LARS2

leucyl-tRNA synthetase 2, mitochondrial
OMIM: 604544
PanelMode of inheritanceDetails
6 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Perrault syndrome 4, OMIM:615300
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
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:
  • - White matter disorders - childhood onset
Signed-off version 3.1
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
R-numbers: R67
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Perrault syndrome 4, OMIM:615300
R-numbers: R63
Signed-off version 2.2
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
R-numbers: R62
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Perrault syndrome 4, OMIM:615300, Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021, Leukodystrophy