English
Klinische FragestellungFraser-Syndrom, Differentialdiagnose
Zusammenfassung
Kurzinformation
Ein umfassendes panel mit 3 "core"-Gegen bzw. insgesamt 13 Genen zur Differentialdiagnostik des Fraser-Syndroms gemäß der klinischen Symptomatik
ID
FP9266
Anzahl Gene
9
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
24,8 kb (Core-/Core-canditate-Gene)
31,3 kb (Erweitertes Panel: inkl. additional genes)
31,3 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| FRAS1 | 12039 | NM_025074.7 | AR | |
| FREM2 | 9510 | NM_207361.6 | AR | |
| GRIP1 | 3231 | NM_021150.4 | AR | |
| ALX1 | 981 | NM_006982.3 | AR | |
| ALX3 | 1032 | NM_006492.3 | AR | |
| ALX4 | 1236 | NM_021926.4 | AR | |
| EFNB1 | 1041 | NM_004429.5 | XL | |
| MKS1 | 1680 | NM_017777.4 | AR | |
| TWIST2 | 483 | NM_001271893.4 | AD, AR |
Infos zur Erkrankung
Synonyme
- Alias: Cryptophthalmos syndrome
- Alias: Cryptophthalmos with other malformations
- Alias: Cryptophthalmos-syndactyly syndrome
- Alias: Fraser-Francois syndrome
- Alias: Meyer-Schwickerath syndrome
- Alias: Ullrich-Feichtiger syndrome
- Allelic: Barber-Say syndrome (TWIST2)
- Allelic: Craniosynostosis 5, susceptibility to (ALX4)
- Allelic: Focal facial dermal dysplasia 3, Setleis type (TWIST2)
- Allelic: Optic nerve hypoplasia + abnormalities of the central nervous system (SOX2)
- Allelic: Parietal foramina 2 (ALX4)
- Ablepharon-macrostomia syndrome (TWIST2)
- Craniofrontonasal dysplasia (EFNB1)
- Cryptophthalmos, unilateral or bilateral, isolated (FREM2)
- Donnai-Barrow syndrome (LRP2)
- Fraser syndrome 1 (FRAS1)
- Fraser syndrome 2 (FREM2)
- Fraser syndrome 3 (GRIP1)
- Frontonasal dysplasia 1 (ALX2)
- Frontonasal dysplasia 2 (ALX4)
- Frontonasal dysplasia 3 (ALX1)
- Hardikar syndrome (MED12)
- Lujan-Fryns syndrome (MED12)
- Meckel syndrome 1 (MKS1)
- Microphthalmia, syndromic 3 (SOX2)
- Microphthalmia, syndromic 3 (TWIST2)
- Ohdo syndrome, XL (MED12)
- Opitz-Kaveggia syndrome (MED12)
- Townes-Brocks branchiootorenal-like syndrome (SALL1)
- Townes-Brocks syndrome 1 (SALL1)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
- XL
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q89.8
Bioinformatik und klinische Interpretation
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