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 10 panels

2 reviews

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

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.

Details

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

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