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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessArthrogryposis, neuromuscular

Summary

Short information

A curated panel containing 20 or 72 genes for the comprehensive analysis of the known genetically caused neuromuscular forms of arthrogryposis

ID
AP9632
Number of genes
70 Accredited laboratory test
Examined sequence length
23,9 kb (Core-/Core-canditate-Genes)
201,6 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
ACTA11134AD, AR
CHRNA11374AD, AR
CHRNB11506AD, AR
CHRND1554AD, AR
CHRNG1554AR
DOK71515AR
DPAGT11227AR
ECEL12328AR
LMOD31683AR
MYL1585AR
ORAI1912n.k.
RAPSN1239AR
STAC31095AR
STIM12058AR
TNNI2549AD
TNNT3777AD
TPM2855AD
TPM3858AD
VAMP1357AD, AR
ZC4H2675XLR
ALG31173AR
ASCC11074AR
B3GALNT21503AR
B4GAT11248AR
BICD22568AD
BLTP115018AR
CHAT2247AR
CHRNE1482AD, AR
CHST141131AR
COL12A19192AD
COL6A13087AD
COL6A23060AD, AR
COL6A39534AR
COLQ1368AR
CRLF11269AR
CRPPA1356AR
DAG12688AR
DNM22613AR
DYNC1H113941AD
FKRP1488AR
FKTN1386AR
GMPPB1164AR
KLHL401866AR
KLHL71761AR
LAMA29369AR
LARGE12271AR
LGI41614AR
MTM11812XLR
MUSK2610AR
MYBPC13516AD, AR
MYH25826AD
MYH35823AD
MYH75808AD, AR
MYH85814AD
MYMK671AR
PIEZO28259AD
POMGNT11983AR
POMK1053AR
POMT22253AR
RXYLT11355AR
RYR115117AD
SCN4A5511AR
SELENON1773AR
SLC5A71743AR
SMN1885AR
TNNT1837AR
TOR1A999AD
TOR1AIP11755AD
TRPV42616AD
UBA13177SMu

Informations about the disease

Clinical Comment

Group of diseases: neuromuscular diseases are a common cause of arthrogryposis + the most common cause of severe arthrogryposis

 

Synonyms
  • Alkuraya-Kucinskas syndrome (KIAA1109)
  • 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., 3A, slow-channel (CHRND)
  • 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)
  • 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)
Heredity, heredity patterns etc.
  • AD
  • AR
  • SMu
  • XLR
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q74.3

Bioinformatics and clinical interpretation

No text defined