EIF5A

eukaryotic translation initiation factor 5A
OMIM: 600187, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green EIF5A in Severe microcephaly


Level 2: Neurology
Version 9.3
Latest signed off version: v9.0 (6 May 2026)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Faundes-Banka syndrome, OMIM:619376
Green EIF5A in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 7.8
Latest signed off version: v7.0 (6 May 2026)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Literature
Phenotypes
  • Faundes-Banka syndrome, OMIM:619376
Red EIF5A in Rare syndromic craniosynostosis or isolated multisuture synostosis


Level 2: Musculoskeletal
Version 6.5
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • craniosynostosis, MONDO:0015469
Green EIF5A 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
    • EIF5A-related craniofacial-neurodevelopmental disorder
    Green EIF5A in Intellectual disability


    Level 2: Developmental disorders
    Version 10.17
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Faundes-Banka syndrome, OMIM:619376