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This Panel is marked as Internal

Genomic imprinting
Gene: EZH2

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

2 reviews

Sarah Leigh (Genomics England Curator)

Comments from Prof Ian Morison (Department of Pathology, University of Otago) EZH2 is a component of the Polycomb-group complex. Required for the establishment of imprinting, but not imprinted itself.
Created: 2 Feb 2021, 5:30 p.m. | Last Modified: 2 Feb 2021, 5:30 p.m.

Panel Version: 0.84

Comment on phenotypes: From the Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders gene panel
Created: 11 Jan 2021, 4:31 p.m. | Last Modified: 11 Jan 2021, 4:31 p.m.

Panel Version: 0.38

Comment on mode of inheritance: EZH2 is a epigene, where LOF or GOF variants result in a characterist genome-wide, multilocus DNA methylation signature in the carrier. There does not appear to be evidence for allele specificity of this effect and so this gene should not be regarded as imprinted (PMID 32243864).
Created: 11 Jan 2021, 3:33 p.m. | Last Modified: 11 Jan 2021, 3:33 p.m.

Panel Version: 0.34

Created: 11 Jan 2021, 3:33 p.m.
Last Modified: 2 Feb 2021, 5:27 p.m.
Panel version: 0.84

Ellen McDonagh (Genomics England Curator)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)

Phenotypes
From the Sotos syndrome gene panel

Created: 4 May 2017, 3:16 p.m.

Panel version: 0.1

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Red
PanelApp

Phenotypes

Weaver syndrome OMIM:277590

OMIM

Clinvar variants

Variants in EZH2

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

2 Feb 2021, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: ezh2 has been classified as Red List (Low Evidence).

12 Jan 2021, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: EZH2 were set to 32243864; 12649488; 18848501

11 Jan 2021, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: EZH2 were changed from Weaver syndrome OMIM:277590 to Weaver syndrome OMIM:277590

11 Jan 2021, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: EZH2 were changed from From the Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders gene panel to Weaver syndrome OMIM:277590

11 Jan 2021, Gel status: 0

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: ezh2 has been removed from the panel.

11 Jan 2021, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: EZH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

11 Jan 2021, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: EZH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

11 Jan 2021, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: EZH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

11 Jan 2021, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: EZH2 were set to

4 May 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

EZH2 was created by ellenmcdonagh

4 May 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

EZH2 was added to Imprinted Genespanel. Sources: PanelApp