EIF5A

eukaryotic translation initiation factor 5A
OMIM: 600187, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber EIF5A in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.207
Latest signed off version: v2.2 (2 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual disability
  • microcephaly
  • dysmorphism
Tags
  • Q2_21_rating

Amber EIF5A in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1125
Latest signed off version: v3.2 (13 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Intellectual disability
    • microcephaly
    • dysmorphism
    Tags
    • Q2_21_rating