English
Klinische FragestellungAicardi-Syndrom, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Aicardi-Syndrom mit 13 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
AP9228
Anzahl Loci
| Locus-Typ | Anzahl |
|---|---|
| Gen | 13 |
Untersuchte Sequenzlänge
0,0 kb (Core-/Core-canditate-Gene)
39,7 kb (Erweitertes Panel: inkl. additional genes)
39,7 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Loci
Gen
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| COX7B | 243 | NM_001866.3 | XL | |
| FLNA | 7920 | NM_001456.4 | XL | |
| HCCS | 807 | NM_005333.5 | XL | |
| KIF11 | 3171 | NM_004523.4 | AD | |
| NDUFB11 | 462 | NM_001135998.3 | XL | |
| PLK4 | 2913 | NM_014264.5 | AR | |
| PORCN | 1386 | NM_203475.3 | XL | |
| SCLT1 | 2067 | NM_144643.4 | AR | |
| TBC1D32 | 4318 | NM_152730.6 | AR | |
| TSC1 | 3495 | NM_000368.5 | AD | |
| TSC2 | 5424 | NM_000548.5 | AD | |
| TUBGCP4 | 2001 | NM_014444.5 | AR | |
| TUBGCP6 | 5460 | NM_020461.4 | AR |
Infos zur Erkrankung
Synonyme
- Sympt.: Agenesis of the corpus callosum, infantile spasms, neuronal migration disorders
- Alias: Balkenagenesie mit chorioretinaler Anomalie
- Allelic: Cardiac valvular dysplasia, XL (FLNA)
- Allelic: Congenital short bowel syndrome (FLNA)
- Allelic: Intestinal pseudoobstruction, neuronal (FLNA)
- Allelic: Lymphangioleiomyomatosis (TSC1, TSC2)
- Allelic: Mitochondrial complex I deficiency, nuclear type 30 (NDUFB11)
- Allelic: Terminal osseous dysplasia (FLNA)
- FG syndrome 2 (FLNA)
- Focal cortical dysplasia, type II, somatic (TSC1, TSC2)
- Focal dermal hypoplasia (PORCN)
- Frontometaphyseal dysplasia 1 (FLNA)
- Heterotopia, periventricular, 1 (FLNA)
- Linear skin defects with multiple congenital anomalies 1 (HCCS)
- Linear skin defects with multiple congenital anomalies 2 (COX7B)
- Linear skin defects with multiple congenital anomalies 3 (NDUFB11)
- Melnick-Needles syndrome (FLNA)
- Microcephaly + chorioretinopathy, AR, 1 (TUBGCP6)
- Microcephaly + chorioretinopathy, AR, 2 (PLK4)
- Microcephaly + chorioretinopathy, AR, 3 (TUBGCP4)
- Microcephaly with/-out chorioretinopathy, lymphedema, or mental retardation (KIF11)
- Orofaciodigital syndrome IX (TBC1D32)
- Otopalatodigital syndrome, type I (FLNA)
- Otopalatodigital syndrome, type II (FLNA)
- Tuberous sclerosis-1 (TSC1)
- Tuberous sclerosis-2 (TSC2)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
- XL
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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