MARS2

methionyl-tRNA synthetase 2, mitochondrial
OMIM: 609728
PanelMode of inheritanceDetails
6 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic ataxia 3, autosomal recessive
R-numbers: R57
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic ataxia 3, autosomal recessive, 611390
R-numbers: R54
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic ataxia 3, autosomal recessive, Autosomal recessive spastic ataxia 3, 611390
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic Ataxia 13, autosomal recessive, 611390, Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)), ?Combined oxidative phosphorylation deficiency 25
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Spastic Ataxia 13, autosomal recessive, 611390, ?Combined oxidative phosphorylation deficiency 25
R-numbers: R63
Signed-off version 3.105
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic ataxia 3, autosomal recessive, 611390, ?Combined oxidative phosphorylation deficiency 25, 616430