Embryonal tumour of possible germline origin
Gene: EZH2
EZH2 (enhancer of zeste 2 polycomb repressive complex 2 subunit)
EnsemblGeneIds (GRCh38): ENSG00000106462
EnsemblGeneIds (GRCh37): ENSG00000106462
OMIM: 601573, Gene2Phenotype
EZH2 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000106462
EnsemblGeneIds (GRCh37): ENSG00000106462
OMIM: 601573, Gene2Phenotype
EZH2 is in 9 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
EZH2 has been added to the panel for the clinical indication 'R456 Embryonal tumour of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.Created: 26 Jan 2026, 6:10 p.m. | Last Modified: 26 Jan 2026, 6:10 p.m.
Panel Version: 0.7
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #277590) and the OMIM record was last accessed on 30 December 2025.Created: 30 Dec 2025, 11:14 a.m. | Last Modified: 30 Dec 2025, 11:14 a.m.
Panel Version: 0.2
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Weaver syndrome, OMIM:277590; Weaver syndrome, MONDO:0010193
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Weaver syndrome, OMIM:277590
- Weaver syndrome, MONDO:0010193
- OMIM
- 601573
- Clinvar variants
- Variants in EZH2
- Penetrance
- None
- Panels with this gene
History Filter Activity
30 Dec 2025, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)gene: EZH2 was added gene: EZH2 was added to Embryonal tumour of possible germline origin. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: EZH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: EZH2 were set to Weaver syndrome, OMIM:277590; Weaver syndrome, MONDO:0010193