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  3. DICER1
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Sarcoma of possible germline origin

Gene: DICER1

Green List (high evidence)
DICER1 (dicer 1, ribonuclease III)
EnsemblGeneIds (GRCh38): ENSG00000100697
EnsemblGeneIds (GRCh37): ENSG00000100697
OMIM: 606241, Gene2Phenotype
DICER1 is in 13 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

DICER1 has been added to the panel for the clinical indication 'R457 Sarcoma of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 26 Jan 2026, 6:28 p.m. | Last Modified: 26 Jan 2026, 6:28 p.m.
Panel Version: 0.4
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #180295, #138800 & #601200) and the OMIM records were last accessed on 30 December 2025.
Created: 30 Dec 2025, 2:24 p.m. | Last Modified: 30 Dec 2025, 2:24 p.m.
Panel Version: 0.2

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pleuropulmonary blastoma, OMIM:601200; Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, OMIM:138800; Rhabdomyosarcoma, embryonal, 2, OMIM:180295; rhabdomyosarcoma, embryonal, 2, MONDO:0859046; DICER1-related tumor predisposition, MONDO:0100216

Created: 30 Dec 2025, 2:24 p.m.
Last Modified: 30 Dec 2025, 2:24 p.m.
Panel version: 0.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Pleuropulmonary blastoma, OMIM:601200
  • Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, OMIM:138800
  • Rhabdomyosarcoma, embryonal, 2, OMIM:180295
  • rhabdomyosarcoma, embryonal, 2, MONDO:0859046
  • DICER1-related tumor predisposition, MONDO:0100216
OMIM
606241
Clinvar variants
Variants in DICER1
Penetrance
None
Panels with this gene

History Filter Activity

30 Dec 2025, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: DICER1 was added gene: DICER1 was added to Sarcoma of possible germline origin. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: DICER1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DICER1 were set to Pleuropulmonary blastoma, OMIM:601200; Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, OMIM:138800; Rhabdomyosarcoma, embryonal, 2, OMIM:180295; rhabdomyosarcoma, embryonal, 2, MONDO:0859046; DICER1-related tumor predisposition, MONDO:0100216