- May 2022
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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DICER1 syndrome is a rare genetic condition predisposing to hereditary cancer and caused by variants in the DICER1
GeneName: DICER1 PMCID: PMC7859642 HGNCID: Unavailable Inheritance Pattern: Autosomal dominant. Disease Entity: Familial pleuropulmonary blastoma (PPB), cervix embryonal rhabdomyosarcoma, multinodular goiter, nasal chondromesenchymal hemartoma, Ciliary body medulloepithelioma, Sertoli-Leydig Cell Tumor (SLCT), differentiated thyroid carcinoma, pituitary blastoma, pineoblastoma, cystic nephroma, Wilm's tumor and sarcomas of different sites including, amongst others, the uterine cervix, kidney and brain. Mutation: Germline Zygosity: Heterozygose Variant: No ClinVarID present. Family Information: No family outline Case: No specified information of patients included. CasePresentingHPO's: n/a CasePrevious Testing: n/a gnomAD: n/a Mutation Type: nonsense, frameshift, or splice affected.
Tags
- Cervix embryonal rhabdomyosarcoma
- Multinodular goiter
- Sertoli-Letdig Cell Tumor(SLCT)
- Mutation type: Nonsense
- Inheritance Pattern: Autosomal dominant
- Gene: DICER1
- Familial pleuropulmonary blastoma (PPB)
- Wilm's tumor
- Differentiated thyroid carcinoma
- PMCID: PMC7859642
- Zygosity: Heterozygous
- Mutation type: Frameshift
- Nasal chondromesenchymal hemartoma
- Mutation: Germline
- Ciliary body medulloepitheliomma
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 a cancer-predisposing disorder caused by pathogenic variants in the DICER1 gene
Gene: DICER1 PMCID: PMC7859642 PMID: 33552988 HGNCID: Unavailable Inheritance Pattern: Autosomal Dominant Disease Entity: familial pleuropulmonary blastoma (PPB),cystic nephroma, ovarian Sertoli-Leydig cell tumor (SLCT), multinodular goiter, cervix embryonal rhabdomyosarcoma, Wilms’ tumor, nasal chondromesenchymal hamartoma, ciliary body medulloepithelioma, differentiated thyroid carcinoma, pituitary blastoma, pineoblastoma, and sarcomas of different sites. Mutation: Germline Zygosity: Heterozygosity most common Variant: ClinVarID not available Family Information: No mention of disease within family Case: No case specified GnomAD: N/A Mutation Type: Nonsense or Frameshift
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