1. Panels
  2. Fetal anomalies
  3. EIF3A
Genes in panel
Prev Next

Fetal anomalies

Gene: EIF3A

Amber List (moderate evidence)
EIF3A (eukaryotic translation initiation factor 3 subunit A)
EnsemblGeneIds (GRCh38): ENSG00000107581
EnsemblGeneIds (GRCh37): ENSG00000107581
OMIM: 602039, Gene2Phenotype
EIF3A is in 3 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Soo-Mi Park (CUHNFT)

I don't know

Not a Morbid gene. G2P gene with moderate confidence. On R27. PMID: 41033306 reports 4 individuals from unrelated families with 4x LoF variants, including one case of 2.6kb del, 3 de novo and one inherited from an unaffected mother. All had congenital heart disease (TOF, VSD, ASD, PFO, right-sided aortic arch, and a vascular ring. Speech delay/DD/ID reported in all with craniofacial dysmorphism. One reported with seizures and another with bilateral coloboma. Zebrafish null model - abnormal heart development with impaired cardiac function, reduced brain size, coloboma, and craniofacial cartilage defects reported. PMID:34179316 previously reported a single case of LVNC with a missense variant in EIF3A where functional studies demonstrated the mutant to affect cardiomyocyte proliferation, differentiation, and apoptosis. No prenatal features yet reported but CHD like TOF can be detected antenatally.
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
syndromic disease, MONDO:0002254; Cardiovascular, craniofacial, and neurodevelopmental disorder

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • syndromic disease, MONDO:0002254
  • Cardiovascular, craniofacial, and neurodevelopmental disorder
OMIM
602039
Clinvar variants
Variants in EIF3A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 2

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

Ida Ertmanska (Genomics England Curator)

gene: EIF3A was added gene: EIF3A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: EIF3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EIF3A were set to 41033306; 34179316 Phenotypes for gene: EIF3A were set to syndromic disease, MONDO:0002254; Cardiovascular, craniofacial, and neurodevelopmental disorder