LARS2

leucyl-tRNA synthetase 2, mitochondrial
OMIM: 604544
PanelMode of inheritanceDetails
4 panels
Green
in Hearing loss
R-numbers: R67
Signed-off version 2.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#615300: Perrault syndrome 4
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
Perrault syndrome, Perrault syndrome 4, 615300, Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
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), Perrault syndrome 4, 615300, Perrault syndrome
R-numbers: R63
Signed-off version 1.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Hydrops, lactic acidosis, and sideroblastic anemia, 617021, Perrault syndrome 4, 615300