DARS2

aspartyl-tRNA synthetase 2, mitochondrial
OMIM: 610956
PanelMode of inheritanceDetails
11 panels
R-numbers: R62
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
R-numbers: R58
Signed-off version 5.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION 611105
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105
R-numbers: R54
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105
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 5.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105, 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:
  • - Childhood onset leukodystrophy
Signed-off version 6.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
R-numbers: R63
Signed-off version 3.105
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105