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  3. AIMP2
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Fetal anomalies

Gene: AIMP2

Amber List (moderate evidence)
AIMP2 (aminoacyl tRNA synthetase complex interacting multifunctional protein 2)
EnsemblGeneIds (GRCh38): ENSG00000106305
EnsemblGeneIds (GRCh37): ENSG00000106305
OMIM: 600859, Gene2Phenotype
AIMP2 is in 3 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.148

Stephanie Allen (Birmingham Women's NHS Foundation Trust)

I don't know

Not currently green in any panels; 40721351 - 2 fetuses, both homozygous for P variant AIMP2 (one also Homozygous for DNAH14 pathogenic variant). Scan findings Microcephaly, clenched hands, spasticity, FGR; Microcephaly, FGR, abnormal fetal movement, feet abnormalities. Amber in ID and epilepsy.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy, hypomyelinating, 17, OMIM:618006

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

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

History Filter Activity

10 Mar 2026, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Leukodystrophy, hypomyelinating, 17, OMIM:618006 for gene: AIMP2

9 Mar 2026, Gel status: 2

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: AIMP2 was added gene: AIMP2 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: AIMP2 was set to BIALLELIC, autosomal or pseudoautosomal