DDG2P
Gene: EZH1

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 DDG2P confidence category for the disease EZH1-related neurodevelopmental disorder is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 37433783). The DDG2P confidence category for the disease EZH1-related neurodevelopmental disorder is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;decreased gene product level (PMID: 38814056;37433783).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.

Panel Version: 4.10

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
EZH1-related neurodevelopmental disorder

Publications

Created: 26 Sep 2024, 8:30 p.m.
Last Modified: 26 Sep 2024, 8:30 p.m.
Panel version: 4.10

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

EZH1-related neurodevelopmental disorder

Tags

gene-checked

OMIM

601674

Clinvar variants

Variants in EZH1

Penetrance

None

Publications

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

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: EZH1 was added gene: EZH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EZH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: EZH1 were set to 37433783; 38814056 Phenotypes for gene: EZH1 were set to EZH1-related neurodevelopmental disorder

DDG2P Gene: EZH1