English
Klinische FragestellungKraniofaziale Mikrosomie, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Kraniofaziale Mikrosomie, Differentialdiagnose, mit 8 "core candidate"-Genen bzw. insgesamt 21 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
CP3444
Anzahl Loci
| Locus-Typ | Anzahl |
|---|---|
| Gen | 21 |
Untersuchte Sequenzlänge
25,1 kb (Core-/Core-canditate-Gene)
48,6 kb (Erweitertes Panel: inkl. additional genes)
48,6 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
[Sanger]
Loci
Gen
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| CHD7 | 8994 | NM_017780.4 | AD | |
| DHODH | 1188 | NM_001361.5 | AR | |
| EYA1 | 1779 | NM_000503.6 | AD | |
| POLR1C | 1041 | NM_203290.4 | AR | |
| POLR1D | 402 | NM_015972.4 | AR, AD | |
| SALL1 | 3975 | NM_002968.3 | AD | |
| SALL4 | 3162 | NM_020436.5 | AD | |
| TCOF1 | 4467 | NM_001135243.2 | AD | |
| CHN1 | 1302 | NM_001025201.4 | AD | |
| EDNRA | 1284 | NM_001957.4 | AD | |
| EFTUD2 | 2919 | NM_004247.4 | AD | |
| GNAI3 | 1065 | NM_006496.4 | AD | |
| LMNA | 1995 | NM_170707.4 | n.k. | |
| MAFB | 972 | NM_005461.5 | AD | |
| MYT1 | 3366 | NM_004535.3 | AD | |
| PLCB4 | 3585 | NM_000933.4 | AD, AR | |
| SF3B4 | 1275 | NM_005850.5 | AD | |
| SIX1 | 855 | NM_005982.4 | AD | |
| SIX5 | 2220 | NM_175875.5 | AD | |
| TFAP2A | 1296 | NM_001032280.3 | AD | |
| ZMPSTE24 | 1428 | NM_005857.5 | AR |
Infos zur Erkrankung
Klinischer Kommentar
Gruppe von Erkrankungen: (Hemifaziale) Mikrosomie in Verbindung mit Ohr- und/oder Augenfehlbildungen von unterschiedlichem Schweregrad. Zusätzliche Missbildungen können assoziiert sein: Wirbel, Herz, Nieren, Zentralnervensystem, Verdauungs- und Skelettsystem
Synonyme
- Alias: Oculo-auriculo-vertebral spectrum
- Allelic: Anterior segment anomalies with/-out cataract (EYA1)
- Allelic: Branchiootic syndrome 3 (SIX1)
- Allelic: Deafness, autosomal dominant 23 (SIX1)
- Allelic: Hypogonadotropic hypogonadism 5 with or without anosmia (CHD7)
- Allelic: Leukodystrophy, hypomyelinating, 11 (POLR1C)
- Allelic: Migraine, resistance to (EDNRA)
- Allelic: Multicentric carpotarsal osteolysis syndrome (MAFB)
- Allelic: Restrictive dermopathy, lethal (ZMPSTE24)
- Allelic: Townes-Brocks syndrome 1 (SALL1)
- Acrofacial dysostosis (SF3B4)
- Auriculocondylar syndrome 1 (GNAI3)
- Auriculocondylar syndrome 2 (PLCB4)
- Branchiooculofacial syndrome (TFAP2A)
- Branchiootic syndrome (EYA1)
- Branchiootorenal syndrome 1, with/-out cataracts (EYA1)
- Branchiootorenal syndrome 2 (SIX5)
- CHARGE syndrome (CHD7)
- Duane retraction syndrome 2 (CHN1)
- Duane retraction syndrome 3 (MAFB)
- Duane-radial ray [Okihiro] syndrome (SALL4)
- IVIC syndrome (SALL4)
- Mandibuloacral dysplasia (LMNA)
- Mandibuloacral dysplasia with type B lipodystrophy (ZMPSTE24)
- Mandibulofacial dysostosis with alopecia (EDNRA)
- Mandibulofacial dysostosis, Guion-Almeida type (EFTUD2)
- Miller syndrome, included (DHODH)
- Oculo-auriculo-vertebral spectrum/Goldenhar syndrome [panelapp] (MYT1)
- Otofaciocervical syndrome (EYA1)
- Townes-Brocks branchiootorenal-like syndrome (SALL1)
- Treacher Collins syndrome 1 (TCOF)
- Treacher Collins syndrome 2 (POLR1D)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
- n.k.
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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