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IllnessPena-Shokeir syndrome I, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Pena-Shokeir syndrome I containing 4 core candidate genes and altogether 51 curated genes according to the clinical signs
ID
PP0390
Number of loci
| Locus type | Count |
|---|---|
| Gen | 47 |
Examined sequence length
7,7 kb (Core-/Core-canditate-Genes)
158,3 kb (Extended panel: incl. additional genes)
158,3 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
[Sanger]
Loci
Gen
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| DOK7 | 1515 | NM_173660.5 | AR | |
| MUSK | 2610 | NM_005592.4 | AR | |
| NUP88 | 2291 | NM_002532.6 | AR | |
| RAPSN | 1239 | NM_005055.5 | AR | |
| ACTA1 | 1134 | NM_001100.4 | AD, AR | |
| BICD2 | 2568 | NM_001003800.2 | AD, AR | |
| BIN1 | 1782 | NM_139343.3 | AR | |
| CHAT | 2247 | NM_020549.5 | AR | |
| 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 | |
| CHRNG | 1554 | NM_005199.5 | AR | |
| CNTN1 | 3057 | NM_001843.4 | AR | |
| COLQ | 1368 | NM_005677.4 | AR | |
| DMPK | 1920 | NM_001081563.2 | AD | |
| DPAGT1 | 1227 | NM_001382.4 | AR | |
| ECEL1 | 2328 | NM_004826.4 | AR | |
| EGR2 | 1431 | NM_000399.5 | AD, AR | |
| ERBB3 | 4029 | NM_001982.4 | AR | |
| FGFR2 | 2466 | NM_000141.5 | AD | |
| FKRP | 1488 | NM_024301.5 | AR | |
| FOXP3 | 1296 | NM_014009.4 | XLR | |
| GBE1 | 2109 | NM_000158.4 | AR | |
| GLE1 | 2097 | NM_001003722.2 | AR | |
| KLHL40 | 1866 | NM_152393.4 | AR | |
| LMNA | 1995 | NM_170707.4 | AD | |
| MPZ | 747 | NM_000530.8 | AD | |
| MTM1 | 1812 | NM_000252.3 | XL | |
| MYBPC1 | 3516 | NM_002465.4 | AD, AR | |
| MYH3 | 5823 | NM_002470.4 | AD | |
| MYH8 | 5814 | NM_002472.3 | AD | |
| MYOD1 | 963 | NM_002478.5 | AR | |
| NALCN | 5217 | NM_052867.4 | AD, AR | |
| NEB | 25683 | NM_001271208.2 | AR | |
| PDHA1 | 1173 | NM_000284.4 | XL | |
| PIP5K1C | 2007 | NM_012398.3 | AR | |
| RYR1 | 15117 | NM_000540.3 | AR | |
| SCN4A | 5511 | NM_000334.4 | AR, AD | |
| SLC5A7 | 1743 | NM_021815.5 | AR | |
| SYNE1 | 26250 | NM_033071.4 | AD, AR | |
| TNNI2 | 549 | NM_003282.4 | AD | |
| TNNT3 | 777 | NM_006757.4 | AD | |
| TPM2 | 855 | NM_003289.4 | AD | |
| TUBB2B | 1338 | NM_178012.5 | AD | |
| VAMP1 | 357 | NM_014231.5 | AR | |
| ZMPSTE24 | 1428 | NM_005857.5 | AR |
Informations about the disease
Clinical Comment
Multiple joint contractures, facial anomalies, pulmonary hypoplasia; common feature is decreased foetal activity
doi: 10.2147/TACG.S154643
Synonyms
- Alias: Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
- Allelic: Neuronopathy, distal hereditary motor, type VIIA (SLC5A7)
- Allelic: Spastic ataxia 1, AD (VAMP1)
- Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (FGFR2)
- Apert syndrome (FGFR2)
- Arthrogryposis multiplex congenita 3, myogenic type (SYNE1)
- Arthrogryposis multiplex congenita 6 (NEB)
- 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 5 (ECEL1)
- Beare-Stevenson cutis gyrata syndrome (FGFR2)
- Bent bone dysplasia syndrome (FGFR2)
- CAP myopathy 2 (TPM2)
- Carney complex variant (MYH8)
- Central core disease (RYR1)
- Centronuclear myopathy 2 (BIN1)
- Charcot-Marie-Tooth disease, type 1D (EGR2)
- Charcot-Marie-Tooth disease, type 2B1 (LMNA)
- Combined D-2- and L-2-hydroxyglutaric aciduria (SLC25A1)
- Congenital arthrogryposis with anterior horn cell disease (GLE1)
- Congenital contractures of the limbs + face, hypotonia + developmental delay (NALCN)
