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Test MOI validation panel - do not edit

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 8 panels

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Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Across panel tests - imprinting different
OMIM
601573
Clinvar variants
Variants in EZH2
Penetrance
None
Panels with this gene

History Filter Activity

20 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: ezh2 has been classified as Green List (High Evidence).

20 Oct 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: EZH2 was added gene: EZH2 was added to TEST mode of inheritance validation panel. Sources: Literature Mode of inheritance for gene: EZH2 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Phenotypes for gene: EZH2 were set to Across panel tests - imprinting different