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Intellectual disability syndromic and non-syndromic

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 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, 6:50 a.m. | Last Modified: 15 Dec 2020, 6:50 a.m.
Panel Version: 0.3278

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Weaver syndrome MIM#277590

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Weaver syndrome MIM#277590
OMIM
601573
Clinvar variants
Variants in EZH2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

15 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EZH2 were changed from to Weaver syndrome MIM#277590

15 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: EZH2 were set to

15 Dec 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: EZH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EZH2 was added gene: EZH2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: EZH2 was set to Unknown