- 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
- Mutation type: Frameshift
- Wilm's tumor
- Familial pleuropulmonary blastoma (PPB)
- Mutation: Germline
- Zygosity: Heterozygous
- Multinodular goiter
- Inheritance Pattern: Autosomal dominant
- Cervix embryonal rhabdomyosarcoma
- Nasal chondromesenchymal hemartoma
- Ciliary body medulloepitheliomma
- Mutation type: Nonsense
- Differentiated thyroid carcinoma
- Sertoli-Letdig Cell Tumor(SLCT)
- PMCID: PMC7859642
- Gene: DICER1
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 rare genetic condition predisposing to hereditary cancer and caused by variants in the DICER1 gene.
Gene Name: DICER1 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: Nonsense, Frameshift<br /> Zygosity: Heterosygosity Variant:No ClinVar ID present Family Information:no diseases mentioned in family Case: no specified case in this article gnomAD: n/a Mutation type: Nonsense. frameshift
Tags
- familial pleuropulmonary blastoma
- pineoblastoma
- cystic nephroma
- Inheritance Pattern: Autosomal Dominant
- multinodular goiter
- ciliary body medulloepithelioma
- PPB
- Zygosity: Heterosygosity
- sarcomas
- differentiated thyroid carcinoma
- nasal chondromesenchymal hamartoma
- Gene: DICER1
- ovarian Sertoli-Leydig cell tumor
- pituitary blastoma
- cervix embryonal rhabdomyosarcoma
- Wilms’ tumor
- PMID:33552988
- SLCT
- Mutation: Nonsense
- Mutation: Frameshift
Annotators
URL
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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The DICER1 gene, located on chromosome 14, position q32.13, encodes the endoribonuclease Dicer protein of the ribonuclease III family
GeneName: Dicer1 PMID (PubMedID): 29782508 HGNCID= Unavailable Inheritance Pattern: Autosomal Dominant Disease Entity: cancer, multinodular goiter, pleuropulmonary blastoma, cystic nephroma, and ovarian Sertoli-Leydig Cell Tumor Mutation: germline or somatic Zygosity: causes loss of heterozygosity Variant: unregistered Family: those that have the mutation almost always pass it on.
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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
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