- Congenital disorder of glycosylation, type Ij (DPAGT1)
- Contractures, pterygia + spondylocarpotarsal fusion syndrome 1A (MYH3)
- Contractures, pterygia + spondylocarpotarsal fusion syndrome 1B
- Cortical dysplasia, complex, with other brain malformations (TUBB2B)
- Craniofacial-skeletal-dermatologic dysplasia (FGFR2)
- Crouzon syndrome (FGFR2)
- Dejerine-Sottas disease (EGR2)
- Dejerine-Sottas disease (MPZ)
- Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
- Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
- Emery-Dreifuss muscular dystrophy 4, AD (SYNE1)
- Escobar syndrome (CHRNG)
- Fetal akinesia deformation sequence 1 (MUSK)
- Fetal akinesia deformation sequence 2 (RAPSYN)
- Fetal akinesia deformation sequence 3 (DOK7)
- Fetal akinesia deformation sequence 4 (NUP88)
- Glycogen storage disease IV (GBE1)
- Hutchinson-Gilford progeria (LMNA)
- Hyperkalemic periodic paralysis, type 2 (SCN4A)
- Hypokalemic periodic paralysis, type 2 (SCN4A)
- Hypomyelinating neuropathy, congenital, 1 (EGR2)
- Hypomyelinating neuropathy, congenital, 2 (MPZ)
- Hypotonia, infantile, with psychomotor retardation + characteristic facies 1 (NALCN)
- Immunodysregulation, polyendocrinopathy + enteropathy, XL (FOXP3)
- Jackson-Weiss syndrome (FGFR2)
- King-Denborough syndrome (RYR1)
- LADD syndrome (FGFR2)
- Lethal congenital contractural syndrome 2 (ERBB3)
- Lethal congenital contractural syndrome 3 (PIP5K1C)
- Lethal congenital contracture syndrome (GLE1)
- Lethal congenital contracture syndrome 4 (MYBPC1)
- Malouf syndrome (LMNA)
- Mandibuloacral dysplasia with type B lipodystrophy (ZMPSTE24)
- Minicore myopathy with external ophthalmoplegia (RYR1)
- Multiple pterygium syndrome, lethal type (CHRNA1)
- Multiple pterygium syndrome, lethal type (CHRND)
- Multiple pterygium syndrome, lethal type (CHRNG)
- Muscular dystrophy, congenital (LMNA)
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 (FKRP)
- Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 5 (FKRP)
- Muscular dystrophy-dystroglycanopathy, cong. with/-out mental retardation, type B, 5 (FKRP)
- Myasthenic syndrome, congenital, 10 (DOK7)
- Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (RAPSYN)
- Myasthenic syndrome, congenital, 13, with tubular aggregates (DPAGT1)
- Myasthenic syndrome, congenital, 16 (SCN4A)
- Myasthenic syndrome, congenital, 19 (COL13A1)
- Myasthenic syndrome, congenital, 1A, slow-channel (CHRNA1)
- Myasthenic syndrome, congenital, 1B, fast-channel (CHRNA1)
- Myasthenic syndrome, congenital, 20, presynaptic (SLC5A7)
- Myasthenic syndrome, congenital, 21, presynaptic (SLC18A3)
- Myasthenic syndrome, congenital, 23, presynaptic (SLC25A1)
- Myasthenic syndrome, congenital, 25 (VAMP1)
- Myasthenic syndrome, congenital, 2A, slow-channel (CHRNB1)
- Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency (CHRNB1)
- Myasthenic syndrome, congenital, 3A, slow-channel (CHRND)
- Myasthenic syndrome, congenital, 3B, fast-channel (CHRND)
- Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency (CHRND)
- Myasthenic syndrome, congenital, 4A, slow-channel (CHRNE)
- Myasthenic syndrome, congenital, 4B, fast-channel (CHRNE)
- Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency (CHRNE)
- Myasthenic syndrome, congenital, 5 (COLQ)
- Myasthenic syndrome, congenital, 6, presynaptic (CHAT)
- Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects (AGRN)
- Myasthenic syndrome, congenital, 9, ass. w. acetylcholine receptor deficiency (MUSK)
- Myopathy, actin, congenital, with cores (ACTA1)
