GARS

glycyl-tRNA synthetase
OMIM: 600287
PanelMode of inheritanceDetails
4 panels
R-numbers: R78
Signed-off version 1.36
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neuropathy, distal hereditary motor, type V, 600794, Charcot Marie Tooth disease, type 2D, 601472
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Charcot-Marie-Tooth disease, type 2D, Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Neuropathy, distal hereditary motor, type VA
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Charcot-Marie-Tooth disease, type 2D, Neuropathy, distal hereditary motor, type VA
R-numbers: R63
Signed-off version 1.17
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neuropathy, distal hereditary motor, type VA, 600794, Charcot-Marie-Tooth disease, type 2D, 601472