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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

2 reviews

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
  • Single kidney
  • Bilateral cleft lip and palate
  • Tetralogy of Fallot
  • Asplenia
OMIM
603917
Clinvar variants
Variants in EIF3B
Penetrance
None
Panels with this gene

History Filter Activity

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