AIMP1

aminoacyl tRNA synthetase complex interacting multifunctional protein 1
OMIM: 603605
PanelMode of inheritanceDetails
5 panels
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating 3 260600
R-numbers: R60
Signed-off version 1.27
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 3, autosomomal recessive, 260600
R-numbers: R61
Signed-off version 2.18
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 3, 260600
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 3, 260600, LEUKODYSTROPHY, HYPOMYELINATING, 3
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 3