Deutsch
IllnessFragile X-associated tremor / ataxia syndrome [FXTAS]
Summary
Short information
Curated analysis of the premutation(s) in FMR1 gene (>54-200 CGG trinucleotides)
ID
FP0200
Number of genes
1
Accredited laboratory test
Examined sequence length
1,9 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
X
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| FMR1 | 1899 | NM_002024.6 | XL |
Informations about the disease
Clinical Comment
Leitlinie: Ataxien des Erwachsenenalters; S1; Stand: 08.02.2018, gültig bis 07.02.2023 Deutsche Gesellschaft für Neurologie e.V. (DGN)
Synonyms
- Alias: Fragile X tremor/ataxia syndrome (FMR1_CCG; FMR1)
- Allelic: Fragile X syndrome (FMR1_CCG; FMR1)
- Allelic: Premature ovarian failure 1 (FMR1_CCG)
Heredity, heredity patterns etc.
- XL
OMIM-Ps
ICD10 Code
G11.-
Bioinformatics and clinical interpretation
No text defined