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IllnessAicardi syndrome, differential diagnosis
Summary
Short information
Albeit the causally responsible gene is still unknown, herewith a comprehensive differential diagnostic panel for Aicardi syndrome comprising 13 curated genes according to the clinical signs
ID
AP9228
Number of genes
13
Accredited laboratory test
Examined sequence length
0,0 kb (Core-/Core-canditate-Genes)
39,7 kb (Extended panel: incl. additional genes)
39,7 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| 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 |
Informations about the disease
Synonyms
- 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)
Heredity, heredity patterns etc.
- AD
- AR
- XL
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined