24 Matching Annotations
  1. Aug 2022
  2. May 2022
    1. Pathogenic germline variants in DICER1 underlie an autosomal dominant, pleiotropic tumor-predisposition disorder.

      gene name: DICER 1 PMID (PubMed ID): 33570641 HGNCID: n/a Inheritance Pattern: autosomal dominant Disease Entity: benign and malignant tumor mutation Mutation: somatic Zygosity: heterozygous Variant: n/a Family Information: n/a Case: people of all sexes, ages, ethnicities and races participated CasePresentingHPOs: individuals with DICER1-associated tumors or pathogenic germline DICER1 variants were recruited to participate CasePreviousTesting: n/a gnomAD: n/a

  3. Apr 2022
    1. The DICER1 syndrome is an autosomal dominant tumor‐predisposi-tion disorder associated with pleuropulmonary blastoma, a rare pediatric lung cancer

      GeneName:DICER1 PMID (PubMed ID): PMCID: PMC6418698 PMID: 30672147 HGNCID: NOT LISTED<br /> Inheritance Pattern: Autosomal Dominant Disease Entity: Cancer; benign and malignant tumors including pleuropulmonary blastoma, cystic nephroma, Sertoli-Leydig cell tumors, multinodular goiter, Thryoid cancer, rhabdomyosarcoma, and pineoblastoma. Mutation: Somatic missense variation Mutation type: missense Zygosity: None stated Variant: unregistered…. Family Information: Characterize germline variants in familial early-onset clorectal cancer patients; The observation of germline DICER1 variation with uterine corpus endometrial carcinoma merits additional investigation. CasePresentingHPOs: uterine and rectal cancers in germline mutation

    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

  4. Feb 2022
    1. Mike Honey 💉💉💉. (2022, January 27). Here’s the latest variant picture for Australia. BA.1 (Omicron) is still very dominant. The new sub-lineage BA.1.1 (with the Spike R346K mutation) is significant, but not growing rapidly. Https://t.co/LsOCkUQhai [Tweet]. @Mike_Honey_. https://twitter.com/Mike_Honey_/status/1486654152939765766

    1. Prof. Christina Pagel. (2022, January 31). Update on growth of Omicron subvariant BA.2 in England from Wellcome Sanger data. Growing in all regions. The main Omicron variant we’ve had so far is BA.1. There is then its child BA.1.1 with an extra mutation and its brother BA.2 which is pretty different to BA.1. 1/2 https://t.co/iVxrf01P4o [Tweet]. @chrischirp. https://twitter.com/chrischirp/status/1488127760291799041

  5. Jan 2022
  6. Dec 2021
    1. Arieh Kovler. (2021, November 26). Israel has identified four cases of the B.1.1.529 variant, all recent travellers. One case, a 32-year-old woman returning from South Africa, was triple vaccinated with Pfizer and had her 3rd dose just two months ago. [Tweet]. @ariehkovler. https://twitter.com/ariehkovler/status/1464190991204859919

  7. Oct 2021
  8. Aug 2021
  9. May 2021
  10. Mar 2021
  11. Feb 2021