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 6.140
Latest signed off version: v6.0 (30 Apr 2025)

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
Green EIF3B in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

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
    Amber EIF3B in Paediatric disorders - additional genes


    Level 2: Developmental disorders
    Version 7.31
    Latest signed off version: v7.0 (30 Apr 2025)

    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