Sarcoma susceptibility

Gene: DICER1

Red List (low evidence)

DICER1 (dicer 1, ribonuclease III)
EnsemblGeneIds (GRCh38): ENSG00000100697
EnsemblGeneIds (GRCh37): ENSG00000100697
OMIM: 606241, Gene2Phenotype
DICER1 is in 10 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

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Red
  • Expert Review Red
  • Literature
Phenotypes
  • Pleuropulmonary blastoma, 601200
  • Rhabdomyosarcoma, embryonal, 2, 180295
OMIM
606241
Clinvar variants
Variants in DICER1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to DICER1.

23 Jul 2019, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

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