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Intellectual disability syndromic and non-syndromic

Gene: EZH1

Green List (high evidence)

EZH1 (enhancer of zeste 1 polycomb repressive complex 2 subunit)
EnsemblGeneIds (GRCh38): ENSG00000108799
EnsemblGeneIds (GRCh37): ENSG00000108799
OMIM: 601674, Gene2Phenotype
EZH1 is in 2 panels

1 review

Dean Phelan (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 37433783
Variants were identified 19 individuals from 14 unrelated families, all sharing a clinical phenotype of a neurodevelopmental disorder manifested early in life as global motor, speech and cognitive delay leading to intellectual disability, usually non-progressive and co-occurring with dysmorphic facial features.

Functional studies have shown that some missense EZH1 variants lead to GOF with increased methyltransferase activity and recessive variants impair EZH1 expression causing loss of function effects.
Created: 3 Aug 2023, 2:55 a.m. | Last Modified: 3 Aug 2023, 2:55 a.m.
Panel Version: 0.5316

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder (MONDO:0700092), EZH1-related

Publications

Mode of pathogenicity
Other

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder (MONDO:0700092), EZH1-related
OMIM
601674
Clinvar variants
Variants in EZH1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ezh1 has been classified as Green List (High Evidence).

3 Aug 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EZH1 were changed from to Neurodevelopmental disorder (MONDO:0700092), EZH1-related

3 Aug 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: EZH1 were set to

3 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ezh1 has been classified as Green List (High Evidence).

3 Aug 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Dean Phelan (Victorian Clinical Genetics Services)

gene: EZH1 was added gene: EZH1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: EZH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal