KARS

lysyl-tRNA synthetase
OMIM: 601421
PanelMode of inheritanceDetails
7 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DEAFNESS, AUTOSOMAL RECESSIVE 89, OMIM:613916, KARS1-related leukoencephalopathy with or without deafness, OMIM:619147
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 4.134
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Global developmental delay, Intellectual disability, Seizures, Charcot-Marie-Tooth disease, recessive intermediate, B - 613641, Deafness, autosomal recessive 89 - 613916
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Global developmental delay, Intellectual disability, Seizures, ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641, Deafness, autosomal recessive 89, 613916
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 4.78
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Deafness, autosomal recessive 89, 613916, Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Charcot-Marie-Tooth disease, recessive intermediate, B (Lysyl-tRNA synthetase mutations) (Mitochondrial respiratory chain disorders (caused by nuclear variants only)), Charcot-Marie-Tooth disease, recessive intermediate, B, 613641
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.114
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Charcot-Marie-Tooth disease, recessive intermediate, B, 613641, Deafness, autosomal recessive 89, 613916
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.23
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease, recessive intermediate, B, 613641, Deafness, autosomal recessive 89, 613916
R-numbers: R63
Signed-off version 3.69
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Deafness, autosomal recessive 89 613916, ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641