GARS

glycyl-tRNA synthetase
OMIM: 600287
PanelMode of inheritanceDetails
4 panels
R-numbers: R78
Signed-off version 4.0
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:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 5.0
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:
  • - Childhood onset leukodystrophy
Signed-off version 6.0
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 3.105
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neuropathy, distal hereditary motor, type VA, 600794, Charcot-Marie-Tooth disease, type 2D, 601472