ErkrankungZwerchfellhernien, kongenital, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Zwerchfellhernien, kongenital, mit 7 bzw. zusammen genommen 57 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
ZP3999
Anzahl Gene
57
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
18,5 kb (Core-/Basis-Gene)
208,5 kb (Erweitertes Panel)
208,5 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
[Sanger]
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
GATA4 | 1329 | AD | |
GATA6 | 1788 | AD | |
MYH10 | 6097 | AD | |
MYOD1 | 963 | AR | |
MYRF | 3506 | AD | |
RARB | 1347 | AD und/oder AR | |
ZFPM2 | 3456 | AD | |
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 | |
FREM1 | 6540 | AD und/oder AR | |
FREM2 | 9510 | AR | |
GLI3 | 4743 | 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 | |
KIF7 | 4032 | AR und/oder Dig | |
KMT2D | 16614 | AD und/oder SMu und/oder Sus und/oder Impr | |
LFNG | 1140 | AR | |
LRP2 | 13968 | AR | |
LTBP4 | 4763 | AR | |
MESP2 | 1194 | AR | |
MID1 | 2004 | XLR | |
MTM1 | 1812 | XLR | |
NDST1 | 2649 | AR | |
NDUFB11 | 462 | XL und/oder XLD | |
NIPBL | 8415 | AD und/oder Impr | |
NR2F2 | 1245 | AD | |
OCRL | 2706 | XLR | |
PBX1 | 1293 | AD | |
PIGN | 2796 | AR | |
POGZ | 4233 | AD | |
PORCN | 1386 | XLD | |
RAD21 | 1896 | AD und/oder AR und/oder SMu und/oder Impr | |
RLIM | 1875 | XL | |
ROBO1 | 4656 | AD | |
SLC2A10 | 1626 | AR | |
SLIT3 | 4593 | ||
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 | |
WT1 | 1569 | AD und/oder Dig und/oder SMu und/oder Sus |
Infos zur Erkrankung
Klinischer Kommentar
Defekt während der Embryogenese, der nicht-syndromisch (70%) oder syndromisch (30%) sein kann, mit posterolateralem Zwerchfelldefekt, der die Passage der abdominalen Eingeweide in den Thorax erlaubt und zu respiratorischer Insuffizienz + persistierender pulmonaler Hypertonie führt
Synonyme
- Apert syndrome (FGFR2)
- Arterial tortuosity syndrome (SL2A10)
- Beckwith-Wiedemann syndrome (imprinting defect at 11p15.5; CDKN1C)
- CHARGE syndrome (CHD7)
- Cardiac-urogenital syndrome (MYRF)
- Coffin-Siris syndrome (ARID1A, ARID1B, SMARCA4, SMARCB1, SMARCE1, SOX11)
- Congenital diaphragmatic hernia + heart defects (GATA4)
- Congenital heart defects, multiple types, 4 (NR2F2)
- Cornelia de Lange syndrome (NIPBL, RAD21, SMC3, HDAC8, SMC1A)
- Craniofrontonasal syndrome (EFNB1)
- Denys-Drash syndrome (WT1)
- Diaphragmatic hernia type 3 (ZFPM2)
- Donnai-Barrow syndrome (LRP2)
- Focal dermal hypoplasia (PORCN)
- Fraser syndrome (FRAS1, FREM2)
- Heart defects, congenital & other congenital anomalies (GATA6)
- Kabuki syndrome (KMT2D, KDM6A)
- LTBP4-related cutis laxa (LTBP4)
- Marfan syndrome (FBN1)
- Meacham syndrome (WT1)
- Microphthalmia with linear skin defects syndrome (COX7B, HCCS, NDUFB11)
- Microphthalmia, syndromic (RARB, STRA6)
- Multiple congenital anomalies-hypotonia-seizures syndrome (PIGN)
- Simpson-Golabi-Behmel syndrome type 1 (GPC3)
- Spondylocostal dysostosis (DLL3, HES7, LFNG, MESP2, RIPPLY2, TBX6)
- Tonne-Kalscheuer syndrome (RLIM)
- Vascular Ehlers-Danlos syndrome (COL3A1)
- White-Sutton syndrome (POGZ)
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 Dig
- XL
- XL und/oder XLD
- XLD
- XLD und/oder Impr
- XLR
- XLR und/oder SMu und/oder Sus
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q79.0
Bioinformatik und klinische Interpretation
Kein Text hinterlegt