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  2. Childhood solid tumours
  3. EZH2
STRs in panel
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Childhood solid tumours

Gene: EZH2

Green List (high evidence)
EZH2 (enhancer of zeste 2 polycomb repressive complex 2 subunit)
EnsemblGeneIds (GRCh38): ENSG00000106462
EnsemblGeneIds (GRCh37): ENSG00000106462
OMIM: 601573, Gene2Phenotype
EZH2 is in 8 panels

5 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
Weaver syndrome, 277590

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

Panel version: 1.23

Richard Scott (Genomics England Curator)

Comment on list classification: See review
Created: 7 Mar 2016, 11:31 p.m.
Created: 7 Mar 2016, 11:31 p.m.

Panel version: 0.59

Richard Scott (North Thames GMC/UCL)

Green List (high evidence)

Malignancy is not common but occurs with increased frequency in childhood in EZHZ-Weaver syndrome
Created: 7 Mar 2016, 11:27 p.m.

Phenotypes
277590

Publications

Created: 7 Mar 2016, 11:27 p.m.

Panel version: 0.58

Ellen Thomas (Genomics England Curator)

Comment when marking as ready: Weaver syndrome is similar to Beckwith Wiedemann but not associated with malignancy.
Created: 14 Feb 2016, 4:44 p.m.
Created: 14 Feb 2016, 4:44 p.m.

Panel version: 0.14

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert List
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Weaver syndrome, 277590
  • Weaver Syndrome
OMIM
601573
Clinvar variants
Variants in EZH2
Penetrance
Complete
Panels with this gene

History Filter Activity

2 Aug 2019, Gel status: 3

Added New Source, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to EZH2. Added phenotypes Weaver syndrome, 277590 for gene: EZH2

30 Jan 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert List was added to EZH2. 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).

14 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

14 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

22 Jul 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

EZH2 was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: UKGTN

22 Jul 2015, Gel status: 2

Set Mode of Inheritance

Eik Haraldsdottir (Genomics England)

Model of inheritance for gene EZH2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

22 Jul 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

EZH2 was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Illumina TruGenome Clinical Sequencing Services

22 Jul 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

EZH2 was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Radboud University Medical Center, Nijmegen