Overgrowth
Gene: EZH2

EZH2 (enhancer of zeste 2 polycomb repressive complex 2 subunit)
EnsemblGeneIds (GRCh38): ENSG00000106462
EnsemblGeneIds (GRCh37): ENSG00000106462
OMIM: 601573, Gene2Phenotype
EZH2 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association. Weaver syndrome is clinically characterised by tall stature, variable intellect (ranging from normal intellect to severe intellectual disability), characteristic facial appearance, and a range of associated clinical features including advanced bone age, poor coordination, soft doughy skin, camptodactyly of the fingers and/or toes, umbilical hernia, abnormal tone, and hoarse low cry in infancy.
Created: 15 Dec 2020, 6:53 a.m. | Last Modified: 15 Dec 2020, 6:53 a.m.

Panel Version: 0.57

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Weaver syndrome MIM#277590

Publications

Created: 15 Dec 2020, 6:53 a.m.
Last Modified: 15 Dec 2020, 6:53 a.m.
Panel version: 0.57

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Weaver syndrome MIM#277590

OMIM

601573

Clinvar variants

Variants in EZH2

Penetrance

None

Publications

Panels with this gene