DICER1

dicer 1, ribonuclease III
OMIM: 606241, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green DICER1 in ClinGen Gene Validity Curations


Version 0.64

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 1.5

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 1.22

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 1.73

review Unknown
Sources
  • Expert Review Green
  • OMIM
  • Expert list

Red DICER1 in Familial rhabdomyosarcoma

Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.4

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Pleuropulmonary blastoma, 601200
  • Rhabdomyosarcoma, embryonal, 2, 180295

Green DICER1 in Tumour predisposition - childhood onset

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 2.16
Signed off v.2.5 on 4 Mar 2020

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 1.15

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 1.14

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 2.7
Signed off v.2.2 on 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 1.5
Signed off v.1.2 on 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