LARS2

leucyl-tRNA synthetase 2, mitochondrial
OMIM: 604544
PanelMode of inheritanceDetails
9 panels
R-numbers: R62
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Perrault syndrome 4, OMIM:615300, Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021, Leukodystrophy
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Perrault syndrome 4, OMIM:615300
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PERRAULT SYNDROME
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021
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
Perrault syndrome 4, OMIM:615300, Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021, Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only), Multiple respiratory chain complex deficiencies (disorders of protein synthesis
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Perrault syndrome 4, OMIM:615300, Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021, Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only), Multiple respiratory chain complex deficiencies (disorders of protein synthesis
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.39
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Perrault syndrome 4, OMIM:615300
R-numbers: R63
Signed-off version 3.105
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Perrault syndrome 4, OMIM:615300, Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021, Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only), Multiple respiratory chain complex deficiencies (disorders of protein synthesis
Green
in Rare anaemia
R-numbers: R92
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021