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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessWAGR/WAGRO syndrome, differential diagnosis

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Summary

Short information

A comprehensive panel containing 3 core candidate genes and altogether 8 curated genes for the detailled differential diagnosis according to the clinical suspicion WAGR-/WAGRO syndrome

ID
WP9811
Number of genes
3 Accredited laboratory test
Examined sequence length
3,6 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
BDNF744NM_170735.6AD
PAX61269NM_000280.5AD, AR
WT11569NM_024426.6AD

Informations about the disease

Clinical Comment

Prevalence: unknown

Unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor

 

Synonyms
  • WAGRO syndrome: WAGR syndrome + Obesity; (WT1, PAX6 + BDNF deletion in addition)
  • Microscopic/submicroscopic chromosomal deletion 11p13 (WT1 + PAX6)
  • Alias: WAGR syndrome - 11p13 deletion syndrome
  • Alias: WAGR syndrome: Wilms tumor, Aniridia, Genitourinary anomalies, mental Retardation
  • Alias: WAGRO syndrome - 11p13-p12 deletion syndrome
  • Alias: Wilms tumor-Aniridia-Genitourinary anomalies-Retardation/intellectual disability syndrome
  • Allelic: Anterior segment dysgenesis 5, multiple subtypes (PAX6)
  • Allelic: Cataract 11, multiple types (PITX3)
  • Allelic: Cataract 11, syndromic, AR (PITX3)
  • Allelic: Denys-Drash syndrome (WT1)
  • Allelic: Ring dermoid of cornea (PITX2)
  • Allelic: Skin/hair/eye pigmentation 5, black/nonblack hair (SLC45A2)
  • Allelic: Skin/hair/eye pigmentation 5, dark/fair skin (SLC45A2)
  • Allelic: Skin/hair/eye pigmentation 5, dark/light eyes (SLC45A2)
  • Allelic: Spinocerebellar ataxia 15 (ITPR1)
  • Allelic: Spinocerebellar ataxia 29, congenital nonprogressive (ITPR1)
  • Albinism, oculocutaneous, type IV (SLC45A2)
  • Aniridia (PAX6)
  • Anterior segment dysgenesis 1, multiple subtypes (PITX3)
  • Anterior segment dysgenesis 3, multiple subtypes (FOXC1)
  • Anterior segment dysgenesis 4 (PITX2)
  • Axenfeld-Rieger syndrome, type 1 (PITX2)
  • Axenfeld-Rieger syndrome, type 3 (FOXC1)
  • Gillespie syndrome: aniridia, cerebellar ataxia, mental retardation (ITPR1)
  • PAX6-related aniridia (PAX6)
  • Wilms tumor, type 1 (WT1)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined