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Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.102 EZH2 Sarah Leigh Tag for-review tag was added to gene: EZH2.
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.102 EZH2 Sarah Leigh Added comment: 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
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.102 EZH2 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, maternally imprinted (paternal allele expressed)
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.46 EZH2 Louise Daugherty Publications for gene: EZH2 were set to 23592277; 22177091
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.45 EZH2 Louise Daugherty reviewed gene: EZH2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: None
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.45 EZH2 Louise Daugherty Publications for gene: EZH2 were set to PMID: 23592277; 22177091