English
Klinische FragestellungRoberts-Syndrom, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Roberts-Syndrom, DIfferentialdiagnose, mit mit 1 "core"-Gen und zusammen genommen 23 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
RP9251
Anzahl Gene
22
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
1,9 kb (Core-/Core-canditate-Gene)
64,2 kb (Erweitertes Panel: inkl. additional genes)
64,2 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| ESCO2 | 1806 | NM_001017420.3 | AR | |
| BRCA2 | 10257 | NM_000059.4 | AR | |
| BRIP1 | 3750 | NM_032043.3 | AR | |
| BUB1B | 3153 | NM_001211.6 | AR | |
| CEP57 | 1476 | NM_001243776.2 | AR | |
| FANCA | 4368 | NM_000135.4 | AR | |
| FANCB | 2580 | NM_001018113.3 | XL | |
| FANCC | 1677 | NM_000136.3 | AR | |
| FANCE | 1611 | NM_021922.3 | AR | |
| FANCF | 1125 | NM_022725.4 | AR | |
| FANCG | 1869 | NM_004629.2 | AR | |
| FANCI | 3987 | NM_001113378.2 | AR | |
| HDAC8 | 1134 | NM_018486.3 | XL | |
| NIPBL | 8415 | NM_133433.4 | AD | |
| RAD21 | 1896 | NM_006265.3 | AD, AR | |
| RBM8A | 525 | NM_005105.5 | AR | |
| RECQL4 | 3628 | NM_004260.4 | AR | |
| SMC1A | 3702 | NM_006306.4 | XL | |
| SMC3 | 3654 | NM_005445.4 | AD | |
| TBX5 | 1557 | NM_000192.3 | AD | |
| TRIP13 | 870 | NM_001166260.2 | AR | |
| WNT3 | 1068 | NM_030753.5 | AR |
Infos zur Erkrankung
Synonyme
- Alias: ESCO2 Spectrum Disorder
- Alias: Roberts-SC-Phokomelie-Syndrom
- Alias: SC phocomelia syndrome
- Allelic: Breast cancer, early-onset, susceptibility to (BRIP1)
- Allelic: Breast-ovarian cancer, familial, 2 (BRCA2)
- Allelic: Colorectal cancer, somatic (BUB1B)
- Allelic: Oocyte maturation defect 9 (TRIP13)
- Allelic: Wilms tumor (BRCA2)
- Baller-Gerold syndrome (RECQL4)
- 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)
- Developmental + epileptic encephalopathy 85, with/-out midline brain defects (SMC1A)
- Fanconi anemia, complementation group A (FANCA)
- Fanconi anemia, complementation group B (FANCB)
- Fanconi anemia, complementation group C (FANCC)
- Fanconi anemia, complementation group D1 (BRCA2)
- Fanconi anemia, complementation group D2 (FANCD2)
- Fanconi anemia, complementation group E (FANCE)
- Fanconi anemia, complementation group F (FANCF)
- Fanconi anemia, complementation group G (FANCG)
- Fanconi anemia, complementation group I (FANCI)
- Fanconi anemia, complementation group J (BRIP1)
- Holt-Oram syndrome (TBX5)
- Juberg-Hayward syndrome (ESCOO2)
- Mosaic variegated aneuploidy syndrome 1 (BUB1B)
- Mosaic variegated aneuploidy syndrome 2 (CEP57)
- Mosaic variegated aneuploidy syndrome 3 (TRIP13)
- Mungan syndrome (RAD21)
- Premature chromatid separation trait (BUB1B)
- RAPADILINO syndrome (RECQL4)
- Roberts-SC phocomelia syndrome (ESCO2)
- Rothmund-Thomson syndrome, type 2 (RECQL4)
- Tetra-amelia syndrome 1 (WNT3)
- Thrombocytopenia-absent radius syndrome (RBM8A)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
- XL
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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