1. Genes and Genomic Entities
  2. EIF3B

EIF3B

eukaryotic translation initiation factor 3 subunit B
OMIM: 603917, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber EIF3B in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 7.10
Latest signed off version: v7.0 (6 May 2026)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Single kidney
  • Bilateral cleft lip and palate
  • Tetralogy of Fallot
  • Asplenia
Tags
  • gene-checked
Green EIF3B in DDG2P


Version 7.1
Latest signed off version: v7.0 (6 May 2026)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • EIF3B-related neurodevelopmental disorder with cardiac anomalies and craniofacial dysmorphism
    Tags
    • gene-checked
    Amber EIF3B in Paediatric disorders - additional genes


    Level 2: Developmental disorders
    Version 8.6
    Latest signed off version: v8.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • syndromic disease, MONDO:0002254
    Tags
    • Q1_26_promote_green
    • gene-checked