Sarcoma cancer susceptibility
Gene: DICER1

DICER1 (dicer 1, ribonuclease III)
EnsemblGeneIds (GRCh38): ENSG00000100697
EnsemblGeneIds (GRCh37): ENSG00000100697
OMIM: 606241, Gene2Phenotype
DICER1 is in 11 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

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

Created: 13 Mar 2019, 2:56 p.m.

Panel version: 1.2

Helen Brittain (Genomics England Curator)

Red List (low evidence)

Only two families with rhabdomyosarcoma (cervical) reported to date. Further evidence needed of a relevant phenotype for the panel
Created: 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

Created: 21 Dec 2017, 10:34 a.m.

Panel version: Imported from Familial rhabdomyosarcoma panel version 0.20

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Red
Literature

Phenotypes

Pleuropulmonary blastoma, 601200
Rhabdomyosarcoma, embryonal, 2, 180295

OMIM

606241

Clinvar variants

Variants in DICER1

Penetrance

None

Panels with this gene

History Filter Activity

13 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: DICER1 was added gene: DICER1 was added to Sarcoma pertinent cancer susceptibility. Sources: Literature,Expert Review Red Mode of inheritance for gene: DICER1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DICER1 were set to Pleuropulmonary blastoma, 601200; Rhabdomyosarcoma, embryonal, 2, 180295

Sarcoma cancer susceptibility Gene: DICER1