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Klinische FragestellungWT1-Erkrankung; DD kongenitale Zwerchfell-Hernien

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für WT1-Erkrankung [DD kongenitale Zwerchfell-Hernien] mit zusammen genommen 48 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
WP0041
Anzahl Gene
46 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
1,6 kb (Core-/Core-canditate-Gene)
166,8 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
WT11569NM_024426.6AD, SMu
ARID1A6858NM_006015.6AD
ARID1B6750NM_001374820.1AD
CDKN1C951NM_000076.2AD, Sus
CHD78994NM_017780.4AD
COL3A14401NM_000090.4AD, AR
COX7B243NM_001866.3XL
DLL31857NM_016941.4AR
EFNB11041NM_004429.5XL
FBN18616NM_000138.5AD
FGFR22466NM_000141.5AD
FRAS112039NM_025074.7AR
FREM29510NM_207361.6AR
GATA41329NM_002052.5AD
GATA61788NM_005257.6AD
GPC31743NM_004484.4XLR
HCCS807NM_005333.5XL
HDAC81134NM_018486.3XL
HES7678NM_032580.4AR
KDM6A4206NM_021140.4XL
KMT2D16614NM_003482.4AD
LFNG1140NM_001040167.2AR
LRP213968NM_004525.3AR
LTBP44763NM_003573.2AR
MESP21194NM_001039958.2AR
MYRF3506NM_001127392.3AD
NDUFB11462NM_001135998.3XL
NIPBL8415NM_133433.4AD
NR2F21245NM_021005.4AD
PIGN2796NM_176787.5AR
POGZ4233NM_015100.4AD
PORCN1386NM_203475.3XL
RAD211896NM_006265.3AD
RARB1347NM_000965.5AD, AR
RIPPLY2391NM_001009994.2Ass
RLIM1875NM_016120.4XL
SLC2A101626NM_030777.4AR
SMARCA45040NM_001128849.3AD
SMARCB11158NM_003073.5AD
SMARCE11236NM_003079.5AD
SMC1A3702NM_006306.4XL
SMC33654NM_005445.4AD
SOX111326NM_003108.4AD
STRA62004NM_001142617.2AR
TBX61311NM_004608.4AD, AR
ZFPM23456NM_012082.4AD

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
  • AR
  • Ass
  • SMu
  • Sus
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q87.8

Bioinformatik und klinische Interpretation

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