DICER1

dicer 1, ribonuclease III
OMIM: 606241, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels
Green DICER1 in ClinGen Gene Validity Curations


Version 0.65

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
  • Other
Phenotypes
  • Pleuropulmonary Blastoma
  • ORPHA64742
  • OMIM 601200
Green DICER1 in Inherited non-medullary thyroid cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.7

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 1.40

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 1.141

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

Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.5

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 3: Childhood Tumours
Level 2: Tumour syndromes
Version 4.18
Latest signed off version: v4.0 (22 Mar 2023)

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 1.25

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 1.27

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 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 2.29
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 Sarcoma susceptibility


Version 1.81
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


Version 1.1
Latest signed off version: v1.0 (14 Sep 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green