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Newborns main panel

Gene: DICER1

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
https://search.clinicalgenome.org/kb/genes/HGNC:17098
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to DICER1. Added phenotypes Pleuropulmonary blastoma predisposition syndrome for gene: DICER1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

14 Jul 2023, Gel status: 3

Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

Mode of inheritance for gene: DICER1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

5 Jul 2023, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to DICER1. Mode of inheritance for gene DICER1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Pleuropulmonary blastoma predisposition syndrome for gene: DICER1 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

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

Mafalda Gomes (Genomics England Curator)

gene: DICER1 was added gene: DICER1 was added to Newborns main panel. Sources: Expert Review Amber 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 predisposition syndrome