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Cytopenias and congenital anaemias

Gene: EZH2

Red List (low evidence)

EZH2 (enhancer of zeste 2 polycomb repressive complex 2 subunit)
EnsemblGeneIds (GRCh38): ENSG00000106462
EnsemblGeneIds (GRCh37): ENSG00000106462
OMIM: 601573, Gene2Phenotype
EZH2 is in 9 panels

2 reviews

Helen Brittain (Genomics England Curator)

Red List (low evidence)

Germline mutations cause Weaver syndrome, an overgrowth disorder without a significant haematological presentation therefore not appropriate for this panel. Gene is in mapped area related to myeloid disorders. Not appropriate for inclusion.
Created: 9 Mar 2017, 4:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Weaver syndrome 277590

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
Unknown

Phenotypes
Myelodysplastic syndrome (MDS), Paediatric

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Myelodysplastic syndrome (MDS), Paediatric
OMIM
601573
Clinvar variants
Variants in EZH2
Penetrance
Complete
Panels with this gene

History Filter Activity

11 Mar 2017, Gel status: 1

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

9 Mar 2017, Gel status: 1

Set Mode of Inheritance, Added New Source

Sarah Leigh (Genomics England Curator)

EZH2 was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Red Model of inheritance for gene EZH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

17 Feb 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

EZH2 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

EZH2 was created by LouiseD