Deutsch
IllnessPLA2G6-associated neurodegeneration
Summary
Short information
Curated single gene sequence analysis according to the clinical suspicion PLA2G6-associated neurodegeneration
ID
PS0650
Number of genes
1
Accredited laboratory test
Examined sequence length
2,5 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 +
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| PLA2G6 | 2421 | NM_003560.4 | AR |
Informations about the disease
Clinical Comment
Neurodegeneration with brain iron accumulation with psychomotor delay + regression, symmetrical pyramidal tract signs + spastic tetraplegia; may be classic or atypical
Synonyms
- Alias: Karak syndrome (PLA2G6)
- Alias: Phospholipase A2-associated neurodegeneration, PLAN (PLA2G6)
- Allelic: Infantile neuroaxonal dystrophy 1 (PLA2G6)
- Allelic: Parkinson disease 14, AR (PLA2G6)
- Neurodegeneration with brain iron accumulation 2B (PLA2G6)
Heredity, heredity patterns etc.
- AR
OMIM-Ps
ICD10 Code
G23.0
Bioinformatics and clinical interpretation
No text defined