Genomic imprinting
Gene: EZH2Comments 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 panelCreated: 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
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes
From the Sotos syndrome gene panel
Gene: ezh2 has been classified as Red List (Low Evidence).
Publications for gene: EZH2 were set to 32243864; 12649488; 18848501
Phenotypes for gene: EZH2 were changed from Weaver syndrome OMIM:277590 to Weaver syndrome OMIM:277590
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
Gene: ezh2 has been removed from the panel.
Mode of inheritance for gene: EZH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mode of inheritance for gene: EZH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
Publications for gene: EZH2 were set to
EZH2 was created by ellenmcdonagh
EZH2 was added to Imprinted Genespanel. Sources: PanelApp