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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

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)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
COX7B243NM_001866.3XL
FLNA7920NM_001456.4XL
HCCS807NM_005333.5XL
KIF113171NM_004523.4AD
NDUFB11462NM_001135998.3XL
PLK42913NM_014264.5AR
PORCN1386NM_203475.3XL
SCLT12067NM_144643.4AR
TBC1D324318NM_152730.6AR
TSC13495NM_000368.5AD
TSC25424NM_000548.5AD
TUBGCP42001NM_014444.5AR
TUBGCP65460NM_020461.4AR

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