Sarcoma susceptibility
Gene: DICER1
This gene was added to this panel after feedback from Laura King (Great Ormond Street Hospital, London) to include genes from the Familial rhabdomyosarcoma gene panel (code 290 version 1.4) and the Inherited predisposition to GIST gene panel (code 523, version 0.20). The highest rating for this gene from these two panels was Red, as captured here in this review.Created: 13 Mar 2019, 2:56 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Pleuropulmonary blastoma, 601200; Rhabdomyosarcoma, embryonal, 2, 180295
Only two families with rhabdomyosarcoma (cervical) reported to date. Further evidence needed of a relevant phenotype for the panelCreated: 21 Dec 2017, 10:34 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Pleuropulmonary blastoma, 601200; Rhabdomyosarcoma, embryonal, 2, 180295
Publications for gene: DICER1 were set to 30989777
Phenotypes for gene: DICER1 were changed from Pleuropulmonary blastoma, 601200; Rhabdomyosarcoma, embryonal, 2, 180295 to Pleuropulmonary blastoma, OMIM:601200; Pleuropulmonary blastoma, MONDO:0011014; Rhabdomyosarcoma, embryonal, 2, OMIM:180295; Embryonal rhabdomyosarcoma (disease), MONDO:0009993
Source NHS GMS was added to DICER1.
gene: DICER1 was added gene: DICER1 was added to Sarcoma susceptibility. Sources: Expert Review Red Mode of inheritance for gene: DICER1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DICER1 were set to 30989777 Phenotypes for gene: DICER1 were set to Pleuropulmonary blastoma, 601200; Rhabdomyosarcoma, embryonal, 2, 180295