ClinGen Gene Validity Curations
Gene: DICER1EnsemblGeneIds (GRCh38): ENSG00000100697
EnsemblGeneIds (GRCh37): ENSG00000100697
OMIM: 606241, Gene2Phenotype
DICER1 is in 13 panels
1 review
Ellen McDonagh (Genomics England Curator)
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/3212Created: 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
-
- Embryonal tumour of possible germline origin
- Sarcoma susceptibility
- DICER1-related cancer predisposition
- Adult solid tumours cancer susceptibility
- Sarcoma cancer susceptibility
- COVID-19 research
- Childhood solid tumours
- Sarcoma of possible germline origin
- Inherited non-medullary thyroid cancer
- Fetal anomalies
- Familial rhabdomyosarcoma
- Childhood solid tumours cancer susceptibility
- Adult solid tumours for rare disease
History Filter Activity
Added New Source
Ellen McDonagh (Genomics England Curator)DICER1 was added to ClinGen Gene Validity Curationspanel. Source: ClinGen
Set publications
Ellen McDonagh (Genomics England Curator)Publications for DICER1 were set to 19556464; 22180160; 25118636; 19556464; 16452165
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Ellen McDonagh (Genomics England Curator)DICER1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)DICER1 was added to ClinGen Gene Validity Curationspanel. Sources: Other