Genomics England
GMS Panels
Panels
Genes and Entities

DARS2

aspartyl-tRNA synthetase 2, mitochondrial
OMIM: 610956
PanelMode of inheritanceDetails
10 panels
Green
in Adult onset leukodystrophy
R-numbers: R62
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
Green
in Adult onset neurodegenerative disorder
R-numbers: R58
Signed-off version 4.34
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105
Green
in Ataxia and cerebellar anomalies - narrow panel
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 4.0
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 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION 611105
Green
in Hereditary ataxia with onset in adulthood
R-numbers: R54
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
Green
in Intellectual disability - microarray and sequencing
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105, LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION
Green
in Likely inborn error of metabolism - targeted testing not possible
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 4.0
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))
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.0
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
Green
in Possible mitochondrial disorder - nuclear genes
R-numbers: R63
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
Green
in White matter disorders and cerebral calcification - narrow panel
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy, Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL), Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105