DARS

aspartyl-tRNA synthetase
OMIM: 603084
PanelMode of inheritanceDetails
8 panels
R-numbers: R60
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
leg spasticity, Brain stem and spinal cord Hypomyelination, Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281
R-numbers: R62
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281
R-numbers: R61
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
leg spasticity, Brain stem and spinal cord Hypomyelination, Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY. 615281
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY.
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY.
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
Hypomyelination with brainstem and spinal cord involvement and leg spasticity
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypomyelination with brainstem and spinal cord involvement and leg spasticity