ClinGen Dosage Sensitivity Curation Page

See New Dosage Map New! The ClinGen Dosage Sensitivity curations and downloads that are available at this site are now also available at www.clinicalgenome.org. Click on the button to access Dosage Sensitivity in the context of ClinGen's other curated information, including Gene-Disease Validity and Clinical Actionability.

WT1

  • Curation Status: Complete

Location Information

Select assembly: (NC_000011.9) (NC_000011.10)
  • Haploinsufficiency score: 3
  • Strength of Evidence (disclaimer): Sufficient evidence for dosage pathogenicity
  • Haploinsufficiency Phenotype: WILMS TUMOR 1; WT1

Haploinsufficiency phenotype comments:

Deletions and loss of function mutations are associated with increased risk for Wilms tumor with or without genitourinary malformations and/or renal failure. See Gene Reviews and Royer-Pokora (2004) PMID:15150775 for review. Large deletions that also encompass the PAX6 gene lead to WAGR syndrome (Wilms tumor-aniridia-genital anomalies-retardation). There are also many heterozygous missense mutations described that may act in a dominant negative manner that lead to a spectrum of clinical phenotypes including Denys-Drash syndrome, Frasier syndrome, Meacham syndrome, and Nephrotic syndrome type 4.

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Triplosensitivity phenotype comment:

Aalfs (1997), PMID: 9415682 - This is a report of a girl with developmental disabilities and minor congenital anomalies who had a large duplication that included WT1 and other genes. The patient did not have genitourinary malformations or Wilms tumor.