OnlineIMD
Mitochondrial and cytoplasmic glycyl-tRNA synthetase deficiency
Type
Disease
External link(s)
IEMbase
Gene
GARS1
/ glycyl-tRNA synthetase 1
7p14.3
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Glycyl-tRNA synthetase
Disease group(s)
16.4.2 Disorders of non-mitochondrial aminoacyl-tRNA synthetases
Child entries
Infantile spinal muscular atrophy, James type
Charcot-Marie-Tooth disease type 2D
Distal hereditary motor neuropathy type 5A