Sarah Leigh commented on gene: EZH2: 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.
Sarah Leigh changed review comment from: Comment on list classification: EZH2 has been demoted to a 'Grey' rating on this panel, as an imprinting mechanism for Weaver syndrome 277590 is not proven.; to: Comment on list classification: EZH2 has been rated Red on this panel,
Sarah Leigh 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
Sarah Leigh Added comment: Comment on list classification: EZH2 has been demoted to a 'Grey' rating on this panel, as an imprinting mechanism for Weaver syndrome 277590 is not proven.
Sarah Leigh Mode of inheritance for gene: EZH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarah Leigh Mode of inheritance for gene: EZH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sarah Leigh Added comment: 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).
Sarah Leigh 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