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A case of: Disease assertion: family information: case presenting:
7 Matching Annotations
- Oct 2022
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clinicalgenome.org clinicalgenome.org
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- May 2022
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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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
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Embryonal rhabdomyosarcoma (ERMS) of the uterus has recently been shown to frequently harbor DICER1 mutations.
HGNCID:
Tags
- Zygosity: Some Cases displayed homozygosity
- pathogenicity: only 2 of 17 patients died from disease
- Disease Entity: Embryonal rhabdomyosarcoma (ERMS)
- Mutation: c.3580delA
- Mutation: c.4420A>G
- PMID (PubMed ID): 33846547
- Mutation: c.5428G>T
- Mutation: c.4267G>T
- Inheritance Pattern: Non- inheritance(DNA methylation)
- GeneName: DICER1
- Mutation: c.5125G > A
- Mutation: 5428 G>C
- Variant: Clinvar ID not identified
- case wt: m&f 0.5-19
- Mutation: c5113G>A
- Mutation: c.5438 A> C
- Family Information: not identified
- case mut: f 28-67
Annotators
URL
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- Apr 2022
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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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
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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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
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- May 2020
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psyarxiv.com psyarxiv.com
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Espinosa, F. d., Metko, A., Raimondi, M., Impenna, M., & Scognamiglio, E. (2020, April 10). A Model of Support for Families of Children with Autism Living in the COVID-19 Lockdown: Lessons from Italy. https://doi.org/10.31234/osf.io/48cme
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- Apr 2020
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www.bps.org.uk www.bps.org.uk
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British Psychological Society. (2020 March 25). Advice on talking to children about illness. https://www.bps.org.uk/news-and-policy/advice-talking-children-about-illness
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