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IllnessPerlman syndrome
Summary
Short information
Curated single gene sequence analysis according to the clinical suspicion Perlman syndrome
ID
PS5090
Number of genes
1
Accredited laboratory test
Examined sequence length
2,7 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 | Heredity |
|---|---|---|---|
| DIS3L2 | 2658 | AR |
Informations about the disease
Clinical Comment
Polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with/without nephroblastomatosis), hypertrophy of Langerhans islets, facial dysmorphism
Synonyms
- Alias: Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome (DIS3L2)
- Alias: Renal hamartomas, nephroblastomatosis, fetal gigantism (DIS3L2)
Heredity, heredity patterns etc.
- AR
OMIM-Ps
ICD10 Code
Q87.8
Bioinformatics and clinical interpretation
No text defined