DICER1

dicer 1, ribonuclease III
OMIM: 606241
PanelMode of inheritanceDetails
5 panels
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
DICER1 syndrome, Familial Multinodular Goiter
Signed-off version 5.11
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, OMIM:138800, Pleuropulmonary blastoma, OMIM:601200, Pleuropulmonary blastoma, MONDO:0011014, Rhabdomyosarcoma, embryonal, 2, OMIM:180295, Embryonal rhabdomyosarcoma (disease), MONDO:0009993, DICER1 syndrome, GLOW syndrome, Global developmental delay, lung cysts, overgrowth, and wilms tumor, MONDO:0032647
R-numbers: R364
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
R-numbers: R456
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Rhabdomyosarcoma, embryonal, 2, OMIM:180295, DICER1-related tumor predisposition, MONDO:0100216, rhabdomyosarcoma, embryonal, 2, MONDO:0859046, Pleuropulmonary blastoma, OMIM:601200, Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, OMIM:138800
R-numbers: R457
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pleuropulmonary blastoma, OMIM:601200, Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, OMIM:138800, Rhabdomyosarcoma, embryonal, 2, OMIM:180295, rhabdomyosarcoma, embryonal, 2, MONDO:0859046, DICER1-related tumor predisposition, MONDO:0100216