHL7)
- Presynaptic congenital myasthenic syndrome (VAMP1)
- Spinal muscular atrophy 1-4 (SMN1)
- Spinal muscular atrophy with congenital bone fractures 2 (ASCC1)
- Spinal muscular atrophy, XL 2, infantile (UBA1)
- Spinal muscular atrophy, lower extremity-predominant, 2A, AD (BICD2)
- Spinal muscular atrophy, lower extremity-predominant, 2B, AD (BICD2)
- Wieacker-Wolff syndrome (ZC4H2)
- Wieacker-Wolff syndrome, female-restricted (ZC4H2)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q74.3
Bioinformatik und klinische Interpretation
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