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  3. AIMP2
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Leukodystrophy - paediatric

Gene: AIMP2

Red List (low evidence)
AIMP2 (aminoacyl tRNA synthetase complex interacting multifunctional protein 2)
EnsemblGeneIds (GRCh38): ENSG00000106305
EnsemblGeneIds (GRCh37): ENSG00000106305
OMIM: 600859, Gene2Phenotype
AIMP2 is in 2 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Two apparently unrelated consanguineous families with the same truncating variant. The variant lies in a common homozygous region of 940 kb on chromosome 7 and is likely to have been inherited from a common ancestor. No functional analyses conducted.
Sources: Literature
Created: 17 Jan 2020, 10:14 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy, hypomyelinating, 17 618006

Publications

Created: 17 Jan 2020, 10:14 a.m.

Panel version: 0.3

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Two apparently unrelated consanguineous families, however same homozygous variant identified in both. Affected individuals had early-onset multifocal seizures, spasticity, poor overall growth, and microcephaly (up to -10 SD). Brain imaging showed multiple abnormalities, including cerebral and cerebellar atrophy, thin corpus callosum, abnormal signals in the basal ganglia, and features suggesting hypo- or demyelination
Sources: Expert list
Created: 5 Jan 2020, 5:16 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy, hypomyelinating, 17 618006

Publications

Created: 5 Jan 2020, 5:16 a.m.

Panel version: Imported from Leukodystrophy panel version 0.23

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Red
  • Expert list
Phenotypes
  • Leukodystrophy, hypomyelinating, 17 618006
OMIM
600859
Clinvar variants
Variants in AIMP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jan 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: AIMP2 was added gene: AIMP2 was added to Leukodystrophy - paediatric_RMH. Sources: Literature Mode of inheritance for gene: AIMP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AIMP2 were set to 29215095 Phenotypes for gene: AIMP2 were set to Leukodystrophy, hypomyelinating, 17 618006 Review for gene: AIMP2 was set to RED