ClinGen Dosage Sensitivity Curation Page

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  • 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.