IllnessFrasier syndrome
Summary
Short information
Curated single gene sequence analysis according to the clinical suspicion Frasier syndrome
ID
FS0400
Number of genes
1
Accredited laboratory test
Examined sequence length
1,6 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 |
---|---|---|---|
WT1 | 1569 | AD, SMu |
Informations about the disease
Clinical Comment
Syndromic glomerular disorder with progressive glomerular nephropathy + 46XY complete gonadal dysgenesis, high risk for developing gonadoblastomas
DD Wilms tumor: BLM, BRCA2, BUB1B, CDC73, CTR9, DICER1, DIS3L2, GPC3, GPC4, PALB2, PIK3CA, REST, TP53, TRIM37 genes
DD non-syndromic disorders of testis development: DHH, DMRT1, MAP3K1, NR5A1, SRY, STAR, CYP11A1, HSD3B2, CYP17A1, POR, HSD17β3, SRD5A2, AKR1C2, KR1C4, LHCGR, KAL1, AR, CBX2 genes
DD Diaphragmatic hernias s. ZP3999
Synonyms
- WT1 disorders: Denys-Drash, Frasier + Meacham syndromes [glomerulopathy with large symptom overlap]
- Allelic: Denys-Drash syndrome (WT1)
- Allelic: Meacham syndrome (WT1)
- Allelic: Nephrotic syndrome, type 4 (WT1)
- Allelic: Wilms tumor, type 1 (WT1)
- Pseudohermaphroditism + progressive glomerulopathy, normal female external genitalia (WT1)
- Streak gonads, XY karyotype, gonadoblastoma (WT1)
Heredity, heredity patterns etc.
- AD
- SMu
OMIM-Ps
ICD10 Code
N04.1
Bioinformatics and clinical interpretation
No text defined