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.