PARS2

prolyl-tRNA synthetase 2, mitochondrial
OMIM: 612036
PanelMode of inheritanceDetails
4 panels
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 75, 618437
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Epileptic encephalopathy, early infantile, 75, 618437Alpers syndrome., Epileptic encephalopathy, early infantile, 75, 618437, Alpers syndrome
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Alpers syndrome, Epileptic encephalopathy, early infantile, 75, 618437
R-numbers: R63
Signed-off version 1.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Infantile-onset encephalopathy, Alpers syndrome, Infantile-onset neurodegenerative disorder, Epileptic encephalopathy, early infantile, 75, 61843