Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
Gene: EZH2Comment 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
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 unknownCreated: 11 Jan 2021, 3:43 p.m. | Last Modified: 11 Jan 2021, 3:43 p.m.
Panel Version: 1.102
Review and Green rating from Kate Tatton-Brown April 2017. Please include 23865096, 24214728, 22190405. Mechanism of pathogenesis not currently understoodCreated: 30 May 2019, 4:57 p.m.
Mode of pathogenicity
Other
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.
Tag for-review was removed from gene: EZH2.
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
Tag for-review tag was added to gene: EZH2.
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)
Publications for gene: EZH2 were set to 23592277; 22177091
Publications for gene: EZH2 were set to PMID: 23592277; 22177091
Mode of inheritance for EZH2 was changed to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Mode of inheritance for EZH2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for EZH2 were set to PMID: 23592277; 22177091
EZH2 was created by ellenmcdonagh
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