ErkrankungWT1-Erkrankung; DD kongenitale Zwerchfell-Hernien
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für WT1-Erkrankung [DD kongenitale Zwerchfell-Hernien] mit zusammen genommen 64 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
WP0041
Anzahl Gene
46
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
1,6 kb (Core-/Basis-Gene)
166,8 kb (Erweitertes Panel)
166,8 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
WT1 | 1569 | AD und/oder Dig und/oder SMu und/oder Sus | |
ARID1A | 6858 | AD und/oder SMu und/oder Sus und/oder Impr | |
ARID1B | 6750 | AD und/oder SMu und/oder Impr | |
CDKN1C | 951 | AD und/oder Sus | |
CHD7 | 8994 | AD und/oder Impr | |
COL3A1 | 4401 | AD und/oder AR und/oder Mult | |
COX7B | 243 | XLD | |
DLL3 | 1857 | AR | |
EFNB1 | 1041 | XLD | |
FBN1 | 8616 | AD und/oder Mult | |
FGFR2 | 2466 | AD und/oder Sus | |
FRAS1 | 12039 | AR | |
FREM2 | 9510 | AR | |
GATA4 | 1329 | AD | |
GATA6 | 1788 | AD | |
GPC3 | 1743 | XLR und/oder SMu und/oder Sus | |
HCCS | 807 | XLD | |
HDAC8 | 1134 | XLD | |
HES7 | 678 | AR | |
KDM6A | 4206 | XLD und/oder Impr | |
KMT2D | 16614 | AD und/oder SMu und/oder Sus und/oder Impr | |
LFNG | 1140 | AR | |
LRP2 | 13968 | AR | |
LTBP4 | 4763 | AR | |
MESP2 | 1194 | AR | |
MYRF | 3506 | AD | |
NDUFB11 | 462 | XL und/oder XLD | |
NIPBL | 8415 | AD und/oder Impr | |
NR2F2 | 1245 | AD | |
PIGN | 2796 | AR | |
POGZ | 4233 | AD | |
PORCN | 1386 | XLD | |
RAD21 | 1896 | AD und/oder AR und/oder SMu und/oder Impr | |
RARB | 1347 | AD und/oder AR | |
RIPPLY2 | 391 | AR und/oder Ass | |
RLIM | 1875 | XL | |
SLC2A10 | 1626 | AR | |
SMARCA4 | 5040 | AD und/oder SMu und/oder Impr | |
SMARCB1 | 1158 | AD und/oder SMu und/oder Sus und/oder Impr | |
SMARCE1 | 1236 | AD | |
SMC1A | 3702 | XLD und/oder Impr | |
SMC3 | 3654 | AD und/oder SMu und/oder Impr | |
SOX11 | 1326 | AD und/oder Impr | |
STRA6 | 2004 | AR | |
TBX6 | 1311 | AD und/oder AR | |
ZFPM2 | 3456 | AD |
Infos zur Erkrankung
Synonyme
- Wilms tumor, type 1 (WT1)
- Denys-Drash syndrome (WT1)
- Frasier syndrome (WT1)
- Meacham syndrome (WT1)
- Mesothelioma, somatic (WT1)
- Nephrotic syndrome, type 4 (WT1)
- 46XX sex reversal 5 (NR2F2)
- 46XY sex reversal 9 (ZFPM2)
- Allelic: Atrial septal defect 2 (GATA4)
- Allelic: Atrioventricular septal defect 4 (GATA4)
- Allelic: Cryptophthalmos, unilateral or bilateral, isolated (FREM2)
- Allelic: Encephalitis/encephalopathy, mild, with reversible myelin vacuolization (MYRF)
- Allelic: Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
- Allelic: Meningioma, familial, susceptibility to (SMARCE1)
- Allelic: Mitochondrial complex I deficiency, nuclear type 30 (NDUFB11)
- Allelic: Pancreatic agenesis + congenital heart defects (GATA6)
- Allelic: Persistent truncus arteriosus (GATA6)
- Allelic: Polymicrogyria with/-out vascular-type EDS (COL3A1)
