Genomics England
GMS Panels
Panels
Genes and Entities

PARS2

prolyl-tRNA synthetase 2, mitochondrial
OMIM: 612036
PanelMode of inheritanceDetails
4 panels
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 75, 618437
Green
in Likely inborn error of metabolism
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 7.0
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
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Alpers syndrome, Epileptic encephalopathy, early infantile, 75, 618437
Green
in Possible mitochondrial disorder - nuclear genes
R-numbers: R63
Signed-off version 3.105
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Infantile-onset encephalopathy, Alpers syndrome, Infantile-onset neurodegenerative disorder, Epileptic encephalopathy, early infantile, 75, 61843