- Myopathy, actin, congenital, with excess of thin myofilaments (ACTA1)
- Myopathy, cong. with diaphragmatic defects, respiratory insufficiency + dysmorphic face (MYOD1)
- Myopathy, congenital, Compton-North (CNTN1)
- Myopathy, congenital, with fiber-type disproportion 1 (ACTA1)
- Myopathy, congenital, with tremor (MYNPC1)
- Myotonia congenita, atypical, acetazolamide-responsive (SCN4A)
- Myotonic dystrophy 1 (DMPK)
- Myotubular myopathy, XL (MTM1)
- Nemaline myopathy 2, AR (NEB)
- Nemaline myopathy 3, AD/AR (ACTA1)
- Nemaline myopathy 4, AD (TPM2)
- Nemaline myopathy 8, AR (KLHL40)
- Neuromuscular disease, congenital, with uniform type 1 fiber (RYR1)
- Paramyotonia congenita (SCN4A))
- Pfeiffer syndrome (FGFR2)
- Pyruvate dehydrogenase E1-alpha deficiency (PDHA1)
- Restrictive dermopathy, lethal (LMNA)
- Restrictive dermopathy, lethal (ZMPSTE24)
- Roussy-Levy syndrome (MPZ)
- Saethre-Chotzen syndrome (FGFR2)
- Spinal muscular atrophy, lower extremity-predominant, 2A, AD (BICD2)
- Spinal muscular atrophy, lower extremity-predominant, 2B, AD (BICD2)
- Spinocerebellar ataxia, AR 8 (SYNE1)
- Trismus-pseudocamptodactyly syndrome (MYH8)
- Visceral neuropathy, familial, 1, AR (ERBB3)
Heredity, heredity patterns etc.
- AD
- AR
- XL
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
Test-Stärken
- DAkkS-akkreditiertes Labor
- EU-Richtlinie für IVD in Umsetzung
- Qualitäts-kontrolliert arbeitendes Personal
- Leistungsstarke Sequenzierungstechnologien, fortschrittliche Target-Anreicherungsmethoden und Präzisions-Bioinformatik-Pipelines sorgen für überragende analytische Leistung
- Sorgfältige Kuratierung klinisch relevanter und wissenschaftlich begründeter Gen-Panels
- eine Vielzahl nicht Protein-kodierender Varianten, die in unseren klinischen NGS-Tests mit erfasst werden
- unser strenges Variantenklassifizierungsschema nach ACMG-Kriterien
- unser systematischer klinischer Interpretations-Workflow mit proprietärer Software ermöglicht die genaue und nachvollziehbare Verarbeitung von NGS-Daten
- unsere umfassenden klinischen Aussagen
Testeinschränkungen
- Gene mit eingeschränkter Abdeckung werden gekennzeichnet
- Gene mit kompletten oder partiellen Duplikationen werden gekennzeichnet
- es wird angenommen, dass ein Gen suboptimal abgedeckt ist, wenn >90% der Nukleotide des Gens bei einem Mapping-Qualitätsfaktor von >20 (MQ>20) nicht abgedeckt sind
- die Sensitivität der Diagnostik zur Erkennung von Varianten mit genannten Testeinschränkungen ist möglicherweise begrenzt bei:
- Gen-Konversionen
- komplexe Inversionen
- Balancierte Translokationen
- Mitochondriale Varianten
- Repeat-Expansionen, sofern nicht anders dokumentiert
- nicht kodierende Varianten, die Krankheiten verursachen, die von diesem Panel nicht mit abgedeckt werden
- niedriger Mosaik-Status
- Repeat-Blöcke von Mononukleotiden
- Indels >50bp (Insertionen-Deletionen)
- Deletionen oder Duplikationen einzelner Exons
- Varianten innerhalb von Pseudogenen
- die analytische Sensitivität kann geringer ausfallen werden, wenn die DNA nicht von amedes genetics extrahiert wurde
Laboratory requirement
Die in grün gezeigten Gene sind kuratiert und werden als Gen-Panel untersucht. Eine Erweiterung des Panels (blau gezeigte Gene, jeweils ebenfalls kuratiert) kann auf Anfrage erfolgen. Sofern unter "Erweitertes Panel" ein Minuszeichen angezeigt wird, sind nur Core-/Basis-Gene verfügbar.
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