ClinGen Dosage Sensitivity Curation Page

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  • Curation Status: Complete

Location Information

Select assembly: (NC_000014.8) (NC_000014.9)
Evidence for haploinsufficiency phenotype
PubMed ID Description
24761742 This PMID corresponds to the GeneReviews for this condition, which provides a comprehensive overview of the variant spectrum.

Haploinsufficiency phenotype comments:

Heterozygosity for germline loss-of-function-type mutation (nonsense, frameshift, and exonic deletions) of DICER1 is associated with DICER1 syndrome, a familial tumor susceptibility syndrome characterized by increased susceptibility to develop several rare childhood tumors including pleuropulmonary blastoma; ovarian sex cord-stromal tumors (especially Sertoli-Leydig cell tumor); cystic nephroma; and thyroid gland neoplasias. Penetrance for these phenotypes is unknown, but appears to be reduced. As yet, whole gene deletion of DICER1 has not been reported.

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