1. Genes and Genomic Entities
  2. EEF1B2

EEF1B2

eukaryotic translation elongation factor 1 beta 2
OMIM: 600655, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red EEF1B2 in DDG2P


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

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • AUTOSOMAL RECESSIVE MENTAL RETARDATION
    Amber EEF1B2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • AUTOSOMAL RECESSIVE MENTAL RETARDATION
    Tags
    • deletions
    • watchlist