IllnessFrasier syndrome

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Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion Frasier syndrome

FS0400

Number of genes

1 Accredited laboratory test

Examined sequence length

1,6 kb (Core-/Core-canditate-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	607102	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.

OMIM-Ps

136680

ICD10 Code

N04.1

Bioinformatics and clinical interpretation

No text defined