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Intellectual disability

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

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 26 Sep 2024, 2:57 p.m. | Last Modified: 26 Sep 2024, 2:57 p.m.
Panel Version: 7.41
Comment on list classification: There is sufficient evidence available for the association of both monoallelic and biallelic EZH1 variants to intellectual disability with green rating. Hence, this gene should be promoted to green in the next GMS update.
Created: 21 Jun 2024, 10:43 p.m. | Last Modified: 21 Jun 2024, 10:43 p.m.
Panel Version: 6.34
PMID:37433783 reported 19 individuals from 14 unrelated families with 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. Nine individuals from seven families were identified with monoallelic variants and ten individuals from seven families were identified with biallelic variants.

Functional studies have shown that some missense EZH1 variants lead to gain of function with increased methyltransferase activity and biallelic variants impair EZH1 expression leading to loss of function effects.

This gene has been associated with relevant phenotypes in Gene2Phenotype (both monoallelic and biallelic disorders rated 'moderate' on the DD panel), but not yet in OMIM.
Sources: Literature
Created: 21 Jun 2024, 10:35 p.m. | Last Modified: 21 Jun 2024, 10:41 p.m.
Panel Version: 6.33

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071

Publications

Mode of pathogenicity
Other

Created: 21 Jun 2024, 10:35 p.m.
Last Modified: 21 Jun 2024, 10:41 p.m.
Panel version: 7.41

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
  • intellectual disability, MONDO:0001071
Tags
gene-checked
OMIM
601674
Clinvar variants
Variants in EZH1
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

2 Oct 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: EZH1.

26 Sep 2024, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_24_promote_green was removed from gene: EZH1.

26 Sep 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to EZH1. Source Expert Review Green was added to EZH1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

21 Jun 2024, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: ezh1 has been classified as Amber List (Moderate Evidence).

21 Jun 2024, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

gene: EZH1 was added gene: EZH1 was added to Intellectual disability. Sources: Literature Q2_24_promote_green tags were added to gene: EZH1. Mode of inheritance for gene: EZH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: EZH1 were set to 37433783 Phenotypes for gene: EZH1 were set to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 Mode of pathogenicity for gene: EZH1 was set to Other Review for gene: EZH1 was set to GREEN