©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessWT1 disorder; DD congenital diaphragmatic hernia

Summary

Short information

Comprehensive differential diagnostic panel for WT1 disorder [DD congenital diaphragmatic hernia] containing 1 core candidate gene and altogether 48 curated genes according to the clinical signs

ID
WP0041
Number of loci
Locus typeCount
Gen 46
Accredited laboratory test
Examined sequence length
1,6 kb (Core-/Core-canditate-Genes)
166,8 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Loci

Gen

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
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

Informations about the disease

Synonyms
  • 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)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Ass
  • SMu
  • Sus
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined