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  3. DICER1
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Childhood solid tumours

Gene: DICER1

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

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene green.
Created: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
Created: 2 Aug 2019, 11:03 a.m.
Last Modified: 2 Aug 2019, 11:03 a.m.
Panel version: 1.27

Lara Hawkes (Genomics England)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
DICER1 syndrome, Familial Multinodular Goiter

Created: 30 Jan 2019, 11:20 a.m.

Panel version: 1.23

Richard Scott (Genomics England Curator)

Comment on list classification: Associated with pleurobulmonaryblastoma (including bilateral) and other childhood tumours
Created: 7 Mar 2016, 11:43 p.m.
Created: 7 Mar 2016, 11:43 p.m.

Panel version: 0.72

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert List
  • Expert Review Green
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
OMIM
606241
Clinvar variants
Variants in DICER1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 Dec 2020, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: DICER1 were set to 21205968

2 Dec 2020, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: DICER1 were changed from Familial Multinodular Goiter; DICER1 syndrome; 601200 to 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

2 Aug 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to DICER1. Mode of inheritance for gene DICER1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes DICER1 syndrome; Familial Multinodular Goiter for gene: DICER1 Publications for gene DICER1 were changed from 19556464 to 21205968

30 Jan 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert List was added to DICER1. Rating Changed from Green List (high evidence) to Green List (high evidence)

7 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 Mar 2016, Gel status: 0

Added New Source

Richard Scott (North Thames GMC/UCL)

DICER1 was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Expert list

7 Mar 2016, Gel status: 0

Created

Richard Scott (North Thames GMC/UCL)

DICER1 was created by Reviewer_03