Genetic Epilepsy
Gene: AIMP1

AIMP1 (aminoacyl tRNA synthetase complex interacting multifunctional protein 1)
EnsemblGeneIds (GRCh38): ENSG00000164022
EnsemblGeneIds (GRCh37): ENSG00000164022
OMIM: 603605, Gene2Phenotype
AIMP1 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Autosomal recessive hypomyelinating leukodystrophy-3 (HLD3) is a severe neurologic disorder characterized by early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system. Abnormal nerve conduction demonstrated. More than 10 families reported.

Seizures are a feature.
Created: 13 Mar 2021, 2:36 a.m. | Last Modified: 13 Mar 2021, 2:36 a.m.

Panel Version: 0.1032

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy, hypomyelinating, 3, MIM# 260600

Publications

Created: 13 Mar 2021, 2:36 a.m.
Last Modified: 13 Mar 2021, 2:36 a.m.
Panel version: 0.1032

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Epilepsy Flagship

Phenotypes

Leukodystrophy, hypomyelinating, 3, MIM# 260600

OMIM

603605

Clinvar variants

Variants in AIMP1

Penetrance

None

Publications

Panels with this gene