3 Matching Annotations
  1. Apr 2022
    1. DICER1 syndrome is an autosomal-dominant, pleiotropic tumor-predisposition disorder

      Gene Name:DICER1 PMID: 30715996 HGNCID: Not on document Inheritance Pattern: Autosomal Dominant Disease Entity: Pleiotropic Tumor-Predisposition Disorder Mutation: Pathogenic Germline Variants Zygosity: Not in document Variant: Not in document Family Information: An individual was found who had family members who were also affected by this mutation. Because of this, those family members were also chosen to participate in this study. Mutation Type: Missense Case: The study was done on more than one individual. Roughly more than half of the individuals were female

    1. DICER1 syndrome (OMIM 606241, 601200)

      Gene Name: OMIN PMID: 34599283 Autosomal Dominant Gynandroblastoma cERMS Pediatric Paratesticular Sarcomas nephrolithiasis or nephrocalcinonsis Cystic Nephroma Anaplastic Sarcoma of Kidney Wilms tumor Cystic Hepatic Neoplasm Hamartomatous polyps

      Germline mutation heterozygosity Multiple Gene Variants There is usually a family history or a carrier for the mutation it rarely occurs out of nowhere.

    1. DICER1 syndrome is a rare genetic disorder that predisposes individuals to multiple cancer types.

      GeneName = DICER1 PMID = 29762508 HGNCID = Can't find Inheritance pattern = Autosomal dominant Disease entity = cancer, multinodular goiter, pleuropulmonary blastoma, cystic nephroma, ovarian Sertoli-Leydig cell tumor Mutation = germline OR somatic Zygosity = causes loss of heterozygosity Variant = unregistered Family = those with the mutation almost always passed it on