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 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.193
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • 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
    • Epileptic Encephalopathy
    • Infantile Spasms
    • Leukodystrophy, hypomyelinating, 17, 618006
    • neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis
    Tags
    • watchlist
    Amber AIMP2 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.531
    Latest signed off version: v5.0 (22 Mar 2023)

    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, 618006
    • neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis