1 Matching Annotations
- Apr 2022
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
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
- differentiated thyroid carcinoma
- ciliary body medulloepithelioma
- Gene: DICER1
- cystic nephroma
- ovarian Sertoli-Leydig cell tumor
- cervix embryonal rhabdomyosarcoma
- Zygosity: Heterosygosity
- SLCT
- sarcomas
- pituitary blastoma
- PMID:33552988
- Inheritance Pattern: Autosomal Dominant
- multinodular goiter
- PPB
- familial pleuropulmonary blastoma
- Mutation: Frameshift
- Wilms’ tumor
- nasal chondromesenchymal hamartoma
- pineoblastoma
- Mutation: Nonsense
Annotators
URL
-