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  2. Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
  3. EZH2
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Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders

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

4 reviews

Ivone Leong (Genomics England Curator)

Comment on mode of inheritance: MOI changed from "MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)" to "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown" as advised by Sarah Leigh (Genomics England Curator)
Created: 11 Aug 2021, 12:15 p.m. | Last Modified: 11 Aug 2021, 12:15 p.m.
Panel Version: 1.115
Created: 11 Aug 2021, 12:15 p.m.
Last Modified: 11 Aug 2021, 12:15 p.m.
Panel version: 1.115

Sarah Leigh (Genomics England Curator)

Comment on mode of inheritance: EZH2 is a epigene, where LOF or GOF variants result in a characteristic 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).
Therefore, the MOI should be changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Created: 11 Jan 2021, 3:43 p.m. | Last Modified: 11 Jan 2021, 3:43 p.m.
Panel Version: 1.102
Created: 11 Jan 2021, 3:43 p.m.
Last Modified: 11 Jan 2021, 3:43 p.m.
Panel version: 1.102

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Review and Green rating from Kate Tatton-Brown April 2017. Please include 23865096, 24214728, 22190405. Mechanism of pathogenesis not currently understood
Created: 30 May 2019, 4:57 p.m.

Mode of pathogenicity
Other

Created: 30 May 2019, 4:57 p.m.

Panel version: 1.45

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed with reviewer.
Created: 29 Mar 2016, 3:48 p.m.
Comment on mode of inheritance: Should this be MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)?
Created: 29 Mar 2016, 1:23 p.m.
Created: 29 Mar 2016, 1:23 p.m.

Panel version: 0.6

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Eligibility statement exclusion criteria
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
Phenotypes
  • Weaver syndrome
  • Weaver syndrome 2
  • Weaver syndrome, 277590
  • Weaver Syndrome
OMIM
601573
Clinvar variants
Variants in EZH2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 Aug 2021, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag for-review was removed from gene: EZH2.

11 Aug 2021, Gel status: 3

Set mode of inheritance

Ivone Leong (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: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag for-review tag was added to gene: EZH2.

11 Jan 2021, Gel status: 3

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, maternally imprinted (paternal allele expressed)

30 May 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: EZH2 were set to 23592277; 22177091

30 May 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: EZH2 were set to PMID: 23592277; 22177091

29 Mar 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

29 Mar 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

29 Mar 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for EZH2 were set to PMID: 23592277; 22177091

29 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

EZH2 was created by ellenmcdonagh

29 Mar 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

EZH2 was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorderspanel. Sources: Eligibility statement exclusion criteria,Expert Review Green,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN