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DDG2P

Gene: EIF4A2

Green List (high evidence)
EIF4A2 (eukaryotic translation initiation factor 4A2)
EnsemblGeneIds (GRCh38): ENSG00000156976
EnsemblGeneIds (GRCh37): ENSG00000156976
OMIM: 601102, Gene2Phenotype
EIF4A2 is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for EIF4A2-related neurodevelopmental disorder with hypotonia and epilepsy are moderate, monoallelic_autosomal and undetermined (PMID:36528028). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03471. The DDG2P confidence category, allelic requirement and molecular mechanism for EIF4A2-related neurodevelopmental disorder are limited, biallelic_autosomal and undetermined (PMID:36528028). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03472.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease Autosomal dominant EIF4A2-related neurodevelopmental disorder with hypotonia and epilepsy is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 36528028). The DDG2P confidence category for the disease Autosomal recessive EIF4A2-related neurodevelopmental disorder is limited. The allelic requirement and mutation consequence are biallelic_autosomal and decreased gene product level (PMID: 36528028).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.
Panel Version: 4.10

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
MONDO:0957541; EIF4A2-related neurodevelopmental disorder with hypotonia and epilepsy; EIF4A2-related neurodevelopmental disorder; Autosomal dominant EIF4A2-related neurodevelopmental disorder with hypotonia and epilepsy; OMIM:620455.0; Autosomal recessive EIF4A2-related neurodevelopmental disorder

Publications

Mode of pathogenicity
Other

Created: 26 Sep 2024, 8:30 p.m.
Last Modified: 26 Sep 2024, 8:30 p.m.
Panel version: 6.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Autosomal recessive EIF4A2-related neurodevelopmental disorder
  • Autosomal dominant EIF4A2-related neurodevelopmental disorder with hypotonia and epilepsy
Tags
de novo
OMIM
601102
Clinvar variants
Variants in EIF4A2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: EIF4A2 was changed from Other to None

13 Feb 2026, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag de novo tag was added to gene: EIF4A2.

26 Sep 2024, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: EIF4A2 was added gene: EIF4A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EIF4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EIF4A2 were set to 36528028 Phenotypes for gene: EIF4A2 were set to Autosomal recessive EIF4A2-related neurodevelopmental disorder; Autosomal dominant EIF4A2-related neurodevelopmental disorder with hypotonia and epilepsy Mode of pathogenicity for gene: EIF4A2 was set to Other