IllnessRett syndrome
Summary
Short information
Guideline-curated single gene sequence analysis according to the clinical suspicion Rett syndrome
ID
RS5080
Number of genes
1
Accredited laboratory test
Examined sequence length
1,5 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Sanger
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
MECP2 | 1461 | NM_004992.4 | XL |
Informations about the disease
Clinical Comment
Neurological disorder almost exclusively affecting girls with rapid developmental regression in infancy, loss of purposeful hand movements + speech, gait abnormalities, repetitive stereotypic hand movements; severe intellectual disability, microcephaly, seizures, breathing abnormalities, disturbed sleeping patterns, scoliosis, impaired social interactions or social withdrawal etc.; progresses in stages, with late motor deterioration eventually leading to decreased mobility, muscle weakness, rigidity, spasticity, dystonia
Synonyms
- Allelic: Autism susceptibility, XL 3 (MECP2)
- Allelic: Encephalopathy, neonatal severe (MECP2)
- Allelic: Mental retardation, XL syndromic, Lubs type (MECP2)
- Allelic: Mental retardation, XL, syndromic 13 (MECP2)
- Rett syndrome (MECP2)
- Rett syndrome, atypical (MECP2)
- Rett syndrome, preserved speech variant (MECP2)
Heredity, heredity patterns etc.
- XL
OMIM-Ps
ICD10 Code
F84.2
Bioinformatics and clinical interpretation
No text defined