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Fetal anomalies

Gene: EIF4A2

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

2 reviews

Arina Puzriakova (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: 10 Mar 2026, 12:27 p.m. | Last Modified: 10 Mar 2026, 12:27 p.m.
Panel Version: 6.149
This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.150

Elizabeth Scotchman (North Thames Genomic Laboratory Hub)

Green List (high evidence)

Green on UK panels: DDG2P, Early onset or syndromic epilepsy and Intellectual disability. PMID 36528028 - 8 patients with nonspecific findings on brain imaging, including thin or short corpus callosum, decreased cerebral volume, enlarged ventricles, cerebellar hypoplasia, small pons, and gyral abnormalities. PMID 41186122 - patient A brain MRI was normal. Patient B possible ventriculomegaly on prenatal ultrasound not further vi-sualized on subsequent fetal MRI. A brain MRI, whichwas performed at 11 months old, revealed absence of the rightcochlear nerve and nonspecific white matter changes, includ-ing patchy areas of white matter T2 flair hyperintensities bilat-erally and prominence of lateral ventricles, possibly related tovolume loss.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures, OMIM:620455

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures, OMIM:620455
OMIM
601102
Clinvar variants
Variants in EIF4A2
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures, OMIM:620455 for gene: EIF4A2

9 Mar 2026, Gel status: 3

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: EIF4A2 was added gene: EIF4A2 was added to Fetal anomalies. Sources: Expert Review Green Mode of inheritance for gene: EIF4A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal