1. Genes and Genomic Entities
  2. AIMP2

AIMP2

aminoacyl tRNA synthetase complex interacting multifunctional protein 2
OMIM: 600859, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber AIMP2 in Early onset or syndromic epilepsy


Level 2: Neurology
Version 8.125
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Amber
    • Literature
    Phenotypes
    • Leukodystrophy, hypomyelinating, 17, OMIM:618006
    • eukodystrophy, hypomyelinating, 17, MONDO:0054817
    Tags
    • Q1_26_promote_green
    Amber AIMP2 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
    • Radboud University Medical Center, Nijmegen
    • Literature
    Phenotypes
    • Leukodystrophy, hypomyelinating, 17,OMIM:618006
    • leukodystrophy, hypomyelinating, 17, MONDO:0054817
    • neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis
    Tags
    • Q1_26_promote_green