Wilms Tumour
Gene: DICER1EnsemblGeneIds (GRCh38): ENSG00000100697
EnsemblGeneIds (GRCh37): ENSG00000100697
OMIM: 606241, Gene2Phenotype
DICER1 is in 8 panels
1 review
Chirag Patel (Genetic Health Queensland)
ClinGen definitive. Some evidence for presentation with Wilms tumour in disease.
Sources: Expert list, Expert ReviewCreated: 26 Sep 2024, 1:32 a.m. | Last Modified: 26 Sep 2024, 1:54 a.m.
Panel Version: 0.39
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Wilms tumor, MONDO:0006058; DICER1-related tumor predisposition, MONDO:0100216; DICER1 syndrome, MIM#601200
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Expert Review
- Expert list
- Phenotypes
-
- Wilms tumor, MONDO:0006058
- DICER1-related tumor predisposition, MONDO:0100216
- DICER1 syndrome, MIM#601200
- OMIM
- 606241
- Clinvar variants
- Variants in DICER1
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dicer1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: dicer1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: DICER1 was added gene: DICER1 was added to Wilms Tumour. Sources: Expert list,Expert Review Mode of inheritance for gene: DICER1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DICER1 were set to Wilms tumor, MONDO:0006058; DICER1-related tumor predisposition, MONDO:0100216; DICER1 syndrome, MIM#601200 Review for gene: DICER1 was set to AMBER