DICER1

dicer 1, ribonuclease III
OMIM: 606241, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels
Green DICER1 in Inherited non-medullary thyroid cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.8

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, OMIM:138800
Green DICER1 in Adult solid tumours for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.42

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • DICER1 syndrome, Familial Multinodular Goiter
Green DICER1 in COVID-19 research


Level 2: Viral research
Version 1.147

review Unknown
Sources
  • Expert Review Green
  • OMIM
  • Expert list
Red DICER1 in Familial rhabdomyosarcoma

Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.6

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Pleuropulmonary blastoma, 601200
  • Rhabdomyosarcoma, embryonal, 2, 180295
Green DICER1 in Childhood solid tumours


Level 2: Cancer susceptibility
Version 5.9
Latest signed off version: v5.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert List
  • Expert Review Green
  • Expert list
Phenotypes
  • Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, OMIM:138800
  • Pleuropulmonary blastoma, OMIM:601200
  • Pleuropulmonary blastoma, MONDO:0011014
  • Rhabdomyosarcoma, embryonal, 2, OMIM:180295
  • Embryonal rhabdomyosarcoma (disease), MONDO:0009993
  • DICER1 syndrome
  • GLOW syndrome
  • Global developmental delay, lung cysts, overgrowth, and wilms tumor, MONDO:0032647
Red DICER1 in Sarcoma cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.26

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Pleuropulmonary blastoma, 601200
  • Rhabdomyosarcoma, embryonal, 2, 180295
Green DICER1 in Childhood solid tumours cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.30

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • DICER1 syndrome
  • Familial Multinodular Goiter
Green DICER1 in Adult solid tumours cancer susceptibility


Level 2: Cancer susceptibility
Version 2.35
Latest signed off version: v2.2 (18 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, OMIM:138800
  • Pleuropulmonary blastoma, OMIM:601200
  • Pleuropulmonary blastoma, MONDO:0011014
  • Rhabdomyosarcoma, embryonal, 2, OMIM:180295
  • Embryonal rhabdomyosarcoma (disease), MONDO:0009993
  • DICER1 syndrome
Red DICER1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.169
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • GLOW syndrome, somatic mosaic, OMIM:618272
  • Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors , OMIM:138800
  • Pleuropulmonary blastoma, OMIM:601200
Red DICER1 in Sarcoma susceptibility


Level 2: Cancer susceptibility
Version 1.82
Latest signed off version: v1.2 (18 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Red
  • Expert Review Red
  • Literature
Phenotypes
  • Pleuropulmonary blastoma, OMIM:601200
  • Pleuropulmonary blastoma, MONDO:0011014
  • Rhabdomyosarcoma, embryonal, 2, OMIM:180295
  • Embryonal rhabdomyosarcoma (disease), MONDO:0009993
Green DICER1 in DICER1-related cancer predisposition


Level 2: Inherited cancer
Version 1.3
Latest signed off version: v1.0 (14 Sep 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, OMIM:138800
  • Pleuropulmonary blastoma, OMIM:601200
  • DICER1-related tumor predisposition, MONDO:0100216
Green DICER1 in Embryonal tumour of possible germline origin


Level 2: Inherited cancer
Version 0.8

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Rhabdomyosarcoma, embryonal, 2, OMIM:180295
  • DICER1-related tumor predisposition, MONDO:0100216
  • rhabdomyosarcoma, embryonal, 2, MONDO:0859046
  • Pleuropulmonary blastoma, OMIM:601200
  • Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, OMIM:138800
Green DICER1 in Sarcoma of possible germline origin


Level 2: Inherited cancer
Version 0.5

review 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