- Allelic: Testicular anomalies with/-out congenital heart disease (GATA4)
- Allelic: Ventricular septal defect 1 (GATA4)
- Apert syndrome (FGFR2)
- Arterial tortuosity syndrome (SLC2A10)
- Beckwith-Wiedemann syndrome (CDKN1C)
- CHARGE syndrome [Coloboma, Heart anomaly, choanal Atresia, Retardation, Genital + Ear anmal.] (CHD7)
- Cardiac-urogenital syndrome (MYRF)
- Coffin-Siris syndrome 1 (ARID1B)
- Coffin-Siris syndrome 2 (ARID1A)
- Coffin-Siris syndrome 3 (SMARCB1)
- Coffin-Siris syndrome 4 (SMARCA4)
- Coffin-Siris syndrome 5 (SMARCE1)
- Coffin-Siris syndrome 9 (SOX11)
- Congenital heart defects, multiple types, 4 (NR2F2)
- Cornelia de Lange syndrome 1 (NIPBL)
- Cornelia de Lange syndrome 2 (SMC1A)
- Cornelia de Lange syndrome 3 (SMC3)
- Cornelia de Lange syndrome 4 (RAD21)
- Cornelia de Lange syndrome 5 (HDAC8)
- Craniofrontonasal dysplasia (EFNB1)
- Cutis laxa, AR, type IC (LTBP4)
- Developmental + epileptic encephalopathy 85, with/-out midline brain defects (SMC1A)
- Diaphragmatic hernia 3 (ZFPM2)
- Donnai-Barrow syndrome (LRP2)
- Ehlers-Danlos syndrome, vascular type (COL3A1)
- Focal dermal hypoplasia (PORCN)
- Fraser syndrome 1 (FRAS1)
- Fraser syndrome 2 (FREM2)
- IMAGE syndrome (CDKN1C)
- Kabuki syndrome 1 (KMT2D)
- Kabuki syndrome 2 (KDM6A)
- Linear skin defects with multiple congenital anomalies (HCCS)
- Linear skin defects with multiple congenital anomalies 2 (COX7B)
- Linear skin defects with multiple congenital anomalies 3 (NDUFB11)
- MASS syndrome (FBN1)
- Marfan syndrome (FBN1)
- Microphthalmia, syndromic 12 (RARB)
- Microphthalmia, syndromic 9 (STRA6)
- Multiple congenital anomalies-hypotonia-seizures syndrome 1 (PIGN)
- Mungan syndrome (RAD21)
- Rhabdoid tumor predisposition syndrome 1 (SMARCB1)
- Rhabdoid tumor predisposition syndrome 2 (SMARCA4)
- Rhabdoid tumors, somatic (SMARCB1)
- Simpson-Golabi-Behmel syndrome, type 1 (GPC3)
- 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)
- Tetralogy of Fallot (GATA4)
- Tetralogy of Fallot (GATA6)
- Tetralogy of Fallot (ZFPM2)
- Tonne-Kalscheuer syndrome [multiple congenital anomalies + global developmental delay] (RLIM)
- White-Sutton syndrome [delayed psychomotor development + dysmorphic face] (POGZ)
- Wilms tumor, somatic (GPC3)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AD und/oder AR und/oder Mult
- AD und/oder AR und/oder SMu und/oder Impr
- AD und/oder Dig und/oder SMu und/oder Sus
- AD und/oder Impr
- AD und/oder Mult
- AD und/oder SMu und/oder Impr
- AD und/oder SMu und/oder Sus und/oder Impr
- AD und/oder Sus
- AR
- AR und/oder Ass
- XL
- XL und/oder XLD
- XLD
- XLD und/oder Impr
- XLR und/oder SMu und/oder Sus
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q87.8
Bioinformatik und klinische Interpretation
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