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  3. EIF3B
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Fetal anomalies

Gene: EIF3B

Amber List (moderate evidence)
EIF3B (eukaryotic translation initiation factor 3 subunit B)
EnsemblGeneIds (GRCh38): ENSG00000106263
EnsemblGeneIds (GRCh37): ENSG00000106263
OMIM: 603917, Gene2Phenotype
EIF3B is in 3 panels

4 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

Sunayna Best (Leeds Teaching Hospitals NHS Trust)

I don't know

Erkut et al, 2025: report 4 unrelated individuals with de novo or LOF variants in EIF3A. Clinical features: all had structural cardiac anomalies that could be seen on antenatal scans (TOF, TOF + right sided arch, VSD + ASD + PFO, VSD + right sided arch + vascular ring). Other described features couldn't reliably be seen on scans: facial dysmorphism, hearing loss, coloboma + developmental delay. 1 individual with symphalangism of the thumb. Zebrafish modelling: knockouts resulted in developmental abnormalities, including thin heart tubes, lack of craniofacial cartilage, and embryonic lethality. Check if team is happy with antenatal phenotype that is likely to be exclusively cardiac (wouldn't usually get R21).
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

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. 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, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16
Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.16

Esther Kinning (NHS Greater Glasgow and Clyde)

I don't know

VUS seen in an R14 case presenting with Tetralogy of Fallot, bilateral cleft lip and palate, single kidney and asplenia. Not yet published, nothing else in literature.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Tetralogy of Fallot, bilateral cleft lip and palate, single kidney, asplenia

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Asplenia
  • Single kidney
  • Tetralogy of Fallot
  • Bilateral cleft lip and palate
  • syndromic disease, MONDO:0002254
  • Cardiovascular, craniofacial, and neurodevelopmental disorder
Tags
gene-checked
OMIM
603917
Clinvar variants
Variants in EIF3B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 2

Set Phenotypes, Set publications

Ida Ertmanska (Genomics England Curator)

Added phenotypes syndromic disease, MONDO:0002254; Cardiovascular, craniofacial, and neurodevelopmental disorder for gene: EIF3B Publications for gene: EIF3B were updated from to 41033306

19 Mar 2026, Gel status: 2

Added Tag

Ida Ertmanska (Genomics England Curator)

Tag gene-checked tag was added to gene: EIF3B.

20 Feb 2025, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: EIF3B was added gene: EIF3B was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: EIF3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EIF3B were set to Single kidney; Bilateral cleft lip and palate; Tetralogy of Fallot; Asplenia