ClinGen Gene Validity Curations

Gene: DICER1

Green List (high evidence)

DICER1 (dicer 1, ribonuclease III)
EnsemblGeneIds (GRCh38): ENSG00000100697
EnsemblGeneIds (GRCh37): ENSG00000100697
OMIM: 606241, Gene2Phenotype
DICER1 is in 9 panels

1 review

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

This gene and information sourced from the ClinGen Gene Validity Curations. For the full report and publications, see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity.
Created: 23 Jun 2017, 11:51 a.m.
Source: ClinGen Gene Validity Classification Summary. Determined as DEFINITIVE by calculated classification (dated: 05/06/2016) and DEFINITIVE by Expert curation (dated 01/08/2017). Available here: https://search.clinicalgenome.org/kb/gene-validity/3212
Created: 19 Apr 2017, 2:08 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
  • Other
Phenotypes
  • Pleuropulmonary Blastoma
  • ORPHA64742
  • OMIM 601200
OMIM
606241
Clinvar variants
Variants in DICER1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

20 Jun 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

DICER1 was added to ClinGen Gene Validity Curationspanel. Source: ClinGen

19 Apr 2017, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for DICER1 were set to 19556464; 22180160; 25118636; 19556464; 16452165

19 Apr 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Apr 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

DICER1 was created by ellenmcdonagh

19 Apr 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

DICER1 was added to ClinGen Gene Validity Curationspanel. Sources: Other