Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes DICER1 syndrome, Familial Multinodular Goiter |
Green in Childhood solid tumoursR-numbers: R359 Signed-off version 4.0 | 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 |
Green in DICER1-related cancer predispositionR-numbers: R364 Signed-off version 1.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes |